Canonical Allele Identifier: CA1219691230
Gene: PKP1 HGNC NCBI

Linked Data

dbSNP Id: rs767333456
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317545G>A , CM000663.2:g.201317545G>A GRCh38
NC_000001.10:g.201286673G>A , CM000663.1:g.201286673G>A GRCh37
NC_000001.9:g.199553296G>A NCBI36
NG_023337.1:g.39094G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367324.8:c.847-27G>A MANE Select ENSP00000356293.4:n.847-27G>A
ENST00000263946.7:c.847-27G>A ENSP00000263946.3:n.847-27G>A
ENST00000352845.3:c.847-27G>A ENSP00000295597.3:n.847-27G>A
ENST00000367324.7:c.847-27G>A ENSP00000356293.3:n.847-27G>A
ENST00000475988.1:n.189-27G>A
ENST00000622031.4:c.844-27G>A ENSP00000482213.1:n.844-27G>A
NM_000299.3:c.847-27G>A NP_000290.2:n.847-27G>A
NM_001005337.2:c.847-27G>A NP_001005337.1:n.847-27G>A
NM_001005337.3:c.847-27G>A MANE Select NP_001005337.1:n.847-27G>A
NM_000299.4:c.847-27G>A NP_000290.2:n.847-27G>A
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