Canonical Allele Identifier: CA1226125403

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431616G= , CM000663.2:g.229431616G=	GRCh38
NC_000001.10:g.229567363G= , CM000663.1:g.229567363G=	GRCh37
NC_000001.9:g.227633986G=	NCBI36
NG_006672.1:g.7481C= , LRG_429:g.7481C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.991-52C=	ENSP00000355644.4:n.991-52C=
ENST00000684723.1:c.882C=	ENSP00000508084.1:p.Tyr294=
ENST00000366683.3:c.648C=	ENSP00000355644.3:p.Tyr216=
ENST00000366684.7:c.1017C= MANE Select	ENSP00000355645.3:p.Tyr339=
NM_001100.3:c.1017C= , LRG_429t1:c.1017C=	NP_001091.1:p.Tyr339=
NM_001100.4:c.1017C= MANE Select	NP_001091.1:p.Tyr339=