Canonical Allele Identifier: CA2340622001

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861453A= , CM000681.2:g.49861453A=	GRCh38
NC_000019.9:g.50364710A= , CM000681.1:g.50364710A=	GRCh37
NC_000019.8:g.55056522A=	NCBI36
NG_027717.1:g.11113T=
NG_050666.1:g.17610A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1444T= MANE Select	ENSP00000323511.2:p.Tyr482=
ENST00000636840.1:c.59+155T=
ENST00000640501.1:c.50T=
ENST00000322344.7:c.1444T=	ENSP00000323511.2:p.Tyr482=
ENST00000593946.5:c.*1371T=	ENSP00000468896.1:n.*1371T=
ENST00000594661.5:n.1945T=
ENST00000595081.5:n.347T=
ENST00000596014.5:c.1444T=	ENSP00000472300.1:p.Tyr482=
ENST00000597965.2:c.151T=	ENSP00000471097.2:p.Tyr51=
ENST00000599454.5:n.364T=
ENST00000600573.5:c.1351T=	ENSP00000469826.1:p.Tyr451=
ENST00000600910.5:c.1334T=	ENSP00000473137.1:p.Leu445=
ENST00000601816.3:n.516T=
ENST00000625216.2:c.525T=	ENSP00000486898.1:n.525T=
ENST00000627232.2:c.1364T=	ENSP00000486037.1:n.1364T=
ENST00000631020.2:c.1336T=	ENSP00000486707.1:p.Tyr446=
NM_007254.3:c.1444T=	NP_009185.2:p.Tyr482=
NM_007254.4:c.1444T= MANE Select	NP_009185.2:p.Tyr482=