| geneid | 58 |
|---|---|
| ensemblid | ENSG00000143632.15 |
| hgncid | 129 |
| symbol | ACTA1 |
| name | actin alpha 1, skeletal muscle |
| refseq_nuc | NM_001100.4 |
| refseq_prot | NP_001091.1 |
| ensembl_nuc | ENST00000366684.7 |
| ensembl_prot | ENSP00000355645.3 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 229431245 |
| end | 229434094 |
| strand | - |
| ver | v1.2 |
| region | chr1:229431245-229434094 |
| region5000 | chr1:229426245-229439094 |
| regionname0 | ACTA1_chr1_229431245_229434094 |
| regionname5000 | ACTA1_chr1_229426245_229439094 |
| 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 | 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 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:229432484
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(446): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(26): Show | 449 | 450 | 0.9978 | 0 | ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 3/6 | c.455-53A>C |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTA1 | 1/1 | a0001 | 377 | 450 | 96 | 86 | 206 | 18 | 42 | subcellular location copy fasta | chr1 | 229426245 | 229439094 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTA1 | 1/1 | c0001 | 1134 | 436 | 87 | 84 | 204 | 18 | 41 | copy fasta | chr1 | 229426245 | 229439094 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTA1 | 1/0 | t0002 | 358 | 183 | 14 | 30 | 125 | 4 | 9 | copy fasta | chr1 | 229426245 | 229439094 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTA1 | 0/0 | g0001 | 153 | 7 | 28 | 105 | 4 | 9 | chr1 | 229426245 | 229439094 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTA1 | 1/1 | a0001c0001 | 436 | 87 | 84 | 204 | 18 | 41 | 1134 | copy fasta | chr1 | 229426245 | 229439094 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTA1 | 1/0 | a0001c0001t0002 | 183 | 14 | 30 | 125 | 4 | 9 | 1491 | copy fasta | chr1 | 229426245 | 229439094 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTA1 | 0/0 | a0001c0001t0002g0001 | 153 | 7 | 28 | 105 | 4 | 9 | chr1 | 229426245 | 229439094 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 229434004 | - | 1 | -0.7668 | -0.7565 | -0.7488 | 0.0180 | acceptor | a0001c0001t0002g0001 | HG02074.hp1 | NA19000.hp1 | ACTA1 | chr1 | 229426245 | 229439094 |
| 229432987 | - | 2 | -0.8634 | -0.8631 | -0.8624 | 0.0011 | acceptor | a0001c0001t0002g0001 | HG01175.hp1 HG01175.hp2 HG02630.hp1 HG02683.hp2 |
NA18747.hp1 NA18960.hp1 NA18962.hp2 NA19070.hp1 NA19080.hp2 others(1): Show |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229433127 | - | 2 | 0.9914 | 0.9913 | 0.9911 | 0.0003 | donor | a0001c0001t0002g0001 | HG00408.hp1 HG00621.hp2 HG00673.hp1 HG01192.hp1 HG01255.hp1 others(32): Show |
HG02040.hp1 HG03942.hp2 NA18966.hp2 |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229432556 | - | 3 | -0.9985 | -0.9984 | -0.9985 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00323.hp1 HG00621.hp1 HG00673.hp2 HG01069.hp1 HG01123.hp2 others(25): Show |
HG00280.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 others(118): Show |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229432880 | - | 3 | 0.8233 | 0.8226 | 0.8219 | 0.0013 | donor | a0001c0001t0002g0001 | NA18947.hp1 | NA19006.hp2 | ACTA1 | chr1 | 229426245 | 229439094 |
| 229432270 | - | 4 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0001c0001t0002g0001 | NA18947.hp1 | HG00408.hp1 | ACTA1 | chr1 | 229426245 | 229439094 |
| 229432431 | - | 4 | 0.9981 | 0.9981 | 0.9981 | 0.0000 | donor | a0001c0001t0002g0001 | HG00323.hp1 HG01069.hp1 HG02135.hp2 NA18947.hp1 NA18949.hp1 others(3): Show |
HG00280.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 others(140): Show |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229431994 | - | 5 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00408.hp1 HG02135.hp2 NA18747.hp1 NA18946.hp2 NA18947.hp1 others(8): Show |
HG00280.hp1 HG00323.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 others(135): Show |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229432185 | - | 5 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0001t0002g0001 | HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp1 others(148): Show |
HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp1 others(148): Show |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229431721 | - | 6 | -0.9993 | -0.9992 | -0.9993 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG02135.hp2 NA18948.hp2 NA18949.hp1 |
HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp1 others(136): Show |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229431902 | - | 6 | 0.9983 | 0.9983 | 0.9983 | 0.0000 | donor | a0001c0001t0002g0001 | HG00408.hp1 HG01167.hp2 HG01169.hp1 HG02135.hp2 NA18747.hp1 others(9): Show |
HG00280.hp1 HG00323.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 others(134): Show |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229431642 | - | 7 | 0.9913 | 0.9912 | 0.9911 | 0.0002 | donor | a0001c0001t0002g0001 | HG02135.hp2 NA18948.hp2 |
HG00408.hp1 | ACTA1 | chr1 | 229426245 | 229439094 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 229432484:splice 229432484:variant goto | c.455-53A>C | 676564 | Benign | ACTA1:58 | SO:0001627 intron_variant |
MONDO:MONDO:0008070 MedGen:C3711389 OMIM:161800 Orphanet:98904|MedGen:C3661900|MONDO:MONDO:0009711 MedGen:C0546264 others(4): Show |
- | 1 | 6 | 7 | 29 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(24): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(444): Show |
MODIFIER | chr1 | T | G | TogoVar |
| 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 |
|---|