Canonical Allele Identifier: CA246726

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49864190C>T , CM000681.2:g.49864190C>T	GRCh38
NC_000019.9:g.50367447C>T , CM000681.1:g.50367447C>T	GRCh37
NC_000019.8:g.55059259C>T	NCBI36
NG_027717.1:g.8376G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.625G>A MANE Select	NP_009185.2:p.Glu209Lys
ENST00000322344.8:c.625G>A MANE Select	ENSP00000323511.2:p.Glu209Lys
NM_007254.3:c.625G>A	NP_009185.2:p.Glu209Lys
ENST00000322344.7:c.625G>A	ENSP00000323511.2:p.Glu209Lys
ENST00000593946.5:c.*552G>A	ENSP00000468896.1:n.*552G>A
ENST00000594661.5:n.1126G>A
ENST00000596014.5:c.625G>A	ENSP00000472300.1:p.Glu209Lys
ENST00000599543.3:c.625G>A	ENSP00000469848.2:p.Glu209Lys
ENST00000600573.5:c.625G>A	ENSP00000469826.1:p.Glu209Lys
ENST00000600910.5:c.625G>A	ENSP00000473137.1:p.Glu209Lys
ENST00000627232.2:c.545G>A	ENSP00000486037.1:n.545G>A
ENST00000627317.1:c.258-119G>A
ENST00000629179.1:n.396G>A
ENST00000631020.2:c.625G>A	ENSP00000486707.1:p.Glu209Lys
ENST00000636214.1:c.*162G>A	ENSP00000489983.1:n.*162G>A