Canonical Allele Identifier: CA345145861

Gene: ACTA1

Linked Data

• dbSNP Id: rs1470011143
• MyVariant Identifiers: chr1:g.229567575G>C (hg19) ; chr1:g.229431828G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431828G>C , CM000663.2:g.229431828G>C	GRCh38
NC_000001.10:g.229567575G>C , CM000663.1:g.229567575G>C	GRCh37
NC_000001.9:g.227634198G>C	NCBI36
NG_006672.1:g.7269C>G , LRG_429:g.7269C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.883C>G	ENSP00000355644.4:p.Leu295Val
ENST00000684723.1:c.748C>G	ENSP00000508084.1:p.Leu250Val
ENST00000366683.3:c.514C>G	ENSP00000355644.3:p.Leu172Val
ENST00000366684.7:c.883C>G MANE Select	ENSP00000355645.3:p.Leu295Val
NM_001100.3:c.883C>G , LRG_429t1:c.883C>G	NP_001091.1:p.Leu295Val
NM_001100.4:c.883C>G MANE Select	NP_001091.1:p.Leu295Val