Canonical Allele Identifier: CA2340622346

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861788C= , CM000681.2:g.49861788C=	GRCh38
NC_000019.9:g.50365045C= , CM000681.1:g.50365045C=	GRCh37
NC_000019.8:g.55056857C=	NCBI36
NG_027717.1:g.10778G=
NG_050666.1:g.17945C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1282G= MANE Select	ENSP00000323511.2:p.Ala428=
ENST00000322344.7:c.1282G=	ENSP00000323511.2:p.Ala428=
ENST00000593946.5:c.*1209G=	ENSP00000468896.1:n.*1209G=
ENST00000594661.5:n.1783G=
ENST00000595081.5:n.109G=
ENST00000596014.5:c.1282G=	ENSP00000472300.1:p.Ala428=
ENST00000599454.5:n.126G=
ENST00000600573.5:c.1189G=	ENSP00000469826.1:p.Ala397=
ENST00000600910.5:c.1189-93G=	ENSP00000473137.1:n.1189-93G=
ENST00000601816.3:n.181G=
ENST00000625216.2:c.363G=	ENSP00000486898.1:n.363G=
ENST00000627232.2:c.1202G=	ENSP00000486037.1:n.1202G=
ENST00000631020.2:c.1174G=	ENSP00000486707.1:p.Ala392=
NM_007254.3:c.1282G=	NP_009185.2:p.Ala428=
NM_007254.4:c.1282G= MANE Select	NP_009185.2:p.Ala428=