Canonical Allele Identifier: CA1226125384

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431570G= , CM000663.2:g.229431570G=	GRCh38
NC_000001.10:g.229567317G= , CM000663.1:g.229567317G=	GRCh37
NC_000001.9:g.227633940G=	NCBI36
NG_006672.1:g.7527C= , LRG_429:g.7527C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.991-6C=	ENSP00000355644.4:n.991-6C=
ENST00000684723.1:c.928C=	ENSP00000508084.1:p.Gln310=
ENST00000366683.3:c.694C=	ENSP00000355644.3:p.Gln232=
ENST00000366684.7:c.1063C= MANE Select	ENSP00000355645.3:p.Gln355=
NM_001100.3:c.1063C= , LRG_429t1:c.1063C=	NP_001091.1:p.Gln355=
NM_001100.4:c.1063C= MANE Select	NP_001091.1:p.Gln355=