Canonical Allele Identifier: CA2340622856

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862413G= , CM000681.2:g.49862413G=	GRCh38
NC_000019.9:g.50365670G= , CM000681.1:g.50365670G=	GRCh37
NC_000019.8:g.55057482G=	NCBI36
NG_027717.1:g.10153C=
NG_050666.1:g.18570G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.987C= MANE Select	ENSP00000323511.2:p.Leu329=
ENST00000322344.7:c.987C=	ENSP00000323511.2:p.Leu329=
ENST00000593706.3:n.342C=
ENST00000593946.5:c.*914C=	ENSP00000468896.1:n.*914C=
ENST00000594661.5:n.1488C=
ENST00000596014.5:c.987C=	ENSP00000472300.1:p.Leu329=
ENST00000600573.5:c.936+125C=	ENSP00000469826.1:n.936+125C=
ENST00000600910.5:c.987C=	ENSP00000473137.1:p.Leu329=
ENST00000625216.2:c.165C=	ENSP00000486898.1:p.Leu55=
ENST00000627232.2:c.907C=	ENSP00000486037.1:n.907C=
ENST00000627317.1:c.608C=
ENST00000629179.1:n.758C=
ENST00000631020.2:c.879C=	ENSP00000486707.1:p.Leu293=
NM_007254.3:c.987C=	NP_009185.2:p.Leu329=
NM_007254.4:c.987C= MANE Select	NP_009185.2:p.Leu329=