Canonical Allele Identifier: CA345144440

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 2008339
• ClinVar RCV Id: RCV002833792
• MyVariant Identifiers: chr1:g.229567305T>C (hg19) ; chr1:g.229431558T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431558T>C , CM000663.2:g.229431558T>C	GRCh38
NC_000001.10:g.229567305T>C , CM000663.1:g.229567305T>C	GRCh37
NC_000001.9:g.227633928T>C	NCBI36
NG_006672.1:g.7539A>G , LRG_429:g.7539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.997A>G	ENSP00000355644.4:p.Ile333Val
ENST00000684723.1:c.940A>G	ENSP00000508084.1:p.Ile314Val
ENST00000366683.3:c.706A>G	ENSP00000355644.3:p.Ile236Val
ENST00000366684.7:c.1075A>G MANE Select	ENSP00000355645.3:p.Ile359Val
NM_001100.3:c.1075A>G , LRG_429t1:c.1075A>G	NP_001091.1:p.Ile359Val
NM_001100.4:c.1075A>G MANE Select	NP_001091.1:p.Ile359Val