Canonical Allele Identifier: CA1324227
Gene: PKP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2058562
dbSNP Id: rs150414253

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317608C>G , CM000663.2:g.201317608C>G GRCh38
NC_000001.10:g.201286736C>G , CM000663.1:g.201286736C>G GRCh37
NC_000001.9:g.199553359C>G NCBI36
NG_023337.1:g.39157C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.883C>G MANE Select ENSP00000356293.4:p.Leu295Val
ENST00000263946.7:c.883C>G ENSP00000263946.3:p.Leu295Val
ENST00000352845.3:c.883C>G ENSP00000295597.3:p.Leu295Val
ENST00000367324.7:c.883C>G ENSP00000356293.3:p.Leu295Val
ENST00000475988.1:n.225C>G
ENST00000622031.4:c.880C>G ENSP00000482213.1:p.Leu294Val
NM_000299.3:c.883C>G NP_000290.2:p.Leu295Val
NM_001005337.2:c.883C>G NP_001005337.1:p.Leu295Val
NM_001005337.3:c.883C>G MANE Select NP_001005337.1:p.Leu295Val
NM_000299.4:c.883C>G NP_000290.2:p.Leu295Val