Canonical Allele Identifier: CA1219691233
Gene: PKP1 HGNC NCBI

Linked Data

dbSNP Id: rs1656793102
gnomAD v4: 1-201317549-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317549G>A , CM000663.2:g.201317549G>A GRCh38
NC_000001.10:g.201286677G>A , CM000663.1:g.201286677G>A GRCh37
NC_000001.9:g.199553300G>A NCBI36
NG_023337.1:g.39098G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367324.8:c.847-23G>A MANE Select ENSP00000356293.4:n.847-23G>A
ENST00000263946.7:c.847-23G>A ENSP00000263946.3:n.847-23G>A
ENST00000352845.3:c.847-23G>A ENSP00000295597.3:n.847-23G>A
ENST00000367324.7:c.847-23G>A ENSP00000356293.3:n.847-23G>A
ENST00000475988.1:n.189-23G>A
ENST00000622031.4:c.844-23G>A ENSP00000482213.1:n.844-23G>A
NM_000299.3:c.847-23G>A NP_000290.2:n.847-23G>A
NM_001005337.2:c.847-23G>A NP_001005337.1:n.847-23G>A
NM_001005337.3:c.847-23G>A MANE Select NP_001005337.1:n.847-23G>A
NM_000299.4:c.847-23G>A NP_000290.2:n.847-23G>A
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