Canonical Allele Identifier: CA2340622417

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861863G= , CM000681.2:g.49861863G=	GRCh38
NC_000019.9:g.50365120G= , CM000681.1:g.50365120G=	GRCh37
NC_000019.8:g.55056932G=	NCBI36
NG_027717.1:g.10703C=
NG_050666.1:g.18020G=

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.1207C= MANE Select	NP_009185.2:p.Gln403=
ENST00000322344.8:c.1207C= MANE Select	ENSP00000323511.2:p.Gln403=
NM_007254.3:c.1207C=	NP_009185.2:p.Gln403=
ENST00000322344.7:c.1207C=	ENSP00000323511.2:p.Gln403=
ENST00000593706.3:n.803C=
ENST00000593946.5:c.*1134C=	ENSP00000468896.1:n.*1134C=
ENST00000594661.5:n.1708C=
ENST00000595081.5:n.34C=
ENST00000596014.5:c.1207C=	ENSP00000472300.1:p.Gln403=
ENST00000599454.5:n.51C=
ENST00000600573.5:c.1114C=	ENSP00000469826.1:p.Gln372=
ENST00000600910.5:c.1189-168C=	ENSP00000473137.1:n.1189-168C=
ENST00000601816.3:n.106C=
ENST00000625216.2:c.288C=	ENSP00000486898.1:n.288C=
ENST00000627232.2:c.1127C=	ENSP00000486037.1:n.1127C=
ENST00000631020.2:c.1099C=	ENSP00000486707.1:p.Gln367=