Canonical Allele Identifier: CA406881225

Gene: PNKP

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862424C>A , CM000681.2:g.49862424C>A	GRCh38
NC_000019.9:g.50365681C>A , CM000681.1:g.50365681C>A	GRCh37
NC_000019.8:g.55057493C>A	NCBI36
NG_027717.1:g.10142G>T
NG_050666.1:g.18581C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.976G>T MANE Select	ENSP00000323511.2:p.Glu326Ter
ENST00000322344.7:c.976G>T	ENSP00000323511.2:p.Glu326Ter
ENST00000593706.3:n.331G>T
ENST00000593946.5:c.*903G>T	ENSP00000468896.1:n.*903G>T
ENST00000594661.5:n.1477G>T
ENST00000596014.5:c.976G>T	ENSP00000472300.1:p.Glu326Ter
ENST00000600573.5:c.936+114G>T	ENSP00000469826.1:n.936+114G>T
ENST00000600910.5:c.976G>T	ENSP00000473137.1:p.Glu326Ter
ENST00000625216.2:c.154G>T	ENSP00000486898.1:p.Glu52Ter
ENST00000627232.2:c.896G>T	ENSP00000486037.1:n.896G>T
ENST00000627317.1:c.597G>T
ENST00000629179.1:n.747G>T
ENST00000631020.2:c.868G>T	ENSP00000486707.1:p.Glu290Ter
NM_007254.3:c.976G>T	NP_009185.2:p.Glu326Ter
NM_007254.4:c.976G>T MANE Select	NP_009185.2:p.Glu326Ter