Canonical Allele Identifier: CA1324217
Gene: PKP1 HGNC NCBI

Linked Data

dbSNP Id: rs756868210
ExAC: 1:201286672 A / G
gnomAD v2: 1-201286672-A-G
MyVariant Identifiers: chr1:g.201286672A>G (hg19) chr1:g.201317544A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317544A>G , CM000663.2:g.201317544A>G GRCh38
NC_000001.10:g.201286672A>G , CM000663.1:g.201286672A>G GRCh37
NC_000001.9:g.199553295A>G NCBI36
NG_023337.1:g.39093A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367324.8:c.847-28A>G MANE Select ENSP00000356293.4:n.847-28A>G
ENST00000263946.7:c.847-28A>G ENSP00000263946.3:n.847-28A>G
ENST00000352845.3:c.847-28A>G ENSP00000295597.3:n.847-28A>G
ENST00000367324.7:c.847-28A>G ENSP00000356293.3:n.847-28A>G
ENST00000475988.1:n.189-28A>G
ENST00000622031.4:c.844-28A>G ENSP00000482213.1:n.844-28A>G
NM_000299.3:c.847-28A>G NP_000290.2:n.847-28A>G
NM_001005337.2:c.847-28A>G NP_001005337.1:n.847-28A>G
NM_001005337.3:c.847-28A>G MANE Select NP_001005337.1:n.847-28A>G
NM_000299.4:c.847-28A>G NP_000290.2:n.847-28A>G
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