Canonical Allele Identifier: CA1140401344

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317737C= , CM000663.2:g.201317737C=	GRCh38
NC_000001.10:g.201286865C= , CM000663.1:g.201286865C=	GRCh37
NC_000001.9:g.199553488C=	NCBI36
NG_023337.1:g.39286C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.1012C= MANE Select	ENSP00000356293.4:p.Leu338=
ENST00000263946.7:c.1012C=	ENSP00000263946.3:p.Leu338=
ENST00000352845.3:c.1012C=	ENSP00000295597.3:p.Leu338=
ENST00000367324.7:c.1012C=	ENSP00000356293.3:p.Leu338=
ENST00000475988.1:n.354C=
ENST00000622031.4:c.1009C=	ENSP00000482213.1:p.Leu337=
NM_000299.3:c.1012C=	NP_000290.2:p.Leu338=
NM_001005337.2:c.1012C=	NP_001005337.1:p.Leu338=
NM_001005337.3:c.1012C= MANE Select	NP_001005337.1:p.Leu338=
NM_000299.4:c.1012C=	NP_000290.2:p.Leu338=