Canonical Allele Identifier: CA2340622037

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861489A= , CM000681.2:g.49861489A=	GRCh38
NC_000019.9:g.50364746A= , CM000681.1:g.50364746A=	GRCh37
NC_000019.8:g.55056558A=	NCBI36
NG_027717.1:g.11077T=
NG_050666.1:g.17646A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1408T= MANE Select	ENSP00000323511.2:p.Ser470=
ENST00000636840.1:c.59+119T=
ENST00000640501.1:c.14T=
ENST00000322344.7:c.1408T=	ENSP00000323511.2:p.Ser470=
ENST00000593946.5:c.*1335T=	ENSP00000468896.1:n.*1335T=
ENST00000594661.5:n.1909T=
ENST00000595081.5:n.311T=
ENST00000596014.5:c.1408T=	ENSP00000472300.1:p.Ser470=
ENST00000597965.2:c.115T=	ENSP00000471097.2:p.Ser39=
ENST00000599454.5:n.328T=
ENST00000600573.5:c.1315T=	ENSP00000469826.1:p.Ser439=
ENST00000600910.5:c.1298T=	ENSP00000473137.1:p.Leu433=
ENST00000601816.3:n.480T=
ENST00000625216.2:c.489T=	ENSP00000486898.1:n.489T=
ENST00000627232.2:c.1328T=	ENSP00000486037.1:n.1328T=
ENST00000631020.2:c.1300T=	ENSP00000486707.1:p.Ser434=
NM_007254.3:c.1408T=	NP_009185.2:p.Ser470=
NM_007254.4:c.1408T= MANE Select	NP_009185.2:p.Ser470=