Canonical Allele Identifier: CA258130
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18279
ClinVar RCV Id: RCV000019941 RCV001731311 RCV003151730
dbSNP Id: rs121909519
gnomAD v3: 1-229432723-A-G
gnomAD v4: 1-229432723-A-G
MyVariant Identifiers: chr1:g.229568470A>G (hg19) chr1:g.229432723A>G (hg38)
PubMed: PMID:10508519
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432723A>G , CM000663.2:g.229432723A>G GRCh38
NC_000001.10:g.229568470A>G , CM000663.1:g.229568470A>G GRCh37
NC_000001.9:g.227635093A>G NCBI36
NG_006672.1:g.6374T>C , LRG_429:g.6374T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.287T>C ENSP00000355644.4:p.Leu96Pro
ENST00000684723.1:c.152T>C ENSP00000508084.1:p.Leu51Pro
ENST00000366683.3:c.287T>C ENSP00000355644.3:p.Leu96Pro
ENST00000366684.7:c.287T>C MANE Select ENSP00000355645.3:p.Leu96Pro
NM_001100.3:c.287T>C , LRG_429t1:c.287T>C NP_001091.1:p.Leu96Pro
NM_001100.4:c.287T>C MANE Select NP_001091.1:p.Leu96Pro
Search 100 bp 5'
Search 100 bp 3'