Canonical Allele Identifier: CA345146916
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 642876
ClinVar RCV Id: RCV000796425
dbSNP Id: rs1571893051
gnomAD v4: 1-229432089-A-G
MyVariant Identifiers: chr1:g.229567836A>G (hg19) chr1:g.229432089A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432089A>G , CM000663.2:g.229432089A>G GRCh38
NC_000001.10:g.229567836A>G , CM000663.1:g.229567836A>G GRCh37
NC_000001.9:g.227634459A>G NCBI36
NG_006672.1:g.7008T>C , LRG_429:g.7008T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.713T>C ENSP00000355644.4:p.Leu238Pro
ENST00000684723.1:c.578T>C ENSP00000508084.1:p.Leu193Pro
ENST00000366683.3:c.480-227T>C ENSP00000355644.3:n.480-227T>C
ENST00000366684.7:c.713T>C MANE Select ENSP00000355645.3:p.Leu238Pro
NM_001100.3:c.713T>C , LRG_429t1:c.713T>C NP_001091.1:p.Leu238Pro
NM_001100.4:c.713T>C MANE Select NP_001091.1:p.Leu238Pro
Search 100 bp 5'
Search 100 bp 3'