Canonical Allele Identifier: CA2340622027

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861480G= , CM000681.2:g.49861480G=	GRCh38
NC_000019.9:g.50364737G= , CM000681.1:g.50364737G=	GRCh37
NC_000019.8:g.55056549G=	NCBI36
NG_027717.1:g.11086C=
NG_050666.1:g.17637G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1417C= MANE Select	ENSP00000323511.2:p.Pro473=
ENST00000636840.1:c.59+128C=
ENST00000640501.1:c.23C=
ENST00000322344.7:c.1417C=	ENSP00000323511.2:p.Pro473=
ENST00000593946.5:c.*1344C=	ENSP00000468896.1:n.*1344C=
ENST00000594661.5:n.1918C=
ENST00000595081.5:n.320C=
ENST00000596014.5:c.1417C=	ENSP00000472300.1:p.Pro473=
ENST00000597965.2:c.124C=	ENSP00000471097.2:p.Pro42=
ENST00000599454.5:n.337C=
ENST00000600573.5:c.1324C=	ENSP00000469826.1:p.Pro442=
ENST00000600910.5:c.1307C=	ENSP00000473137.1:p.Pro436=
ENST00000601816.3:n.489C=
ENST00000625216.2:c.498C=	ENSP00000486898.1:n.498C=
ENST00000627232.2:c.1337C=	ENSP00000486037.1:n.1337C=
ENST00000631020.2:c.1309C=	ENSP00000486707.1:p.Pro437=
NM_007254.3:c.1417C=	NP_009185.2:p.Pro473=
NM_007254.4:c.1417C= MANE Select	NP_009185.2:p.Pro473=