| 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 |
|---|
| 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 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 |
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 | -0.7572 | -0.7275 | 0.0393 | acceptor | a0001c0001t0002 | HG02074.hp1 | HG00544.hp2 | ACTA1 | chr1 | 229426245 | 229439094 |
| 229432987 | - | 2 | -0.8647 | -0.8630 | -0.8273 | 0.0374 | acceptor | a0001c0001t0002 | homoSapiens_grch38.hp1 | NA18977.hp1 | ACTA1 | chr1 | 229426245 | 229439094 |
| 229433127 | - | 2 | 0.9914 | 0.9912 | 0.9907 | 0.0008 | donor | a0001c0001t0002 | HG00408.hp1 HG00621.hp2 HG00673.hp1 HG01192.hp1 HG01255.hp1 others(32): Show |
HG00544.hp2 | ACTA1 | chr1 | 229426245 | 229439094 |
| 229432556 | - | 3 | -0.9985 | -0.9984 | -0.9984 | 0.0001 | acceptor | a0001c0001t0002 | NA18941.hp2 NA18944.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 others(5): Show |
HG00544.hp2 homoSapiens_grch38.hp1 |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229432880 | - | 3 | 0.8234 | 0.8225 | 0.7744 | 0.0490 | donor | a0001c0001t0002 | homoSapiens_grch38.hp1 | NA18977.hp1 | ACTA1 | chr1 | 229426245 | 229439094 |
| 229432270 | - | 4 | -0.9975 | -0.9970 | -0.9969 | 0.0006 | acceptor | a0001c0001t0002 | NA19066.hp2 NA19083.hp1 |
NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18955.hp2 NA18962.hp1 others(10): Show |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229432431 | - | 4 | 0.9981 | 0.9981 | 0.9981 | 0.0000 | donor | a0001c0001t0002 | HG00544.hp2 | homoSapiens_grch38.hp1 | ACTA1 | chr1 | 229426245 | 229439094 |
| 229431994 | - | 5 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0001c0001t0002 | HG00408.hp1 HG02135.hp2 NA18747.hp1 NA18946.hp2 NA18947.hp1 others(10): Show |
NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18955.hp2 NA18962.hp1 others(10): Show |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229432185 | - | 5 | 0.9989 | 0.9984 | 0.9984 | 0.0005 | donor | a0001c0001t0002 | NA19066.hp2 NA19083.hp1 |
homoSapiens_grch38.hp1 | ACTA1 | chr1 | 229426245 | 229439094 |
| 229431721 | - | 6 | -0.9993 | -0.9992 | -0.9992 | 0.0001 | acceptor | a0001c0001t0002 | HG02135.hp2 NA18948.hp2 NA18949.hp1 |
NA19066.hp2 NA19083.hp1 |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229431902 | - | 6 | 0.9983 | 0.9983 | 0.9983 | 0.0000 | donor | a0001c0001t0002 | HG00408.hp1 HG01167.hp2 HG01169.hp1 HG02135.hp2 NA18747.hp1 others(10): Show |
NA19066.hp2 NA19067.hp2 NA19083.hp1 |
ACTA1 | chr1 | 229426245 | 229439094 |
| 229431642 | - | 7 | 0.9914 | 0.9912 | 0.9911 | 0.0002 | donor | a0001c0001t0002 | NA18966.hp1 | 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 |
| 229433188:splice 229433188:variant goto | c.-12-61C>G | 1214321 | Likely_benign | ACTA1:58 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
MODIFIER | chr1 | G | C | TogoVar |
| 229432213:splice 229432213:variant goto | c.617-28G>C | 1211344 | Likely_benign | ACTA1:58 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | NA19066.hp2 NA19083.hp1 |
MODIFIER | chr1 | C | 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 |
|---|