Canonical Allele Identifier: CA2340622021

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861475C= , CM000681.2:g.49861475C=	GRCh38
NC_000019.9:g.50364732C= , CM000681.1:g.50364732C=	GRCh37
NC_000019.8:g.55056544C=	NCBI36
NG_027717.1:g.11091G=
NG_050666.1:g.17632C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1422G= MANE Select	ENSP00000323511.2:p.Val474=
ENST00000636840.1:c.59+133G=
ENST00000640501.1:c.28G=
ENST00000322344.7:c.1422G=	ENSP00000323511.2:p.Val474=
ENST00000593946.5:c.*1349G=	ENSP00000468896.1:n.*1349G=
ENST00000594661.5:n.1923G=
ENST00000595081.5:n.325G=
ENST00000596014.5:c.1422G=	ENSP00000472300.1:p.Val474=
ENST00000597965.2:c.129G=	ENSP00000471097.2:p.Val43=
ENST00000599454.5:n.342G=
ENST00000600573.5:c.1329G=	ENSP00000469826.1:p.Val443=
ENST00000600910.5:c.1312G=	ENSP00000473137.1:p.Val438=
ENST00000601816.3:n.494G=
ENST00000625216.2:c.503G=	ENSP00000486898.1:n.503G=
ENST00000627232.2:c.1342G=	ENSP00000486037.1:n.1342G=
ENST00000631020.2:c.1314G=	ENSP00000486707.1:p.Val438=
NM_007254.3:c.1422G=	NP_009185.2:p.Val474=
NM_007254.4:c.1422G= MANE Select	NP_009185.2:p.Val474=