Canonical Allele Identifier: CA2340622508

Gene: PNKP

Linked Data

• dbSNP Id: rs2074772288
• gnomAD v4: 19-49861966-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861966G>A , CM000681.2:g.49861966G>A	GRCh38
NC_000019.9:g.50365223G>A , CM000681.1:g.50365223G>A	GRCh37
NC_000019.8:g.55057035G>A	NCBI36
NG_027717.1:g.10600C>T
NG_050666.1:g.18123G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1188+78C>T MANE Select	ENSP00000323511.2:n.1188+78C>T
ENST00000322344.7:c.1188+78C>T	ENSP00000323511.2:n.1188+78C>T
ENST00000593706.3:n.700C>T
ENST00000593946.5:c.*1115+78C>T	ENSP00000468896.1:n.*1115+78C>T
ENST00000594661.5:n.1689+78C>T
ENST00000596014.5:c.1188+78C>T	ENSP00000472300.1:n.1188+78C>T
ENST00000599454.5:n.32+78C>T
ENST00000600573.5:c.1095+78C>T	ENSP00000469826.1:n.1095+78C>T
ENST00000600910.5:c.1188+78C>T	ENSP00000473137.1:n.1188+78C>T
ENST00000601816.3:n.87+78C>T
ENST00000625216.2:c.269+78C>T	ENSP00000486898.1:n.269+78C>T
ENST00000627232.2:c.1108+78C>T	ENSP00000486037.1:n.1108+78C>T
ENST00000631020.2:c.1080+78C>T	ENSP00000486707.1:n.1080+78C>T
NM_007254.3:c.1188+78C>T	NP_009185.2:n.1188+78C>T
NM_007254.4:c.1188+78C>T MANE Select	NP_009185.2:n.1188+78C>T