Canonical Allele Identifier: CA423755241
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 464129
ClinVar RCV Id: RCV000529766
dbSNP Id: rs1553255420
MyVariant Identifiers: chr1:g.229567904C>T (hg19) chr1:g.229432157C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432157C>T , CM000663.2:g.229432157C>T GRCh38
NC_000001.10:g.229567904C>T , CM000663.1:g.229567904C>T GRCh37
NC_000001.9:g.227634527C>T NCBI36
NG_006672.1:g.6940G>A , LRG_429:g.6940G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.645G>A ENSP00000355644.4:p.Lys215=
ENST00000684723.1:c.510G>A ENSP00000508084.1:p.Lys170=
ENST00000366683.3:c.479+250G>A ENSP00000355644.3:n.479+250G>A
ENST00000366684.7:c.645G>A MANE Select ENSP00000355645.3:p.Lys215=
NM_001100.3:c.645G>A , LRG_429t1:c.645G>A NP_001091.1:p.Lys215=
NM_001100.4:c.645G>A MANE Select NP_001091.1:p.Lys215=
Search 100 bp 5'
Search 100 bp 3'