Canonical Allele Identifier: CA345147036

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229432113-G-A
• MyVariant Identifiers: chr1:g.229567860G>A (hg19) ; chr1:g.229432113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432113G>A , CM000663.2:g.229432113G>A	GRCh38
NC_000001.10:g.229567860G>A , CM000663.1:g.229567860G>A	GRCh37
NC_000001.9:g.227634483G>A	NCBI36
NG_006672.1:g.6984C>T , LRG_429:g.6984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.689C>T	ENSP00000355644.4:p.Ala230Val
ENST00000684723.1:c.554C>T	ENSP00000508084.1:p.Ala185Val
ENST00000366683.3:c.480-251C>T	ENSP00000355644.3:n.480-251C>T
ENST00000366684.7:c.689C>T MANE Select	ENSP00000355645.3:p.Ala230Val
NM_001100.3:c.689C>T , LRG_429t1:c.689C>T	NP_001091.1:p.Ala230Val
NM_001100.4:c.689C>T MANE Select	NP_001091.1:p.Ala230Val