Canonical Allele Identifier: CA345144901

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 2633560
• ClinVar RCV Id: RCV003391608
• MyVariant Identifiers: chr1:g.229567372C>G (hg19) ; chr1:g.229431625C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431625C>G , CM000663.2:g.229431625C>G	GRCh38
NC_000001.10:g.229567372C>G , CM000663.1:g.229567372C>G	GRCh37
NC_000001.9:g.227633995C>G	NCBI36
NG_006672.1:g.7472G>C , LRG_429:g.7472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.991-61G>C	ENSP00000355644.4:n.991-61G>C
ENST00000684723.1:c.873G>C	ENSP00000508084.1:p.Glu291Asp
ENST00000366683.3:c.639G>C	ENSP00000355644.3:p.Glu213Asp
ENST00000366684.7:c.1008G>C MANE Select	ENSP00000355645.3:p.Glu336Asp
NM_001100.3:c.1008G>C , LRG_429t1:c.1008G>C	NP_001091.1:p.Glu336Asp
NM_001100.4:c.1008G>C MANE Select	NP_001091.1:p.Glu336Asp