Canonical Allele Identifier: CA406933651

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861872C>G , CM000681.2:g.49861872C>G	GRCh38
NC_000019.9:g.50365129C>G , CM000681.1:g.50365129C>G	GRCh37
NC_000019.8:g.55056941C>G	NCBI36
NG_027717.1:g.10694G>C
NG_050666.1:g.18029C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.1198G>C MANE Select	NP_009185.2:p.Gly400Arg
ENST00000322344.8:c.1198G>C MANE Select	ENSP00000323511.2:p.Gly400Arg
NM_007254.3:c.1198G>C	NP_009185.2:p.Gly400Arg
ENST00000322344.7:c.1198G>C	ENSP00000323511.2:p.Gly400Arg
ENST00000593706.3:n.794G>C
ENST00000593946.5:c.*1125G>C	ENSP00000468896.1:n.*1125G>C
ENST00000594661.5:n.1699G>C
ENST00000595081.5:n.25G>C
ENST00000596014.5:c.1198G>C	ENSP00000472300.1:p.Gly400Arg
ENST00000599454.5:n.42G>C
ENST00000600573.5:c.1105G>C	ENSP00000469826.1:p.Gly369Arg
ENST00000600910.5:c.1188+172G>C	ENSP00000473137.1:n.1188+172G>C
ENST00000601816.3:n.97G>C
ENST00000625216.2:c.279G>C	ENSP00000486898.1:n.279G>C
ENST00000627232.2:c.1118G>C	ENSP00000486037.1:n.1118G>C
ENST00000631020.2:c.1090G>C	ENSP00000486707.1:p.Gly364Arg