Canonical Allele Identifier: CA423754834

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229431595-G-A
• MyVariant Identifiers: chr1:g.229567342G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431595G>A , CM000663.2:g.229431595G>A	GRCh38
NC_000001.10:g.229567342G>A , CM000663.1:g.229567342G>A	GRCh37
NC_000001.9:g.227633965G>A	NCBI36
NG_006672.1:g.7502C>T , LRG_429:g.7502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.991-31C>T	ENSP00000355644.4:n.991-31C>T
ENST00000684723.1:c.903C>T	ENSP00000508084.1:p.Ser301=
ENST00000366683.3:c.669C>T	ENSP00000355644.3:p.Ser223=
ENST00000366684.7:c.1038C>T MANE Select	ENSP00000355645.3:p.Ser346=
NM_001100.3:c.1038C>T , LRG_429t1:c.1038C>T	NP_001091.1:p.Ser346=
NM_001100.4:c.1038C>T MANE Select	NP_001091.1:p.Ser346=