Canonical Allele Identifier: CA344180021

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201320265A>T , CM000663.2:g.201320265A>T	GRCh38
NC_000001.10:g.201289393A>T , CM000663.1:g.201289393A>T	GRCh37
NC_000001.9:g.199556016A>T	NCBI36
NG_023337.1:g.41814A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001005337.3:c.1233-2A>T MANE Select	NP_001005337.1:n.1233-2A>T
ENST00000367324.8:c.1233-2A>T MANE Select	ENSP00000356293.4:n.1233-2A>T
NM_000299.3:c.1296-2A>T	NP_000290.2:n.1296-2A>T
NM_000299.4:c.1296-2A>T	NP_000290.2:n.1296-2A>T
NM_001005337.2:c.1233-2A>T	NP_001005337.1:n.1233-2A>T
ENST00000263946.7:c.1296-2A>T	ENSP00000263946.3:n.1296-2A>T
ENST00000352845.3:c.1296-2A>T	ENSP00000295597.3:n.1296-2A>T
ENST00000367324.7:c.1233-2A>T	ENSP00000356293.3:n.1233-2A>T
ENST00000622031.4:c.1230-2A>T	ENSP00000482213.1:n.1230-2A>T