Canonical Allele Identifier: CA2340622407

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861851T= , CM000681.2:g.49861851T=	GRCh38
NC_000019.9:g.50365108T= , CM000681.1:g.50365108T=	GRCh37
NC_000019.8:g.55056920T=	NCBI36
NG_027717.1:g.10715A=
NG_050666.1:g.18008T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1219A= MANE Select	ENSP00000323511.2:p.Thr407=
ENST00000322344.7:c.1219A=	ENSP00000323511.2:p.Thr407=
ENST00000593706.3:n.815A=
ENST00000593946.5:c.*1146A=	ENSP00000468896.1:n.*1146A=
ENST00000594661.5:n.1720A=
ENST00000595081.5:n.46A=
ENST00000596014.5:c.1219A=	ENSP00000472300.1:p.Thr407=
ENST00000599454.5:n.63A=
ENST00000600573.5:c.1126A=	ENSP00000469826.1:p.Thr376=
ENST00000600910.5:c.1189-156A=	ENSP00000473137.1:n.1189-156A=
ENST00000601816.3:n.118A=
ENST00000625216.2:c.300A=	ENSP00000486898.1:n.300A=
ENST00000627232.2:c.1139A=	ENSP00000486037.1:n.1139A=
ENST00000631020.2:c.1111A=	ENSP00000486707.1:p.Thr371=
NM_007254.3:c.1219A=	NP_009185.2:p.Thr407=
NM_007254.4:c.1219A= MANE Select	NP_009185.2:p.Thr407=