Canonical Allele Identifier: CA2340622220

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861675G= , CM000681.2:g.49861675G=	GRCh38
NC_000019.9:g.50364932G= , CM000681.1:g.50364932G=	GRCh37
NC_000019.8:g.55056744G=	NCBI36
NG_027717.1:g.10891C=
NG_050666.1:g.17832G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1319C= MANE Select	ENSP00000323511.2:p.Ala440=
ENST00000322344.7:c.1319C=	ENSP00000323511.2:p.Ala440=
ENST00000593946.5:c.*1246C=	ENSP00000468896.1:n.*1246C=
ENST00000594661.5:n.1820C=
ENST00000595081.5:n.222C=
ENST00000596014.5:c.1319C=	ENSP00000472300.1:p.Ala440=
ENST00000597965.2:c.26C=	ENSP00000471097.2:p.Ala9=
ENST00000599454.5:n.239C=
ENST00000600573.5:c.1226C=	ENSP00000469826.1:p.Ala409=
ENST00000600910.5:c.1209C=	ENSP00000473137.1:p.Ser403=
ENST00000601816.3:n.294C=
ENST00000625216.2:c.400C=	ENSP00000486898.1:n.400C=
ENST00000627232.2:c.1239C=	ENSP00000486037.1:n.1239C=
ENST00000631020.2:c.1211C=	ENSP00000486707.1:p.Ala404=
NM_007254.3:c.1319C=	NP_009185.2:p.Ala440=
NM_007254.4:c.1319C= MANE Select	NP_009185.2:p.Ala440=