Canonical Allele Identifier: CA1324126
Gene: PKP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294808
ClinVar RCV Id: RCV000388950 RCV001610803
dbSNP Id: rs35507614
ExAC: 1:201282573 A / G
gnomAD v2: 1-201282573-A-G
gnomAD v3: 1-201313445-A-G
gnomAD v4: 1-201313445-A-G
MyVariant Identifiers: chr1:g.201282573A>G (hg19) chr1:g.201313445A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201313445A>G , CM000663.2:g.201313445A>G GRCh38
NC_000001.10:g.201282573A>G , CM000663.1:g.201282573A>G GRCh37
NC_000001.9:g.199549196A>G NCBI36
NG_023337.1:g.34994A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.586A>G MANE Select ENSP00000356293.4:p.Ile196Val
ENST00000263946.7:c.586A>G ENSP00000263946.3:p.Ile196Val
ENST00000352845.3:c.586A>G ENSP00000295597.3:p.Ile196Val
ENST00000367324.7:c.586A>G ENSP00000356293.3:p.Ile196Val
ENST00000622031.4:c.586A>G ENSP00000482213.1:p.Ile196Val
NM_000299.3:c.586A>G NP_000290.2:p.Ile196Val
NM_001005337.2:c.586A>G NP_001005337.1:p.Ile196Val
NM_001005337.3:c.586A>G MANE Select NP_001005337.1:p.Ile196Val
NM_000299.4:c.586A>G NP_000290.2:p.Ile196Val
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