Canonical Allele Identifier: CA2340622115

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861560G= , CM000681.2:g.49861560G=	GRCh38
NC_000019.9:g.50364817G= , CM000681.1:g.50364817G=	GRCh37
NC_000019.8:g.55056629G=	NCBI36
NG_027717.1:g.11006C=
NG_050666.1:g.17717G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1386+48C= MANE Select	ENSP00000323511.2:n.1386+48C=
ENST00000636840.1:c.59+48C=
ENST00000322344.7:c.1386+48C=	ENSP00000323511.2:n.1386+48C=
ENST00000593946.5:c.*1313+48C=	ENSP00000468896.1:n.*1313+48C=
ENST00000594661.5:n.1887+48C=
ENST00000595081.5:n.289+48C=
ENST00000596014.5:c.1386+48C=	ENSP00000472300.1:n.1386+48C=
ENST00000597965.2:c.93+48C=	ENSP00000471097.2:n.93+48C=
ENST00000599454.5:n.306+48C=
ENST00000600573.5:c.1293+48C=	ENSP00000469826.1:n.1293+48C=
ENST00000600910.5:c.1276+48C=	ENSP00000473137.1:n.1276+48C=
ENST00000601816.3:n.409C=
ENST00000625216.2:c.467+48C=	ENSP00000486898.1:n.467+48C=
ENST00000627232.2:c.1306+48C=	ENSP00000486037.1:n.1306+48C=
ENST00000631020.2:c.1278+48C=	ENSP00000486707.1:n.1278+48C=
NM_007254.3:c.1386+48C=	NP_009185.2:n.1386+48C=
NM_007254.4:c.1386+48C= MANE Select	NP_009185.2:n.1386+48C=