Canonical Allele Identifier: CA1324057
Gene: PKP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294804
ClinVar RCV Id: RCV000328092 RCV000974877 RCV003920195
dbSNP Id: rs34626929
ExAC: 1:201282334 G / A
gnomAD v2: 1-201282334-G-A
gnomAD v3: 1-201313206-G-A
gnomAD v4: 1-201313206-G-A
MyVariant Identifiers: chr1:g.201282334G>A (hg19) chr1:g.201313206G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201313206G>A , CM000663.2:g.201313206G>A GRCh38
NC_000001.10:g.201282334G>A , CM000663.1:g.201282334G>A GRCh37
NC_000001.9:g.199548957G>A NCBI36
NG_023337.1:g.34755G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.347G>A MANE Select ENSP00000356293.4:p.Arg116His
ENST00000263946.7:c.347G>A ENSP00000263946.3:p.Arg116His
ENST00000352845.3:c.347G>A ENSP00000295597.3:p.Arg116His
ENST00000367324.7:c.347G>A ENSP00000356293.3:p.Arg116His
ENST00000622031.4:c.347G>A ENSP00000482213.1:p.Arg116His
NM_000299.3:c.347G>A NP_000290.2:p.Arg116His
NM_001005337.2:c.347G>A NP_001005337.1:p.Arg116His
NM_001005337.3:c.347G>A MANE Select NP_001005337.1:p.Arg116His
NM_000299.4:c.347G>A NP_000290.2:p.Arg116His
Search 100 bp 5'
Search 100 bp 3'