Canonical Allele Identifier: CA1324020
Gene: PKP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294802
ClinVar RCV Id: RCV000362830 RCV002059421
dbSNP Id: rs141060367
ExAC: 1:201263130 A / G
gnomAD v2: 1-201263130-A-G
gnomAD v3: 1-201294002-A-G
gnomAD v4: 1-201294002-A-G
MyVariant Identifiers: chr1:g.201263130A>G (hg19) chr1:g.201294002A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201294002A>G , CM000663.2:g.201294002A>G GRCh38
NC_000001.10:g.201263130A>G , CM000663.1:g.201263130A>G GRCh37
NC_000001.9:g.199529753A>G NCBI36
NG_023337.1:g.15551A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.263A>G MANE Select ENSP00000356293.4:p.Tyr88Cys
ENST00000263946.7:c.263A>G ENSP00000263946.3:p.Tyr88Cys
ENST00000352845.3:c.263A>G ENSP00000295597.3:p.Tyr88Cys
ENST00000367324.7:c.263A>G ENSP00000356293.3:p.Tyr88Cys
ENST00000622031.4:c.263A>G ENSP00000482213.1:p.Tyr88Cys
NM_000299.3:c.263A>G NP_000290.2:p.Tyr88Cys
NM_001005337.2:c.263A>G NP_001005337.1:p.Tyr88Cys
NM_001005337.3:c.263A>G MANE Select NP_001005337.1:p.Tyr88Cys
NM_000299.4:c.263A>G NP_000290.2:p.Tyr88Cys
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