Canonical Allele Identifier: CA3233714367

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861819T= , CM000681.2:g.49861819T=	GRCh38
NC_000019.9:g.50365076T= , CM000681.1:g.50365076T=	GRCh37
NC_000019.8:g.55056888T=	NCBI36
NG_027717.1:g.10747A=
NG_050666.1:g.17976T=

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.1251A= MANE Select	NP_009185.2:p.Lys417=
ENST00000322344.8:c.1251A= MANE Select	ENSP00000323511.2:p.Lys417=
NM_007254.3:c.1251A=	NP_009185.2:p.Lys417=
ENST00000322344.7:c.1251A=	ENSP00000323511.2:p.Lys417=
ENST00000593706.3:n.847A=
ENST00000593946.5:c.*1178A=	ENSP00000468896.1:n.*1178A=
ENST00000594661.5:n.1752A=
ENST00000595081.5:n.78A=
ENST00000596014.5:c.1251A=	ENSP00000472300.1:p.Lys417=
ENST00000599454.5:n.95A=
ENST00000600573.5:c.1158A=	ENSP00000469826.1:p.Lys386=
ENST00000600910.5:c.1189-124A=	ENSP00000473137.1:n.1189-124A=
ENST00000601816.3:n.150A=
ENST00000625216.2:c.332A=	ENSP00000486898.1:n.332A=
ENST00000627232.2:c.1171A=	ENSP00000486037.1:n.1171A=
ENST00000631020.2:c.1143A=	ENSP00000486707.1:p.Lys381=