Canonical Allele Identifier: CA2340622358

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861780G= , CM000681.2:g.49861780G=	GRCh38
NC_000019.9:g.50365037G= , CM000681.1:g.50365037G=	GRCh37
NC_000019.8:g.55056849G=	NCBI36
NG_027717.1:g.10786C=
NG_050666.1:g.17937G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1290C= MANE Select	ENSP00000323511.2:p.Ser430=
ENST00000322344.7:c.1290C=	ENSP00000323511.2:p.Ser430=
ENST00000593946.5:c.*1217C=	ENSP00000468896.1:n.*1217C=
ENST00000594661.5:n.1791C=
ENST00000595081.5:n.117C=
ENST00000596014.5:c.1290C=	ENSP00000472300.1:p.Ser430=
ENST00000599454.5:n.134C=
ENST00000600573.5:c.1197C=	ENSP00000469826.1:p.Ser399=
ENST00000600910.5:c.1189-85C=	ENSP00000473137.1:n.1189-85C=
ENST00000601816.3:n.189C=
ENST00000625216.2:c.371C=	ENSP00000486898.1:n.371C=
ENST00000627232.2:c.1210C=	ENSP00000486037.1:n.1210C=
ENST00000631020.2:c.1182C=	ENSP00000486707.1:p.Ser394=
NM_007254.3:c.1290C=	NP_009185.2:p.Ser430=
NM_007254.4:c.1290C= MANE Select	NP_009185.2:p.Ser430=