Canonical Allele Identifier: CA2340624187

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49864376G= , CM000681.2:g.49864376G=	GRCh38
NC_000019.9:g.50367633G= , CM000681.1:g.50367633G=	GRCh37
NC_000019.8:g.55059445G=	NCBI36
NG_027717.1:g.8190C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.526C= MANE Select	NP_009185.2:p.Leu176=
ENST00000322344.8:c.526C= MANE Select	ENSP00000323511.2:p.Leu176=
NM_007254.3:c.526C=	NP_009185.2:p.Leu176=
ENST00000322344.7:c.526C=	ENSP00000323511.2:p.Leu176=
ENST00000593946.5:c.*453C=	ENSP00000468896.1:n.*453C=
ENST00000594661.5:n.940C=
ENST00000596014.5:c.526C=	ENSP00000472300.1:p.Leu176=
ENST00000596726.3:c.526C=	ENSP00000470887.2:p.Leu176=
ENST00000599543.3:c.526C=	ENSP00000469848.2:p.Leu176=
ENST00000600573.5:c.526C=	ENSP00000469826.1:p.Leu176=
ENST00000600910.5:c.526C=	ENSP00000473137.1:p.Leu176=
ENST00000627232.2:c.499-140C=	ENSP00000486037.1:n.499-140C=
ENST00000627317.1:c.258-305C=
ENST00000629179.1:n.210C=
ENST00000631020.2:c.526C=	ENSP00000486707.1:p.Leu176=
ENST00000636214.1:c.*63C=	ENSP00000489983.1:n.*63C=