Canonical Allele Identifier: CA345148559
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452454
ClinVar RCV Id: RCV001999819
dbSNP Id: rs2102735950
MyVariant Identifiers: chr1:g.229568124C>T (hg19) chr1:g.229432377C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432377C>T , CM000663.2:g.229432377C>T GRCh38
NC_000001.10:g.229568124C>T , CM000663.1:g.229568124C>T GRCh37
NC_000001.9:g.227634747C>T NCBI36
NG_006672.1:g.6720G>A , LRG_429:g.6720G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.509G>A ENSP00000355644.4:p.Gly170Asp
ENST00000684723.1:c.374G>A ENSP00000508084.1:p.Gly125Asp
ENST00000366683.3:c.479+30G>A ENSP00000355644.3:n.479+30G>A
ENST00000366684.7:c.509G>A MANE Select ENSP00000355645.3:p.Gly170Asp
NM_001100.3:c.509G>A , LRG_429t1:c.509G>A NP_001091.1:p.Gly170Asp
NM_001100.4:c.509G>A MANE Select NP_001091.1:p.Gly170Asp
Search 100 bp 5'
Search 100 bp 3'