Canonical Allele Identifier: CA209423

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49864188C>T , CM000681.2:g.49864188C>T	GRCh38
NC_000019.9:g.50367445C>T , CM000681.1:g.50367445C>T	GRCh37
NC_000019.8:g.55059257C>T	NCBI36
NG_027717.1:g.8378G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.627G>A MANE Select	NP_009185.2:p.Glu209=
ENST00000322344.8:c.627G>A MANE Select	ENSP00000323511.2:p.Glu209=
NM_007254.3:c.627G>A	NP_009185.2:p.Glu209=
ENST00000322344.7:c.627G>A	ENSP00000323511.2:p.Glu209=
ENST00000593946.5:c.*554G>A	ENSP00000468896.1:n.*554G>A
ENST00000594661.5:n.1128G>A
ENST00000596014.5:c.627G>A	ENSP00000472300.1:p.Glu209=
ENST00000599543.3:c.627G>A	ENSP00000469848.2:p.Glu209=
ENST00000600573.5:c.627G>A	ENSP00000469826.1:p.Glu209=
ENST00000600910.5:c.627G>A	ENSP00000473137.1:p.Glu209=
ENST00000627232.2:c.547G>A	ENSP00000486037.1:n.547G>A
ENST00000627317.1:c.258-117G>A
ENST00000629179.1:n.398G>A
ENST00000631020.2:c.627G>A	ENSP00000486707.1:p.Glu209=
ENST00000636214.1:c.*164G>A	ENSP00000489983.1:n.*164G>A