Canonical Allele Identifier: CA1219691319

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317772G= , CM000663.2:g.201317772G=	GRCh38
NC_000001.10:g.201286900G= , CM000663.1:g.201286900G=	GRCh37
NC_000001.9:g.199553523G=	NCBI36
NG_023337.1:g.39321G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.1047G= MANE Select	ENSP00000356293.4:p.Gln349=
ENST00000263946.7:c.1047G=	ENSP00000263946.3:p.Gln349=
ENST00000352845.3:c.1047G=	ENSP00000295597.3:p.Gln349=
ENST00000367324.7:c.1047G=	ENSP00000356293.3:p.Gln349=
ENST00000475988.1:n.389G=
ENST00000622031.4:c.1044G=	ENSP00000482213.1:p.Gln348=
NM_000299.3:c.1047G=	NP_000290.2:p.Gln349=
NM_001005337.2:c.1047G=	NP_001005337.1:p.Gln349=
NM_001005337.3:c.1047G= MANE Select	NP_001005337.1:p.Gln349=
NM_000299.4:c.1047G=	NP_000290.2:p.Gln349=