Canonical Allele Identifier: CA345144178

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567269T>C (hg19) ; chr1:g.229431522T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431522T>C , CM000663.2:g.229431522T>C	GRCh38
NC_000001.10:g.229567269T>C , CM000663.1:g.229567269T>C	GRCh37
NC_000001.9:g.227633892T>C	NCBI36
NG_006672.1:g.7575A>G , LRG_429:g.7575A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.1033A>G	ENSP00000355644.4:p.Ile345Val
ENST00000684723.1:c.976A>G	ENSP00000508084.1:p.Ile326Val
ENST00000366683.3:c.742A>G	ENSP00000355644.3:p.Ile248Val
ENST00000366684.7:c.1111A>G MANE Select	ENSP00000355645.3:p.Ile371Val
NM_001100.3:c.1111A>G , LRG_429t1:c.1111A>G	NP_001091.1:p.Ile371Val
NM_001100.4:c.1111A>G MANE Select	NP_001091.1:p.Ile371Val