Canonical Allele Identifier: CA2340622028

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861481G= , CM000681.2:g.49861481G=	GRCh38
NC_000019.9:g.50364738G= , CM000681.1:g.50364738G=	GRCh37
NC_000019.8:g.55056550G=	NCBI36
NG_027717.1:g.11085C=
NG_050666.1:g.17638G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1416C= MANE Select	ENSP00000323511.2:p.Ile472=
ENST00000636840.1:c.59+127C=
ENST00000640501.1:c.22C=
ENST00000322344.7:c.1416C=	ENSP00000323511.2:p.Ile472=
ENST00000593946.5:c.*1343C=	ENSP00000468896.1:n.*1343C=
ENST00000594661.5:n.1917C=
ENST00000595081.5:n.319C=
ENST00000596014.5:c.1416C=	ENSP00000472300.1:p.Ile472=
ENST00000597965.2:c.123C=	ENSP00000471097.2:p.Ile41=
ENST00000599454.5:n.336C=
ENST00000600573.5:c.1323C=	ENSP00000469826.1:p.Ile441=
ENST00000600910.5:c.1306C=	ENSP00000473137.1:p.Pro436=
ENST00000601816.3:n.488C=
ENST00000625216.2:c.497C=	ENSP00000486898.1:n.497C=
ENST00000627232.2:c.1336C=	ENSP00000486037.1:n.1336C=
ENST00000631020.2:c.1308C=	ENSP00000486707.1:p.Ile436=
NM_007254.3:c.1416C=	NP_009185.2:p.Ile472=
NM_007254.4:c.1416C= MANE Select	NP_009185.2:p.Ile472=