Canonical Allele Identifier: CA1226125627

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432053A= , CM000663.2:g.229432053A=	GRCh38
NC_000001.10:g.229567800A= , CM000663.1:g.229567800A=	GRCh37
NC_000001.9:g.227634423A=	NCBI36
NG_006672.1:g.7044T= , LRG_429:g.7044T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.749T=	ENSP00000355644.4:p.Ile250=
ENST00000684723.1:c.614T=	ENSP00000508084.1:p.Ile205=
ENST00000366683.3:c.480-191T=	ENSP00000355644.3:n.480-191T=
ENST00000366684.7:c.749T= MANE Select	ENSP00000355645.3:p.Ile250=
NM_001100.3:c.749T= , LRG_429t1:c.749T=	NP_001091.1:p.Ile250=
NM_001100.4:c.749T= MANE Select	NP_001091.1:p.Ile250=