Canonical Allele Identifier: CA316478

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862397C>A , CM000681.2:g.49862397C>A	GRCh38
NC_000019.9:g.50365654C>A , CM000681.1:g.50365654C>A	GRCh37
NC_000019.8:g.55057466C>A	NCBI36
NG_027717.1:g.10169G>T
NG_050666.1:g.18554C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.1003G>T MANE Select	NP_009185.2:p.Gly335Cys
ENST00000322344.8:c.1003G>T MANE Select	ENSP00000323511.2:p.Gly335Cys
NM_007254.3:c.1003G>T	NP_009185.2:p.Gly335Cys
ENST00000322344.7:c.1003G>T	ENSP00000323511.2:p.Gly335Cys
ENST00000593706.3:n.358G>T
ENST00000593946.5:c.*930G>T	ENSP00000468896.1:n.*930G>T
ENST00000594661.5:n.1504G>T
ENST00000596014.5:c.1003G>T	ENSP00000472300.1:p.Gly335Cys
ENST00000600573.5:c.937-116G>T	ENSP00000469826.1:n.937-116G>T
ENST00000600910.5:c.1003G>T	ENSP00000473137.1:p.Gly335Cys
ENST00000625216.2:c.181G>T	ENSP00000486898.1:p.Gly61Cys
ENST00000627232.2:c.923G>T	ENSP00000486037.1:n.923G>T
ENST00000627317.1:c.624G>T
ENST00000629179.1:n.774G>T
ENST00000631020.2:c.895G>T	ENSP00000486707.1:p.Gly299Cys