Canonical Allele Identifier: CA345149813
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1034583
ClinVar RCV Id: RCV001337326 RCV001751657
dbSNP Id: rs146508471
gnomAD v3: 1-229432676-G-T
gnomAD v4: 1-229432676-G-T
MyVariant Identifiers: chr1:g.229568423G>T (hg19) chr1:g.229432676G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432676G>T , CM000663.2:g.229432676G>T GRCh38
NC_000001.10:g.229568423G>T , CM000663.1:g.229568423G>T GRCh37
NC_000001.9:g.227635046G>T NCBI36
NG_006672.1:g.6421C>A , LRG_429:g.6421C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.334C>A ENSP00000355644.4:p.Leu112Ile
ENST00000684723.1:c.199C>A ENSP00000508084.1:p.Leu67Ile
ENST00000366683.3:c.334C>A ENSP00000355644.3:p.Leu112Ile
ENST00000366684.7:c.334C>A MANE Select ENSP00000355645.3:p.Leu112Ile
NM_001100.3:c.334C>A , LRG_429t1:c.334C>A NP_001091.1:p.Leu112Ile
NM_001100.4:c.334C>A MANE Select NP_001091.1:p.Leu112Ile
Search 100 bp 5'
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