Canonical Allele Identifier: CA406893315

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49867054C>G , CM000681.2:g.49867054C>G	GRCh38
NC_000019.9:g.50370311C>G , CM000681.1:g.50370311C>G	GRCh37
NC_000019.8:g.55062123C>G	NCBI36
NG_027717.1:g.5512G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.151G>C MANE Select	NP_009185.2:p.Val51Leu
ENST00000322344.8:c.151G>C MANE Select	ENSP00000323511.2:p.Val51Leu
NM_007254.3:c.151G>C	NP_009185.2:p.Val51Leu
ENST00000322344.7:c.151G>C	ENSP00000323511.2:p.Val51Leu
ENST00000593946.5:c.151G>C	ENSP00000468896.1:p.Ala51Pro
ENST00000595792.1:n.257G>C
ENST00000596014.5:c.151G>C	ENSP00000472300.1:p.Val51Leu
ENST00000596726.3:c.151G>C	ENSP00000470887.2:p.Val51Leu
ENST00000598020.3:c.151G>C	ENSP00000470346.1:p.Ala51Pro
ENST00000599543.3:c.151G>C	ENSP00000469848.2:p.Val51Leu
ENST00000600573.5:c.151G>C	ENSP00000469826.1:p.Val51Leu
ENST00000600910.5:c.151G>C	ENSP00000473137.1:p.Val51Leu
ENST00000626274.2:n.260G>C
ENST00000627232.2:c.151G>C	ENSP00000486037.1:p.Val51Leu
ENST00000629088.1:n.205G>C
ENST00000629179.1:n.183-2651G>C
ENST00000631020.2:c.151G>C	ENSP00000486707.1:p.Val51Leu
ENST00000636214.1:c.151G>C	ENSP00000489983.1:p.Val51Leu