Canonical Allele Identifier: CA2340621935

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861364T= , CM000681.2:g.49861364T=	GRCh38
NC_000019.9:g.50364621T= , CM000681.1:g.50364621T=	GRCh37
NC_000019.8:g.55056433T=	NCBI36
NG_027717.1:g.11202A=
NG_050666.1:g.17521T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1450A= MANE Select	ENSP00000323511.2:p.Lys484=
ENST00000636840.1:c.59+244A=
ENST00000640501.1:c.55-3A=
ENST00000322344.7:c.1450A=	ENSP00000323511.2:p.Lys484=
ENST00000593946.5:c.*1377A=	ENSP00000468896.1:n.*1377A=
ENST00000594661.5:n.1951A=
ENST00000595081.5:n.353A=
ENST00000596014.5:c.1450A=	ENSP00000472300.1:p.Lys484=
ENST00000597965.2:c.240A=	ENSP00000471097.2:n.240A=
ENST00000599454.5:n.370A=
ENST00000600573.5:c.1357A=	ENSP00000469826.1:p.Lys453=
ENST00000600910.5:c.1340A=	ENSP00000473137.1:p.Glu447=
ENST00000601816.3:n.522A=
ENST00000625216.2:c.531A=	ENSP00000486898.1:n.531A=
ENST00000627232.2:c.1370A=	ENSP00000486037.1:n.1370A=
ENST00000631020.2:c.1342A=	ENSP00000486707.1:p.Lys448=
NM_007254.3:c.1450A=	NP_009185.2:p.Lys484=
NM_007254.4:c.1450A= MANE Select	NP_009185.2:p.Lys484=