Canonical Allele Identifier: CA406932817

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364740T>A (hg19) ; chr19:g.49861483T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861483T>A , CM000681.2:g.49861483T>A	GRCh38
NC_000019.9:g.50364740T>A , CM000681.1:g.50364740T>A	GRCh37
NC_000019.8:g.55056552T>A	NCBI36
NG_027717.1:g.11083A>T
NG_050666.1:g.17640T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1414A>T MANE Select	ENSP00000323511.2:p.Ile472Phe
ENST00000636840.1:c.59+125A>T
ENST00000640501.1:c.20A>T
ENST00000322344.7:c.1414A>T	ENSP00000323511.2:p.Ile472Phe
ENST00000593946.5:c.*1341A>T	ENSP00000468896.1:n.*1341A>T
ENST00000594661.5:n.1915A>T
ENST00000595081.5:n.317A>T
ENST00000596014.5:c.1414A>T	ENSP00000472300.1:p.Ile472Phe
ENST00000597965.2:c.121A>T	ENSP00000471097.2:p.Ile41Phe
ENST00000599454.5:n.334A>T
ENST00000600573.5:c.1321A>T	ENSP00000469826.1:p.Ile441Phe
ENST00000600910.5:c.1304A>T	ENSP00000473137.1:p.Tyr435Phe
ENST00000601816.3:n.486A>T
ENST00000625216.2:c.495A>T	ENSP00000486898.1:n.495A>T
ENST00000627232.2:c.1334A>T	ENSP00000486037.1:n.1334A>T
ENST00000631020.2:c.1306A>T	ENSP00000486707.1:p.Ile436Phe
NM_007254.3:c.1414A>T	NP_009185.2:p.Ile472Phe
NM_007254.4:c.1414A>T MANE Select	NP_009185.2:p.Ile472Phe