Canonical Allele Identifier: CA9586981

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49865361C>A , CM000681.2:g.49865361C>A	GRCh38
NC_000019.9:g.50368618C>A , CM000681.1:g.50368618C>A	GRCh37
NC_000019.8:g.55060430C>A	NCBI36
NG_027717.1:g.7205G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.264G>T MANE Select	NP_009185.2:p.Gly88=
ENST00000322344.8:c.264G>T MANE Select	ENSP00000323511.2:p.Gly88=
NM_007254.3:c.264G>T	NP_009185.2:p.Gly88=
ENST00000322344.7:c.264G>T	ENSP00000323511.2:p.Gly88=
ENST00000593946.5:c.*191G>T	ENSP00000468896.1:n.*191G>T
ENST00000594661.5:n.678G>T
ENST00000596014.5:c.264G>T	ENSP00000472300.1:p.Gly88=
ENST00000596726.3:c.264G>T	ENSP00000470887.2:p.Gly88=
ENST00000598020.3:c.*191G>T	ENSP00000470346.1:n.*191G>T
ENST00000599543.3:c.264G>T	ENSP00000469848.2:p.Gly88=
ENST00000600573.5:c.264G>T	ENSP00000469826.1:p.Gly88=
ENST00000600910.5:c.264G>T	ENSP00000473137.1:p.Gly88=
ENST00000625299.1:n.182G>T
ENST00000627232.2:c.264G>T	ENSP00000486037.1:p.Gly88=
ENST00000627317.1:c.23G>T
ENST00000629179.1:n.183-958G>T
ENST00000631020.2:c.264G>T	ENSP00000486707.1:p.Gly88=
ENST00000636214.1:c.199-119G>T	ENSP00000489983.1:n.199-119G>T