Canonical Allele Identifier: CA245334

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49865323G>A , CM000681.2:g.49865323G>A	GRCh38
NC_000019.9:g.50368580G>A , CM000681.1:g.50368580G>A	GRCh37
NC_000019.8:g.55060392G>A	NCBI36
NG_027717.1:g.7243C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.302C>T MANE Select	NP_009185.2:p.Pro101Leu
ENST00000322344.8:c.302C>T MANE Select	ENSP00000323511.2:p.Pro101Leu
NM_007254.3:c.302C>T	NP_009185.2:p.Pro101Leu
ENST00000322344.7:c.302C>T	ENSP00000323511.2:p.Pro101Leu
ENST00000593946.5:c.*229C>T	ENSP00000468896.1:n.*229C>T
ENST00000594661.5:n.716C>T
ENST00000596014.5:c.302C>T	ENSP00000472300.1:p.Pro101Leu
ENST00000596726.3:c.302C>T	ENSP00000470887.2:p.Pro101Leu
ENST00000598020.3:c.*229C>T	ENSP00000470346.1:n.*229C>T
ENST00000599543.3:c.302C>T	ENSP00000469848.2:p.Pro101Leu
ENST00000600573.5:c.302C>T	ENSP00000469826.1:p.Pro101Leu
ENST00000600910.5:c.302C>T	ENSP00000473137.1:p.Pro101Leu
ENST00000625299.1:n.220C>T
ENST00000627232.2:c.302C>T	ENSP00000486037.1:p.Pro101Leu
ENST00000627317.1:c.61C>T
ENST00000629179.1:n.183-920C>T
ENST00000631020.2:c.302C>T	ENSP00000486707.1:p.Pro101Leu
ENST00000636214.1:c.199-81C>T	ENSP00000489983.1:n.199-81C>T