Canonical Allele Identifier: CA423755232
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1965787
ClinVar RCV Id: RCV002711370
dbSNP Id: rs1180910414
gnomAD v4: 1-229432150-G-A
MyVariant Identifiers: chr1:g.229567897G>A (hg19) chr1:g.229432150G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432150G>A , CM000663.2:g.229432150G>A GRCh38
NC_000001.10:g.229567897G>A , CM000663.1:g.229567897G>A GRCh37
NC_000001.9:g.227634520G>A NCBI36
NG_006672.1:g.6947C>T , LRG_429:g.6947C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.652C>T ENSP00000355644.4:p.Leu218=
ENST00000684723.1:c.517C>T ENSP00000508084.1:p.Leu173=
ENST00000366683.3:c.479+257C>T ENSP00000355644.3:n.479+257C>T
ENST00000366684.7:c.652C>T MANE Select ENSP00000355645.3:p.Leu218=
NM_001100.3:c.652C>T , LRG_429t1:c.652C>T NP_001091.1:p.Leu218=
NM_001100.4:c.652C>T MANE Select NP_001091.1:p.Leu218=
Search 100 bp 5'
Search 100 bp 3'