Canonical Allele Identifier: CA1323960
Gene: PKP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 256861
ClinVar RCV Id: RCV000250310 RCV000361551 RCV001594896
dbSNP Id: rs2268147
ExAC: 1:201252866 C / T
gnomAD v2: 1-201252866-C-T
gnomAD v3: 1-201283738-C-T
gnomAD v4: 1-201283738-C-T
MyVariant Identifiers: chr1:g.201252866C>T (hg19) chr1:g.201283738C>T (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201283738C>T , CM000663.2:g.201283738C>T GRCh38
NC_000001.10:g.201252866C>T , CM000663.1:g.201252866C>T GRCh37
NC_000001.9:g.199519489C>T NCBI36
NG_023337.1:g.5287C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.36C>T MANE Select ENSP00000356293.4:p.Tyr12=
ENST00000263946.7:c.36C>T ENSP00000263946.3:p.Tyr12=
ENST00000352845.3:c.36C>T ENSP00000295597.3:p.Tyr12=
ENST00000367324.7:c.36C>T ENSP00000356293.3:p.Tyr12=
ENST00000622031.4:c.36C>T ENSP00000482213.1:p.Tyr12=
NM_000299.3:c.36C>T NP_000290.2:p.Tyr12=
NM_001005337.2:c.36C>T NP_001005337.1:p.Tyr12=
NM_001005337.3:c.36C>T MANE Select NP_001005337.1:p.Tyr12=
NM_000299.4:c.36C>T NP_000290.2:p.Tyr12=
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