Canonical Allele Identifier: CA251158

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49864042G>A , CM000681.2:g.49864042G>A	GRCh38
NC_000019.9:g.50367299G>A , CM000681.1:g.50367299G>A	GRCh37
NC_000019.8:g.55059111G>A	NCBI36
NG_027717.1:g.8524C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.666C>T MANE Select	NP_009185.2:p.Ile222=
ENST00000322344.8:c.666C>T MANE Select	ENSP00000323511.2:p.Ile222=
NM_007254.3:c.666C>T	NP_009185.2:p.Ile222=
ENST00000322344.7:c.666C>T	ENSP00000323511.2:p.Ile222=
ENST00000593706.3:n.21C>T
ENST00000593946.5:c.*593C>T	ENSP00000468896.1:n.*593C>T
ENST00000594661.5:n.1167C>T
ENST00000596014.5:c.666C>T	ENSP00000472300.1:p.Ile222=
ENST00000599543.3:c.666C>T	ENSP00000469848.2:p.Ile222=
ENST00000600573.5:c.666C>T	ENSP00000469826.1:p.Ile222=
ENST00000600910.5:c.666C>T	ENSP00000473137.1:p.Ile222=
ENST00000627232.2:c.586C>T	ENSP00000486037.1:n.586C>T
ENST00000627317.1:c.287C>T
ENST00000629179.1:n.437C>T
ENST00000631020.2:c.636+137C>T	ENSP00000486707.1:n.636+137C>T
ENST00000636214.1:c.*203C>T	ENSP00000489983.1:n.*203C>T