Canonical Allele Identifier: CA422716413

Gene: PKP1

Linked Data

• gnomAD v4: 1-201317616-C-A
• MyVariant Identifiers: chr1:g.201286744C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317616C>A , CM000663.2:g.201317616C>A	GRCh38
NC_000001.10:g.201286744C>A , CM000663.1:g.201286744C>A	GRCh37
NC_000001.9:g.199553367C>A	NCBI36
NG_023337.1:g.39165C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.891C>A MANE Select	ENSP00000356293.4:p.Arg297=
ENST00000263946.7:c.891C>A	ENSP00000263946.3:p.Arg297=
ENST00000352845.3:c.891C>A	ENSP00000295597.3:p.Arg297=
ENST00000367324.7:c.891C>A	ENSP00000356293.3:p.Arg297=
ENST00000475988.1:n.233C>A
ENST00000622031.4:c.888C>A	ENSP00000482213.1:p.Arg296=
NM_000299.3:c.891C>A	NP_000290.2:p.Arg297=
NM_001005337.2:c.891C>A	NP_001005337.1:p.Arg297=
NM_001005337.3:c.891C>A MANE Select	NP_001005337.1:p.Arg297=
NM_000299.4:c.891C>A	NP_000290.2:p.Arg297=