| geneid | 54988 |
|---|---|
| ensemblid | ENSG00000183549.10 |
| hgncid | 26060 |
| symbol | ACSM5 |
| name | acyl-CoA synthetase medium chain family member 5 |
| refseq_nuc | NM_017888.3 |
| refseq_prot | NP_060358.2 |
| ensembl_nuc | ENST00000331849.8 |
| ensembl_prot | ENSP00000327916.4 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 20409534 |
| end | 20441336 |
| strand | + |
| ver | v1.2 |
| region | chr16:20409534-20441336 |
| region5000 | chr16:20404534-20446336 |
| regionname0 | ACSM5_chr16_20409534_20441336 |
| regionname5000 | ACSM5_chr16_20404534_20446336 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:20429731
|
C | G | 0.5023 | missense_variant | MODERATE | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(215): Show |
a0001a0004a0007others(12): Show | a0001c0001a0001c0007a0001c0021others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(187): Show | 218 | 434 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 8/14 | c.1055C>G | p.Pro352Arg | 1202/2796 | 1055/1740 | 352/579 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:20429762
|
T | C | 0.6498 | synonymous_variant | LOW | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(279): Show |
a0001a0003a0004others(18): Show | a0001c0001a0001c0007a0001c0021others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(244): Show | 282 | 434 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 8/14 | c.1086T>C | p.Thr362Thr | 1233/2796 | 1086/1740 | 362/579 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:20417023
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(322): Show |
a0000a0001a0002others(19): Show | a0000c0031a0001c0001a0001c0007others(27): Show | a0000c0031t0017a0001c0001t0001a0001c0001t0002others(43): Show | a0000c0031t0017g0352a0001c0001t0001g0002a0001c0001t0001g0006others(270): Show | 325 | 434 | 0.7489 | 1 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 2/13 | c.205-1020dupA | INFO_REALIGN_3_PRIME | |||||
|
chr16:20421615
|
CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(167): Show |
a0000a0001a0002others(11): Show | a0000c0031a0001c0001a0001c0007others(13): Show | a0000c0031t0017a0001c0001t0001a0001c0001t0002others(21): Show | a0000c0031t0017g0352a0001c0001t0001g0006a0001c0001t0001g0010others(140): Show | 170 | 434 | 0.3917 | -8 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 5/13 | c.767+249_767+256delTATATATA | INFO_REALIGN_3_PRIME | |||||
|
chr16:20425371
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(232): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0036others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(200): Show | 235 | 434 | 0.5415 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/13 | c.921+1302T>A | ||||||
|
chr16:20425592
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(233): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(201): Show | 236 | 434 | 0.5438 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/13 | c.921+1523T>C | ||||||
|
chr16:20425741
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(217): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0007a0001c0036others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(187): Show | 220 | 434 | 0.5069 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/13 | c.921+1672C>G | ||||||
|
chr16:20425851
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(237): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0007a0001c0021others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(205): Show | 240 | 434 | 0.5530 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/13 | c.921+1782T>G | ||||||
|
chr16:20426088
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(76): Show | 90 | 434 | 0.2074 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/13 | c.922-1700A>C | ||||||
|
chr16:20426194
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(126): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0037a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(20): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(109): Show | 129 | 434 | 0.2972 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/13 | c.922-1594A>G | ||||||
|
chr16:20427178
|
G | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(149): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0021a0001c0036others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0013others(131): Show | 152 | 434 | 0.3502 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/13 | c.922-610G>C | ||||||
|
chr16:20427403
|
C | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(262): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(229): Show | 265 | 434 | 0.6106 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/13 | c.922-385C>A | ||||||
|
chr16:20427410
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(267): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0021others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(233): Show | 270 | 434 | 0.6221 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/13 | c.922-378G>A | ||||||
|
chr16:20428227
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(116): Show |
a0001a0004a0009others(7): Show | a0001c0001a0004c0004a0009c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(100): Show | 119 | 434 | 0.2742 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 7/13 | c.1001+360C>T | ||||||
|
chr16:20428396
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(215): Show |
a0001a0004a0007others(12): Show | a0001c0001a0001c0007a0001c0021others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(187): Show | 218 | 434 | 0.5023 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 7/13 | c.1001+529G>A | ||||||
|
chr16:20428511
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(278): Show |
a0001a0003a0004others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(243): Show | 281 | 434 | 0.6475 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 7/13 | c.1001+644T>C | ||||||
|
chr16:20428968
|
C | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(278): Show |
a0001a0003a0004others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(243): Show | 281 | 434 | 0.6475 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 7/13 | c.1002-710C>A | ||||||
|
chr16:20429375
|
T | TATCA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(278): Show |
