Canonical Allele Identifier: CA9586663

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862391C>G , CM000681.2:g.49862391C>G	GRCh38
NC_000019.9:g.50365648C>G , CM000681.1:g.50365648C>G	GRCh37
NC_000019.8:g.55057460C>G	NCBI36
NG_027717.1:g.10175G>C
NG_050666.1:g.18548C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.1009G>C MANE Select	NP_009185.2:p.Glu337Gln
ENST00000322344.8:c.1009G>C MANE Select	ENSP00000323511.2:p.Glu337Gln
NM_007254.3:c.1009G>C	NP_009185.2:p.Glu337Gln
ENST00000322344.7:c.1009G>C	ENSP00000323511.2:p.Glu337Gln
ENST00000593706.3:n.364G>C
ENST00000593946.5:c.*936G>C	ENSP00000468896.1:n.*936G>C
ENST00000594661.5:n.1510G>C
ENST00000596014.5:c.1009G>C	ENSP00000472300.1:p.Glu337Gln
ENST00000600573.5:c.937-110G>C	ENSP00000469826.1:n.937-110G>C
ENST00000600910.5:c.1009G>C	ENSP00000473137.1:p.Glu337Gln
ENST00000625216.2:c.187G>C	ENSP00000486898.1:p.Glu63Gln
ENST00000627232.2:c.929G>C	ENSP00000486037.1:n.929G>C
ENST00000627317.1:c.630G>C
ENST00000629179.1:n.780G>C
ENST00000631020.2:c.901G>C	ENSP00000486707.1:p.Glu301Gln