Canonical Allele Identifier: CA2340622046

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861499C= , CM000681.2:g.49861499C=	GRCh38
NC_000019.9:g.50364756C= , CM000681.1:g.50364756C=	GRCh37
NC_000019.8:g.55056568C=	NCBI36
NG_027717.1:g.11067G=
NG_050666.1:g.17656C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1398G= MANE Select	ENSP00000323511.2:p.Met466=
ENST00000636840.1:c.59+109G=
ENST00000640501.1:c.4G=
ENST00000322344.7:c.1398G=	ENSP00000323511.2:p.Met466=
ENST00000593946.5:c.*1325G=	ENSP00000468896.1:n.*1325G=
ENST00000594661.5:n.1899G=
ENST00000595081.5:n.301G=
ENST00000596014.5:c.1398G=	ENSP00000472300.1:p.Met466=
ENST00000597965.2:c.105G=	ENSP00000471097.2:p.Met35=
ENST00000599454.5:n.318G=
ENST00000600573.5:c.1305G=	ENSP00000469826.1:p.Met435=
ENST00000600910.5:c.1288G=	ENSP00000473137.1:p.Asp430=
ENST00000601816.3:n.470G=
ENST00000625216.2:c.479G=	ENSP00000486898.1:n.479G=
ENST00000627232.2:c.1318G=	ENSP00000486037.1:n.1318G=
ENST00000631020.2:c.1290G=	ENSP00000486707.1:p.Met430=
NM_007254.3:c.1398G=	NP_009185.2:p.Met466=
NM_007254.4:c.1398G= MANE Select	NP_009185.2:p.Met466=