Canonical Allele Identifier: CA309498676

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49865339C>G , CM000681.2:g.49865339C>G	GRCh38
NC_000019.9:g.50368596C>G , CM000681.1:g.50368596C>G	GRCh37
NC_000019.8:g.55060408C>G	NCBI36
NG_027717.1:g.7227G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.286G>C MANE Select	NP_009185.2:p.Val96Leu
ENST00000322344.8:c.286G>C MANE Select	ENSP00000323511.2:p.Val96Leu
NM_007254.3:c.286G>C	NP_009185.2:p.Val96Leu
ENST00000322344.7:c.286G>C	ENSP00000323511.2:p.Val96Leu
ENST00000593946.5:c.*213G>C	ENSP00000468896.1:n.*213G>C
ENST00000594661.5:n.700G>C
ENST00000596014.5:c.286G>C	ENSP00000472300.1:p.Val96Leu
ENST00000596726.3:c.286G>C	ENSP00000470887.2:p.Val96Leu
ENST00000598020.3:c.*213G>C	ENSP00000470346.1:n.*213G>C
ENST00000599543.3:c.286G>C	ENSP00000469848.2:p.Val96Leu
ENST00000600573.5:c.286G>C	ENSP00000469826.1:p.Val96Leu
ENST00000600910.5:c.286G>C	ENSP00000473137.1:p.Val96Leu
ENST00000625299.1:n.204G>C
ENST00000627232.2:c.286G>C	ENSP00000486037.1:p.Val96Leu
ENST00000627317.1:c.45G>C
ENST00000629179.1:n.183-936G>C
ENST00000631020.2:c.286G>C	ENSP00000486707.1:p.Val96Leu
ENST00000636214.1:c.199-97G>C	ENSP00000489983.1:n.199-97G>C