Canonical Allele Identifier: CA2340622371

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861803T= , CM000681.2:g.49861803T=	GRCh38
NC_000019.9:g.50365060T= , CM000681.1:g.50365060T=	GRCh37
NC_000019.8:g.55056872T=	NCBI36
NG_027717.1:g.10763A=
NG_050666.1:g.17960T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1267A= MANE Select	ENSP00000323511.2:p.Asn423=
ENST00000322344.7:c.1267A=	ENSP00000323511.2:p.Asn423=
ENST00000593946.5:c.*1194A=	ENSP00000468896.1:n.*1194A=
ENST00000594661.5:n.1768A=
ENST00000595081.5:n.94A=
ENST00000596014.5:c.1267A=	ENSP00000472300.1:p.Asn423=
ENST00000599454.5:n.111A=
ENST00000600573.5:c.1174A=	ENSP00000469826.1:p.Asn392=
ENST00000600910.5:c.1189-108A=	ENSP00000473137.1:n.1189-108A=
ENST00000601816.3:n.166A=
ENST00000625216.2:c.348A=	ENSP00000486898.1:n.348A=
ENST00000627232.2:c.1187A=	ENSP00000486037.1:n.1187A=
ENST00000631020.2:c.1159A=	ENSP00000486707.1:p.Asn387=
NM_007254.3:c.1267A=	NP_009185.2:p.Asn423=
NM_007254.4:c.1267A= MANE Select	NP_009185.2:p.Asn423=