Canonical Allele Identifier: CA2340622050

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861504C= , CM000681.2:g.49861504C=	GRCh38
NC_000019.9:g.50364761C= , CM000681.1:g.50364761C=	GRCh37
NC_000019.8:g.55056573C=	NCBI36
NG_027717.1:g.11062G=
NG_050666.1:g.17661C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1393G= MANE Select	ENSP00000323511.2:p.Glu465=
ENST00000636840.1:c.59+104G=
ENST00000322344.7:c.1393G=	ENSP00000323511.2:p.Glu465=
ENST00000593946.5:c.*1320G=	ENSP00000468896.1:n.*1320G=
ENST00000594661.5:n.1894G=
ENST00000595081.5:n.296G=
ENST00000596014.5:c.1393G=	ENSP00000472300.1:p.Glu465=
ENST00000597965.2:c.100G=	ENSP00000471097.2:p.Glu34=
ENST00000599454.5:n.313G=
ENST00000600573.5:c.1300G=	ENSP00000469826.1:p.Glu434=
ENST00000600910.5:c.1283G=	ENSP00000473137.1:p.Arg428=
ENST00000601816.3:n.465G=
ENST00000625216.2:c.474G=	ENSP00000486898.1:n.474G=
ENST00000627232.2:c.1313G=	ENSP00000486037.1:n.1313G=
ENST00000631020.2:c.1285G=	ENSP00000486707.1:p.Glu429=
NM_007254.3:c.1393G=	NP_009185.2:p.Glu465=
NM_007254.4:c.1393G= MANE Select	NP_009185.2:p.Glu465=