Canonical Allele Identifier: CA2340622051

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861506C= , CM000681.2:g.49861506C=	GRCh38
NC_000019.9:g.50364763C= , CM000681.1:g.50364763C=	GRCh37
NC_000019.8:g.55056575C=	NCBI36
NG_027717.1:g.11060G=
NG_050666.1:g.17663C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1391G= MANE Select	ENSP00000323511.2:p.Arg464=
ENST00000636840.1:c.59+102G=
ENST00000322344.7:c.1391G=	ENSP00000323511.2:p.Arg464=
ENST00000593946.5:c.*1318G=	ENSP00000468896.1:n.*1318G=
ENST00000594661.5:n.1892G=
ENST00000595081.5:n.294G=
ENST00000596014.5:c.1391G=	ENSP00000472300.1:p.Arg464=
ENST00000597965.2:c.98G=	ENSP00000471097.2:p.Arg33=
ENST00000599454.5:n.311G=
ENST00000600573.5:c.1298G=	ENSP00000469826.1:p.Arg433=
ENST00000600910.5:c.1281G=	ENSP00000473137.1:p.Ser427=
ENST00000601816.3:n.463G=
ENST00000625216.2:c.472G=	ENSP00000486898.1:n.472G=
ENST00000627232.2:c.1311G=	ENSP00000486037.1:n.1311G=
ENST00000631020.2:c.1283G=	ENSP00000486707.1:p.Arg428=
NM_007254.3:c.1391G=	NP_009185.2:p.Arg464=
NM_007254.4:c.1391G= MANE Select	NP_009185.2:p.Arg464=