Canonical Allele Identifier: CA2340622663

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862188C= , CM000681.2:g.49862188C=	GRCh38
NC_000019.9:g.50365445C= , CM000681.1:g.50365445C=	GRCh37
NC_000019.8:g.55057257C=	NCBI36
NG_027717.1:g.10378G=
NG_050666.1:g.18345C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1123G= MANE Select	ENSP00000323511.2:p.Gly375=
ENST00000322344.7:c.1123G=	ENSP00000323511.2:p.Gly375=
ENST00000593706.3:n.478G=
ENST00000593946.5:c.*1050G=	ENSP00000468896.1:n.*1050G=
ENST00000594661.5:n.1624G=
ENST00000596014.5:c.1123G=	ENSP00000472300.1:p.Gly375=
ENST00000600573.5:c.1030G=	ENSP00000469826.1:p.Gly344=
ENST00000600910.5:c.1123G=	ENSP00000473137.1:p.Gly375=
ENST00000601816.3:n.22G=
ENST00000625216.2:c.208-83G=	ENSP00000486898.1:n.208-83G=
ENST00000627232.2:c.1043G=	ENSP00000486037.1:n.1043G=
ENST00000627317.1:c.744G=
ENST00000631020.2:c.1015G=	ENSP00000486707.1:p.Gly339=
NM_007254.3:c.1123G=	NP_009185.2:p.Gly375=
NM_007254.4:c.1123G= MANE Select	NP_009185.2:p.Gly375=