a0001a0003a0004others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(243): Show | 281 | 434 | 0.6475 | 4 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 7/13 | c.1002-302_1002-299dupATCA | INFO_REALIGN_3_PRIME | |||||
|
chr16:20429893
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(215): Show |
a0001a0004a0007others(12): Show | a0001c0001a0001c0007a0001c0021others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(187): Show | 218 | 434 | 0.5023 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 8/13 | c.1125+92A>G | ||||||
|
chr16:20430200
|
TACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00597.hp1 others(115): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0007a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(99): Show | 118 | 434 | 0.2719 | -4 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 8/13 | c.1125+432_1125+435delACAC | INFO_REALIGN_3_PRIME | |||||
|
chr16:20430551
|
G | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(116): Show |
a0001a0004a0009others(7): Show | a0001c0001a0004c0004a0009c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(100): Show | 119 | 434 | 0.2742 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 8/13 | c.1126-442G>C | ||||||
|
chr16:20431561
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(277): Show |
a0001a0003a0004others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(242): Show | 280 | 434 | 0.6452 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1308+240T>C | ||||||
|
chr16:20431951
|
A | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(277): Show |
a0001a0003a0004others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(242): Show | 280 | 434 | 0.6452 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1308+630A>T | ||||||
|
chr16:20431954
|
A | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(283): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0007a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(247): Show | 286 | 434 | 0.6590 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1308+633A>T | ||||||
|
chr16:20432847
|
C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00738.hp2 others(33): Show |
a0001a0004a0008others(4): Show | a0001c0001a0001c0007a0001c0037others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0007others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0054a0001c0001t0001g0092others(32): Show | 36 | 434 | 0.0830 | 10 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1308+1543_1308+1552dupTTTTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr16:20433682
|
AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(277): Show |
a0001a0003a0004others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(242): Show | 280 | 434 | 0.6452 | -1 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1308+2370delT | INFO_REALIGN_3_PRIME | |||||
|
chr16:20433840
|
ATT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(107): Show |
a0001a0004a0010others(6): Show | a0001c0001a0004c0004a0010c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(91): Show | 110 | 434 | 0.2535 | -2 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1308+2535_1308+2536delTT | INFO_REALIGN_3_PRIME | |||||
|
chr16:20435055
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(187): Show |
a0001a0004a0007others(11): Show | a0001c0001a0001c0021a0001c0036others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(160): Show | 190 | 434 | 0.4378 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-1997C>T | ||||||
|
chr16:20435517
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(279): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0007a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(244): Show | 282 | 434 | 0.6498 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-1535C>T | ||||||
|
chr16:20435638
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(254): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0021a0001c0036others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(220): Show | 257 | 434 | 0.5922 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-1414G>A | ||||||
|
chr16:20435714
|
A | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(254): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0021a0001c0036others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(220): Show | 257 | 434 | 0.5922 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-1338A>C | ||||||
|
chr16:20435907
|
A | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(254): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0021a0001c0036others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(220): Show | 257 | 434 | 0.5922 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-1145A>T | ||||||
|
chr16:20435936
|
TTTCC | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(114): Show |
a0001a0004a0009others(7): Show | a0001c0001a0004c0004a0009c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(98): Show | 117 | 434 | 0.2696 | -4 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-1100_1309-1097delCTTC | INFO_REALIGN_3_PRIME | |||||
|
chr16:20436010
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(254): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0021a0001c0036others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(220): Show | 257 | 434 | 0.5922 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-1042T>C | ||||||
|
chr16:20436031
|
CTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(247): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0021a0001c0036others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(215): Show | 250 | 434 | 0.5760 | -4 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-1019_1309-1016delTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr16:20436061
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(254): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0021a0001c0036others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(220): Show | 257 | 434 | 0.5922 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-991T>C | ||||||
|
chr16:20436094
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(254): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0021a0001c0036others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(220): Show | 257 | 434 | 0.5922 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-958C>T | ||||||
|
chr16:20436100
|
C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(187): Show |
