Canonical Allele Identifier: CA1324593

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201324489G>A , CM000663.2:g.201324489G>A	GRCh38
NC_000001.10:g.201293617G>A , CM000663.1:g.201293617G>A	GRCh37
NC_000001.9:g.199560240G>A	NCBI36
NG_023337.1:g.46038G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001005337.3:c.1742G>A MANE Select	NP_001005337.1:p.Arg581His
ENST00000367324.8:c.1742G>A MANE Select	ENSP00000356293.4:p.Arg581His
NM_000299.3:c.1805G>A	NP_000290.2:p.Arg602His
NM_000299.4:c.1805G>A	NP_000290.2:p.Arg602His
NM_001005337.2:c.1742G>A	NP_001005337.1:p.Arg581His
ENST00000263946.7:c.1805G>A	ENSP00000263946.3:p.Arg602His
ENST00000352845.3:c.1805G>A	ENSP00000295597.3:p.Arg602His
ENST00000367324.7:c.1742G>A	ENSP00000356293.3:p.Arg581His
ENST00000622031.4:c.1739G>A	ENSP00000482213.1:p.Arg580His