Canonical Allele Identifier: CA2340622018

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861473G= , CM000681.2:g.49861473G=	GRCh38
NC_000019.9:g.50364730G= , CM000681.1:g.50364730G=	GRCh37
NC_000019.8:g.55056542G=	NCBI36
NG_027717.1:g.11093C=
NG_050666.1:g.17630G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1424C= MANE Select	ENSP00000323511.2:p.Ser475=
ENST00000636840.1:c.59+135C=
ENST00000640501.1:c.30C=
ENST00000322344.7:c.1424C=	ENSP00000323511.2:p.Ser475=
ENST00000593946.5:c.*1351C=	ENSP00000468896.1:n.*1351C=
ENST00000594661.5:n.1925C=
ENST00000595081.5:n.327C=
ENST00000596014.5:c.1424C=	ENSP00000472300.1:p.Ser475=
ENST00000597965.2:c.131C=	ENSP00000471097.2:p.Ser44=
ENST00000599454.5:n.344C=
ENST00000600573.5:c.1331C=	ENSP00000469826.1:p.Ser444=
ENST00000600910.5:c.1314C=	ENSP00000473137.1:p.Val438=
ENST00000601816.3:n.496C=
ENST00000625216.2:c.505C=	ENSP00000486898.1:n.505C=
ENST00000627232.2:c.1344C=	ENSP00000486037.1:n.1344C=
ENST00000631020.2:c.1316C=	ENSP00000486707.1:p.Ser439=
NM_007254.3:c.1424C=	NP_009185.2:p.Ser475=
NM_007254.4:c.1424C= MANE Select	NP_009185.2:p.Ser475=