Canonical Allele Identifier: CA1226125502

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431826C= , CM000663.2:g.229431826C=	GRCh38
NC_000001.10:g.229567573C= , CM000663.1:g.229567573C=	GRCh37
NC_000001.9:g.227634196C=	NCBI36
NG_006672.1:g.7271G= , LRG_429:g.7271G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.885G=	ENSP00000355644.4:p.Leu295=
ENST00000684723.1:c.750G=	ENSP00000508084.1:p.Leu250=
ENST00000366683.3:c.516G=	ENSP00000355644.3:p.Leu172=
ENST00000366684.7:c.885G= MANE Select	ENSP00000355645.3:p.Leu295=
NM_001100.3:c.885G= , LRG_429t1:c.885G=	NP_001091.1:p.Leu295=
NM_001100.4:c.885G= MANE Select	NP_001091.1:p.Leu295=