Canonical Allele Identifier: CA2340622343

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861777G= , CM000681.2:g.49861777G=	GRCh38
NC_000019.9:g.50365034G= , CM000681.1:g.50365034G=	GRCh37
NC_000019.8:g.55056846G=	NCBI36
NG_027717.1:g.10789C=
NG_050666.1:g.17934G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1293C= MANE Select	ENSP00000323511.2:p.Arg431=
ENST00000322344.7:c.1293C=	ENSP00000323511.2:p.Arg431=
ENST00000593946.5:c.*1220C=	ENSP00000468896.1:n.*1220C=
ENST00000594661.5:n.1794C=
ENST00000595081.5:n.120C=
ENST00000596014.5:c.1293C=	ENSP00000472300.1:p.Arg431=
ENST00000599454.5:n.137C=
ENST00000600573.5:c.1200C=	ENSP00000469826.1:p.Arg400=
ENST00000600910.5:c.1189-82C=	ENSP00000473137.1:n.1189-82C=
ENST00000601816.3:n.192C=
ENST00000625216.2:c.374C=	ENSP00000486898.1:n.374C=
ENST00000627232.2:c.1213C=	ENSP00000486037.1:n.1213C=
ENST00000631020.2:c.1185C=	ENSP00000486707.1:p.Arg395=
NM_007254.3:c.1293C=	NP_009185.2:p.Arg431=
NM_007254.4:c.1293C= MANE Select	NP_009185.2:p.Arg431=