Canonical Allele Identifier: CA118919
Gene: PKP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7603
ClinVar RCV Id: RCV000008041
dbSNP Id: rs121918354

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317635C>T , CM000663.2:g.201317635C>T GRCh38
NC_000001.10:g.201286763C>T , CM000663.1:g.201286763C>T GRCh37
NC_000001.9:g.199553386C>T NCBI36
NG_023337.1:g.39184C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367324.8:c.910C>T MANE Select ENSP00000356293.4:p.Gln304Ter
ENST00000263946.7:c.910C>T ENSP00000263946.3:p.Gln304Ter
ENST00000352845.3:c.910C>T ENSP00000295597.3:p.Gln304Ter
ENST00000367324.7:c.910C>T ENSP00000356293.3:p.Gln304Ter
ENST00000475988.1:n.252C>T
ENST00000622031.4:c.907C>T ENSP00000482213.1:p.Gln303Ter
NM_000299.3:c.910C>T NP_000290.2:p.Gln304Ter
NM_001005337.2:c.910C>T NP_001005337.1:p.Gln304Ter
NM_001005337.3:c.910C>T MANE Select NP_001005337.1:p.Gln304Ter
NM_000299.4:c.910C>T NP_000290.2:p.Gln304Ter