Canonical Allele Identifier: CA1324240
Gene: PKP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2333850
ClinVar RCV Id: RCV002935878
dbSNP Id: rs142112484
ExAC: 1:201286772 G / A
gnomAD v2: 1-201286772-G-A
gnomAD v3: 1-201317644-G-A
gnomAD v4: 1-201317644-G-A
MyVariant Identifiers: chr1:g.201286772G>A (hg19) chr1:g.201317644G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317644G>A , CM000663.2:g.201317644G>A GRCh38
NC_000001.10:g.201286772G>A , CM000663.1:g.201286772G>A GRCh37
NC_000001.9:g.199553395G>A NCBI36
NG_023337.1:g.39193G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367324.8:c.919G>A MANE Select ENSP00000356293.4:p.Ala307Thr
ENST00000263946.7:c.919G>A ENSP00000263946.3:p.Ala307Thr
ENST00000352845.3:c.919G>A ENSP00000295597.3:p.Ala307Thr
ENST00000367324.7:c.919G>A ENSP00000356293.3:p.Ala307Thr
ENST00000475988.1:n.261G>A
ENST00000622031.4:c.916G>A ENSP00000482213.1:p.Ala306Thr
NM_000299.3:c.919G>A NP_000290.2:p.Ala307Thr
NM_001005337.2:c.919G>A NP_001005337.1:p.Ala307Thr
NM_001005337.3:c.919G>A MANE Select NP_001005337.1:p.Ala307Thr
NM_000299.4:c.919G>A NP_000290.2:p.Ala307Thr
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