Canonical Allele Identifier: CA2340622042

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861495C= , CM000681.2:g.49861495C=	GRCh38
NC_000019.9:g.50364752C= , CM000681.1:g.50364752C=	GRCh37
NC_000019.8:g.55056564C=	NCBI36
NG_027717.1:g.11071G=
NG_050666.1:g.17652C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1402G= MANE Select	ENSP00000323511.2:p.Asp468=
ENST00000636840.1:c.59+113G=
ENST00000640501.1:c.8G=
ENST00000322344.7:c.1402G=	ENSP00000323511.2:p.Asp468=
ENST00000593946.5:c.*1329G=	ENSP00000468896.1:n.*1329G=
ENST00000594661.5:n.1903G=
ENST00000595081.5:n.305G=
ENST00000596014.5:c.1402G=	ENSP00000472300.1:p.Asp468=
ENST00000597965.2:c.109G=	ENSP00000471097.2:p.Asp37=
ENST00000599454.5:n.322G=
ENST00000600573.5:c.1309G=	ENSP00000469826.1:p.Asp437=
ENST00000600910.5:c.1292G=	ENSP00000473137.1:p.Gly431=
ENST00000601816.3:n.474G=
ENST00000625216.2:c.483G=	ENSP00000486898.1:n.483G=
ENST00000627232.2:c.1322G=	ENSP00000486037.1:n.1322G=
ENST00000631020.2:c.1294G=	ENSP00000486707.1:p.Asp432=
NM_007254.3:c.1402G=	NP_009185.2:p.Asp468=
NM_007254.4:c.1402G= MANE Select	NP_009185.2:p.Asp468=