Canonical Allele Identifier: CA258136

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 18283
• ClinVar RCV Id: RCV000019945 ; RCV001270724 ; RCV001804741 ; RCV003151732 ; RCV002504811
• dbSNP Id: rs121909523
• gnomAD v2: 1-229567767-T-A
• gnomAD v4: 1-229432020-T-A
• MyVariant Identifiers: chr1:g.229567767T>A (hg19) ; chr1:g.229432020T>A (hg38)
• PubMed: PMID:10508519

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432020T>A , CM000663.2:g.229432020T>A	GRCh38
NC_000001.10:g.229567767T>A , CM000663.1:g.229567767T>A	GRCh37
NC_000001.9:g.227634390T>A	NCBI36
NG_006672.1:g.7077A>T , LRG_429:g.7077A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.782A>T	ENSP00000355644.4:p.Glu261Val
ENST00000684723.1:c.647A>T	ENSP00000508084.1:p.Glu216Val
ENST00000366683.3:c.480-158A>T	ENSP00000355644.3:n.480-158A>T
ENST00000366684.7:c.782A>T MANE Select	ENSP00000355645.3:p.Glu261Val
NM_001100.3:c.782A>T , LRG_429t1:c.782A>T	NP_001091.1:p.Glu261Val
NM_001100.4:c.782A>T MANE Select	NP_001091.1:p.Glu261Val