Canonical Allele Identifier: CA406881287

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862432G>C , CM000681.2:g.49862432G>C	GRCh38
NC_000019.9:g.50365689G>C , CM000681.1:g.50365689G>C	GRCh37
NC_000019.8:g.55057501G>C	NCBI36
NG_027717.1:g.10134C>G
NG_050666.1:g.18589G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.968C>G MANE Select	NP_009185.2:p.Thr323Arg
ENST00000322344.8:c.968C>G MANE Select	ENSP00000323511.2:p.Thr323Arg
NM_007254.3:c.968C>G	NP_009185.2:p.Thr323Arg
ENST00000322344.7:c.968C>G	ENSP00000323511.2:p.Thr323Arg
ENST00000593706.3:n.323C>G
ENST00000593946.5:c.*895C>G	ENSP00000468896.1:n.*895C>G
ENST00000594661.5:n.1469C>G
ENST00000596014.5:c.968C>G	ENSP00000472300.1:p.Thr323Arg
ENST00000600573.5:c.936+106C>G	ENSP00000469826.1:n.936+106C>G
ENST00000600910.5:c.968C>G	ENSP00000473137.1:p.Thr323Arg
ENST00000625216.2:c.146C>G	ENSP00000486898.1:p.Thr49Arg
ENST00000627232.2:c.888C>G	ENSP00000486037.1:n.888C>G
ENST00000627317.1:c.589C>G
ENST00000629179.1:n.739C>G
ENST00000631020.2:c.860C>G	ENSP00000486707.1:p.Thr287Arg