Canonical Allele Identifier: CA406933341

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365028C>G (hg19) ; chr19:g.49861771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861771C>G , CM000681.2:g.49861771C>G	GRCh38
NC_000019.9:g.50365028C>G , CM000681.1:g.50365028C>G	GRCh37
NC_000019.8:g.55056840C>G	NCBI36
NG_027717.1:g.10795G>C
NG_050666.1:g.17928C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1298+1G>C MANE Select	ENSP00000323511.2:n.1298+1G>C
ENST00000322344.7:c.1298+1G>C	ENSP00000323511.2:n.1298+1G>C
ENST00000593946.5:c.*1225+1G>C	ENSP00000468896.1:n.*1225+1G>C
ENST00000594661.5:n.1799+1G>C
ENST00000595081.5:n.126G>C
ENST00000596014.5:c.1298+1G>C	ENSP00000472300.1:n.1298+1G>C
ENST00000597965.2:c.5+1G>C	ENSP00000471097.2:n.5+1G>C
ENST00000599454.5:n.143G>C
ENST00000600573.5:c.1205+1G>C	ENSP00000469826.1:n.1205+1G>C
ENST00000600910.5:c.1189-76G>C	ENSP00000473137.1:n.1189-76G>C
ENST00000601816.3:n.198G>C
ENST00000625216.2:c.379+1G>C	ENSP00000486898.1:n.379+1G>C
ENST00000627232.2:c.1218+1G>C	ENSP00000486037.1:n.1218+1G>C
ENST00000631020.2:c.1190+1G>C	ENSP00000486707.1:n.1190+1G>C
NM_007254.3:c.1298+1G>C	NP_009185.2:n.1298+1G>C
NM_007254.4:c.1298+1G>C MANE Select	NP_009185.2:n.1298+1G>C