Canonical Allele Identifier: CA10991799

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201322889G>A , CM000663.2:g.201322889G>A	GRCh38
NC_000001.10:g.201292017G>A , CM000663.1:g.201292017G>A	GRCh37
NC_000001.9:g.199558640G>A	NCBI36
NG_023337.1:g.44438G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001005337.3:c.1504-124G>A MANE Select	NP_001005337.1:n.1504-124G>A
ENST00000367324.8:c.1504-124G>A MANE Select	ENSP00000356293.4:n.1504-124G>A
NM_000299.3:c.1567-124G>A	NP_000290.2:n.1567-124G>A
NM_000299.4:c.1567-124G>A	NP_000290.2:n.1567-124G>A
NM_001005337.2:c.1504-124G>A	NP_001005337.1:n.1504-124G>A
ENST00000263946.7:c.1567-124G>A	ENSP00000263946.3:n.1567-124G>A
ENST00000352845.3:c.1567-124G>A	ENSP00000295597.3:n.1567-124G>A
ENST00000367324.7:c.1504-124G>A	ENSP00000356293.3:n.1504-124G>A
ENST00000622031.4:c.1501-124G>A	ENSP00000482213.1:n.1501-124G>A