Canonical Allele Identifier: CA2340622004

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861456C= , CM000681.2:g.49861456C=	GRCh38
NC_000019.9:g.50364713C= , CM000681.1:g.50364713C=	GRCh37
NC_000019.8:g.55056525C=	NCBI36
NG_027717.1:g.11110G=
NG_050666.1:g.17613C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1441G= MANE Select	ENSP00000323511.2:p.Gly481=
ENST00000636840.1:c.59+152G=
ENST00000640501.1:c.47G=
ENST00000322344.7:c.1441G=	ENSP00000323511.2:p.Gly481=
ENST00000593946.5:c.*1368G=	ENSP00000468896.1:n.*1368G=
ENST00000594661.5:n.1942G=
ENST00000595081.5:n.344G=
ENST00000596014.5:c.1441G=	ENSP00000472300.1:p.Gly481=
ENST00000597965.2:c.148G=	ENSP00000471097.2:p.Gly50=
ENST00000599454.5:n.361G=
ENST00000600573.5:c.1348G=	ENSP00000469826.1:p.Gly450=
ENST00000600910.5:c.1331G=	ENSP00000473137.1:p.Trp444=
ENST00000601816.3:n.513G=
ENST00000625216.2:c.522G=	ENSP00000486898.1:n.522G=
ENST00000627232.2:c.1361G=	ENSP00000486037.1:n.1361G=
ENST00000631020.2:c.1333G=	ENSP00000486707.1:p.Gly445=
NM_007254.3:c.1441G=	NP_009185.2:p.Gly481=
NM_007254.4:c.1441G= MANE Select	NP_009185.2:p.Gly481=