Canonical Allele Identifier: CA345144708

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567346C>A (hg19) ; chr1:g.229431599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431599C>A , CM000663.2:g.229431599C>A	GRCh38
NC_000001.10:g.229567346C>A , CM000663.1:g.229567346C>A	GRCh37
NC_000001.9:g.227633969C>A	NCBI36
NG_006672.1:g.7498G>T , LRG_429:g.7498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.991-35G>T	ENSP00000355644.4:n.991-35G>T
ENST00000684723.1:c.899G>T	ENSP00000508084.1:p.Gly300Val
ENST00000366683.3:c.665G>T	ENSP00000355644.3:p.Gly222Val
ENST00000366684.7:c.1034G>T MANE Select	ENSP00000355645.3:p.Gly345Val
NM_001100.3:c.1034G>T , LRG_429t1:c.1034G>T	NP_001091.1:p.Gly345Val
NM_001100.4:c.1034G>T MANE Select	NP_001091.1:p.Gly345Val