Canonical Allele Identifier: CA423754868

Gene: ACTA1

Linked Data

• COSMIC: COSM242792
• MyVariant Identifiers: chr1:g.229567573C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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