a0001a0004a0007others(11): Show | a0001c0001a0001c0021a0001c0036others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(160): Show | 190 | 434 | 0.4378 | 14 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-941_1309-940insCTTTTTCTTTCTTT | INFO_REALIGN_3_PRIME | |||||
|
chr16:20436112
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(187): Show |
a0001a0004a0007others(11): Show | a0001c0001a0001c0021a0001c0036others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(160): Show | 190 | 434 | 0.4378 | 0 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-940T>C | ||||||
|
chr16:20436147
|
T | TTCCC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(254): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0021a0001c0036others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(220): Show | 257 | 434 | 0.5922 | 4 | ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | c.1309-895_1309-892dupCCCT | INFO_REALIGN_3_PRIME |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM5 | 0/1 | a0001 | 579 | 157 | 39 | 13 | 90 | 4 | 10 | subcellular location copy fasta | chr16 | 20404534 | 20446336 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM5 | 0/1 | c0001 | 1740 | 144 | 29 | 12 | 88 | 4 | 10 | copy fasta | chr16 | 20404534 | 20446336 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM5 | 1/0 | t0002 | 1057 | 96 | 6 | 41 | 27 | 10 | 11 | copy fasta | chr16 | 20404534 | 20446336 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM5 | 0/0 | g0147 | 1 | 0 | 1 | 0 | 0 | 0 | chr16 | 20404534 | 20446336 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM5 | 0/1 | a0001c0001 | 144 | 29 | 12 | 88 | 4 | 10 | 1740 | copy fasta | chr16 | 20404534 | 20446336 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM5 | 0/0 | a0001c0001t0002 | 3 | 0 | 2 | 0 | 0 | 1 | 2796 | copy fasta | chr16 | 20404534 | 20446336 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM5 | 0/0 | a0001c0001t0002g0147 | 1 | 0 | 1 | 0 | 0 | 0 | chr16 | 20404534 | 20446336 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 20411470 | + | 2 | 0.9562 | 0.9562 | 0.9562 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20411688 | + | 2 | -0.7403 | -0.7403 | -0.7403 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20418059 | + | 3 | 0.9618 | 0.9618 | 0.9618 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20418269 | + | 3 | -0.9768 | -0.9768 | -0.9768 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20419228 | + | 4 | 0.9358 | 0.9358 | 0.9358 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20419435 | + | 4 | -0.5092 | -0.5092 | -0.5092 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20421258 | + | 5 | 0.9906 | 0.9906 | 0.9906 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20421401 | + | 5 | -0.9911 | -0.9911 | -0.9911 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20423916 | + | 6 | 0.8239 | 0.8239 | 0.8239 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20424069 | + | 6 | -0.9141 | -0.9141 | -0.9141 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20427788 | + | 7 | 0.7785 | 0.7785 | 0.7785 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20427867 | + | 7 | -0.7642 | -0.7642 | -0.7642 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20429678 | + | 8 | 0.9862 | 0.9862 | 0.9862 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20429801 | + | 8 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20430993 | + | 9 | 0.9612 | 0.9612 | 0.9612 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20431073 | + | 9 | -0.8958 | -0.8958 | -0.8958 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20431220 | + | 10 | 0.9959 | 0.9959 | 0.9959 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20431321 | + | 10 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20437052 | + | 11 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20437179 | + | 11 | -0.9892 | -0.9892 | -0.9892 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20437268 | + | 12 | 0.9382 | 0.9382 | 0.9382 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20437367 | + | 12 | -0.9815 | -0.9815 | -0.9815 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20439800 | + | 13 | 0.9952 | 0.9951 | 0.9952 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20439919 | + | 13 | -0.9964 | -0.9964 | -0.9964 | 0.0000 | acceptor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| 20440344 | + | 14 | 0.9588 | 0.9588 | 0.9588 | 0.0000 | donor | a0001c0001t0002g0147 | HG01167.hp1 | HG01167.hp1 | ACSM5 | chr16 | 20404534 | 20446336 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:20435517
|
c.1309-1535C>T |
Protein quantitative trait loci (liver)0 others(6): Show |
a0001a0002a0003a0004a0005others(17): Show | a0001c0001a0001c0007a0001c0021a0001c0036a0001c0037others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(242): Show | HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 others(277): Show |
Genome-wide pQTL analysis of protein expression re others(37): Show |
172 European ancestry individuals, 29 Black indivi others(22): Show |
NR | ACSM5 | rs7498385-T | + | MODIFIER | chr16 | C | T |
|
chr16:20435055
|
c.1309-1997C>T | 3-Indolepropionic acid levels in coronary artery diseaseothers(19): Show | a0001a0004a0007a0008a0009others(9): Show | a0001c0001a0001c0021a0001c0036a0001c0040a0001c0041others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(158): Show | HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 others(185): Show |
Genome-wide association study of metabolites in pa others(88): Show |
1,551 Han Chinese ancestry individuals/ | ACSM5 | rs6497488-T | + | MODIFIER | chr16 | C | T | |
|
chr16:20428396
|
c.1001+529G>A | X-11478 levels0.146 | a0001a0004a0007a0008a0009others(10): Show | a0001c0001a0001c0007a0001c0021a0001c0036a0001c0037others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(185): Show | HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 others(213): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ACSM5 | rs6497484-A | + | MODIFIER | chr16 | G | A | |
|
chr16:20436010
|
c.1309-1042T>C | X-17676 levels0.2 | a0001a0003a0004a0005a0007others(14): Show | a0001c0001a0001c0021a0001c0036a0001c0040a0001c0041others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(218): Show | HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 others(252): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ACSM5 | rs66465511-C | + | MODIFIER | chr16 | T | C |
