Canonical Allele Identifier: CA2340622870

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862432G= , CM000681.2:g.49862432G=	GRCh38
NC_000019.9:g.50365689G= , CM000681.1:g.50365689G=	GRCh37
NC_000019.8:g.55057501G=	NCBI36
NG_027717.1:g.10134C=
NG_050666.1:g.18589G=

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.968C= MANE Select	NP_009185.2:p.Thr323=
ENST00000322344.8:c.968C= MANE Select	ENSP00000323511.2:p.Thr323=
NM_007254.3:c.968C=	NP_009185.2:p.Thr323=
ENST00000322344.7:c.968C=	ENSP00000323511.2:p.Thr323=
ENST00000593706.3:n.323C=
ENST00000593946.5:c.*895C=	ENSP00000468896.1:n.*895C=
ENST00000594661.5:n.1469C=
ENST00000596014.5:c.968C=	ENSP00000472300.1:p.Thr323=
ENST00000600573.5:c.936+106C=	ENSP00000469826.1:n.936+106C=
ENST00000600910.5:c.968C=	ENSP00000473137.1:p.Thr323=
ENST00000625216.2:c.146C=	ENSP00000486898.1:p.Thr49=
ENST00000627232.2:c.888C=	ENSP00000486037.1:n.888C=
ENST00000627317.1:c.589C=
ENST00000629179.1:n.739C=
ENST00000631020.2:c.860C=	ENSP00000486707.1:p.Thr287=