Canonical Allele Identifier: CA406932900

Gene: PNKP

Linked Data

• COSMIC: COSM475054 ; COSM475055
• MyVariant Identifiers: chr19:g.50364761C>G (hg19) ; chr19:g.49861504C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861504C>G , CM000681.2:g.49861504C>G	GRCh38
NC_000019.9:g.50364761C>G , CM000681.1:g.50364761C>G	GRCh37
NC_000019.8:g.55056573C>G	NCBI36
NG_027717.1:g.11062G>C
NG_050666.1:g.17661C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1393G>C MANE Select	ENSP00000323511.2:p.Glu465Gln
ENST00000636840.1:c.59+104G>C
ENST00000322344.7:c.1393G>C	ENSP00000323511.2:p.Glu465Gln
ENST00000593946.5:c.*1320G>C	ENSP00000468896.1:n.*1320G>C
ENST00000594661.5:n.1894G>C
ENST00000595081.5:n.296G>C
ENST00000596014.5:c.1393G>C	ENSP00000472300.1:p.Glu465Gln
ENST00000597965.2:c.100G>C	ENSP00000471097.2:p.Glu34Gln
ENST00000599454.5:n.313G>C
ENST00000600573.5:c.1300G>C	ENSP00000469826.1:p.Glu434Gln
ENST00000600910.5:c.1283G>C	ENSP00000473137.1:p.Arg428Thr
ENST00000601816.3:n.465G>C
ENST00000625216.2:c.474G>C	ENSP00000486898.1:n.474G>C
ENST00000627232.2:c.1313G>C	ENSP00000486037.1:n.1313G>C
ENST00000631020.2:c.1285G>C	ENSP00000486707.1:p.Glu429Gln
NM_007254.3:c.1393G>C	NP_009185.2:p.Glu465Gln
NM_007254.4:c.1393G>C MANE Select	NP_009185.2:p.Glu465Gln