Canonical Allele Identifier: CA258130

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 18279
• ClinVar RCV Id: RCV000019941 ; RCV003151730 ; RCV001731311
• 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

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