Canonical Allele Identifier: CA258144
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18292
ClinVar RCV Id: RCV000019954 RCV001781286
dbSNP Id: rs121909522
COSMIC: COSM6028862
MyVariant Identifiers: chr1:g.229568140C>T (hg19) chr1:g.229432393C>T (hg38)
PubMed: PMID:16427282 PMID:17705262
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432393C>T , CM000663.2:g.229432393C>T GRCh38
NC_000001.10:g.229568140C>T , CM000663.1:g.229568140C>T GRCh37
NC_000001.9:g.227634763C>T NCBI36
NG_006672.1:g.6704G>A , LRG_429:g.6704G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.493G>A ENSP00000355644.4:p.Val165Met
ENST00000684723.1:c.358G>A ENSP00000508084.1:p.Val120Met
ENST00000366683.3:c.479+14G>A ENSP00000355644.3:n.479+14G>A
ENST00000366684.7:c.493G>A MANE Select ENSP00000355645.3:p.Val165Met
NM_001100.3:c.493G>A , LRG_429t1:c.493G>A NP_001091.1:p.Val165Met
NM_001100.4:c.493G>A MANE Select NP_001091.1:p.Val165Met
Search 100 bp 5'
Search 100 bp 3'