Canonical Allele Identifier: CA295146

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861257G>A , CM000681.2:g.49861257G>A	GRCh38
NC_000019.9:g.50364514G>A , CM000681.1:g.50364514G>A	GRCh37
NC_000019.8:g.55056326G>A	NCBI36
NG_027717.1:g.11309C>T
NG_050666.1:g.17414G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.1557C>T MANE Select	NP_009185.2:p.Ser519=
ENST00000322344.8:c.1557C>T MANE Select	ENSP00000323511.2:p.Ser519=
NM_007254.3:c.1557C>T	NP_009185.2:p.Ser519=
ENST00000322344.7:c.1557C>T	ENSP00000323511.2:p.Ser519=
ENST00000593946.5:c.*1484C>T	ENSP00000468896.1:n.*1484C>T
ENST00000594661.5:n.2058C>T
ENST00000595081.5:n.460C>T
ENST00000596014.5:c.1557C>T	ENSP00000472300.1:p.Ser519=
ENST00000597965.2:c.347C>T	ENSP00000471097.2:n.347C>T
ENST00000599454.5:n.477C>T
ENST00000600573.5:c.1464C>T	ENSP00000469826.1:p.Ser488=
ENST00000600910.5:c.*79C>T	ENSP00000473137.1:n.*79C>T
ENST00000601816.3:n.629C>T
ENST00000627232.2:c.1477C>T	ENSP00000486037.1:n.1477C>T
ENST00000631020.2:c.1449C>T	ENSP00000486707.1:p.Ser483=
ENST00000636840.1:c.59+351C>T