Canonical Allele Identifier: CA1219691321

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317775G= , CM000663.2:g.201317775G=	GRCh38
NC_000001.10:g.201286903G= , CM000663.1:g.201286903G=	GRCh37
NC_000001.9:g.199553526G=	NCBI36
NG_023337.1:g.39324G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.1050G= MANE Select	ENSP00000356293.4:p.Leu350=
ENST00000263946.7:c.1050G=	ENSP00000263946.3:p.Leu350=
ENST00000352845.3:c.1050G=	ENSP00000295597.3:p.Leu350=
ENST00000367324.7:c.1050G=	ENSP00000356293.3:p.Leu350=
ENST00000475988.1:n.392G=
ENST00000622031.4:c.1047G=	ENSP00000482213.1:p.Leu349=
NM_000299.3:c.1050G=	NP_000290.2:p.Leu350=
NM_001005337.2:c.1050G=	NP_001005337.1:p.Leu350=
NM_001005337.3:c.1050G= MANE Select	NP_001005337.1:p.Leu350=
NM_000299.4:c.1050G=	NP_000290.2:p.Leu350=