Canonical Allele Identifier: CA345145022

Gene: ACTA1

Linked Data

• dbSNP Id: rs1659936836
• gnomAD v4: 1-229431639-T-C
• MyVariant Identifiers: chr1:g.229567386T>C (hg19) ; chr1:g.229431639T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431639T>C , CM000663.2:g.229431639T>C	GRCh38
NC_000001.10:g.229567386T>C , CM000663.1:g.229567386T>C	GRCh37
NC_000001.9:g.227634009T>C	NCBI36
NG_006672.1:g.7458A>G , LRG_429:g.7458A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.991-75A>G	ENSP00000355644.4:n.991-75A>G
ENST00000684723.1:c.859A>G	ENSP00000508084.1:p.Ile287Val
ENST00000366683.3:c.625A>G	ENSP00000355644.3:p.Ile209Val
ENST00000366684.7:c.994A>G MANE Select	ENSP00000355645.3:p.Ile332Val
NM_001100.3:c.994A>G , LRG_429t1:c.994A>G	NP_001091.1:p.Ile332Val
NM_001100.4:c.994A>G MANE Select	NP_001091.1:p.Ile332Val