Canonical Allele Identifier: CA345144203
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431989
ClinVar RCV Id: RCV000497587 RCV001857006
dbSNP Id: rs1553255293
MyVariant Identifiers: chr1:g.229567274G>A (hg19) chr1:g.229431527G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431527G>A , CM000663.2:g.229431527G>A GRCh38
NC_000001.10:g.229567274G>A , CM000663.1:g.229567274G>A GRCh37
NC_000001.9:g.227633897G>A NCBI36
NG_006672.1:g.7570C>T , LRG_429:g.7570C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1028C>T ENSP00000355644.4:p.Pro343Leu
ENST00000684723.1:c.971C>T ENSP00000508084.1:p.Pro324Leu
ENST00000366683.3:c.737C>T ENSP00000355644.3:p.Pro246Leu
ENST00000366684.7:c.1106C>T MANE Select ENSP00000355645.3:p.Pro369Leu
NM_001100.3:c.1106C>T , LRG_429t1:c.1106C>T NP_001091.1:p.Pro369Leu
NM_001100.4:c.1106C>T MANE Select NP_001091.1:p.Pro369Leu
Search 100 bp 5'
Search 100 bp 3'