Canonical Allele Identifier: CA345147239

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567896A>C (hg19) ; chr1:g.229432149A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432149A>C , CM000663.2:g.229432149A>C	GRCh38
NC_000001.10:g.229567896A>C , CM000663.1:g.229567896A>C	GRCh37
NC_000001.9:g.227634519A>C	NCBI36
NG_006672.1:g.6948T>G , LRG_429:g.6948T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.653T>G	ENSP00000355644.4:p.Leu218Arg
ENST00000684723.1:c.518T>G	ENSP00000508084.1:p.Leu173Arg
ENST00000366683.3:c.479+258T>G	ENSP00000355644.3:n.479+258T>G
ENST00000366684.7:c.653T>G MANE Select	ENSP00000355645.3:p.Leu218Arg
NM_001100.3:c.653T>G , LRG_429t1:c.653T>G	NP_001091.1:p.Leu218Arg
NM_001100.4:c.653T>G MANE Select	NP_001091.1:p.Leu218Arg