Canonical Allele Identifier: CA316482

Gene: PNKP

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862369A>G , CM000681.2:g.49862369A>G	GRCh38
NC_000019.9:g.50365626A>G , CM000681.1:g.50365626A>G	GRCh37
NC_000019.8:g.55057438A>G	NCBI36
NG_027717.1:g.10197T>C
NG_050666.1:g.18526A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1029+2T>C MANE Select	ENSP00000323511.2:n.1029+2T>C
ENST00000322344.7:c.1029+2T>C	ENSP00000323511.2:n.1029+2T>C
ENST00000593706.3:n.384+2T>C
ENST00000593946.5:c.*956+2T>C	ENSP00000468896.1:n.*956+2T>C
ENST00000594661.5:n.1530+2T>C
ENST00000596014.5:c.1029+2T>C	ENSP00000472300.1:n.1029+2T>C
ENST00000600573.5:c.937-88T>C	ENSP00000469826.1:n.937-88T>C
ENST00000600910.5:c.1029+2T>C	ENSP00000473137.1:n.1029+2T>C
ENST00000625216.2:c.207+2T>C	ENSP00000486898.1:n.207+2T>C
ENST00000627232.2:c.949+2T>C	ENSP00000486037.1:n.949+2T>C
ENST00000627317.1:c.650+2T>C
ENST00000629179.1:n.800+2T>C
ENST00000631020.2:c.921+2T>C	ENSP00000486707.1:n.921+2T>C
NM_007254.3:c.1029+2T>C	NP_009185.2:n.1029+2T>C
NM_007254.4:c.1029+2T>C MANE Select	NP_009185.2:n.1029+2T>C