Canonical Allele Identifier: CA406932785

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364731A>T (hg19) ; chr19:g.49861474A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861474A>T , CM000681.2:g.49861474A>T	GRCh38
NC_000019.9:g.50364731A>T , CM000681.1:g.50364731A>T	GRCh37
NC_000019.8:g.55056543A>T	NCBI36
NG_027717.1:g.11092T>A
NG_050666.1:g.17631A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1423T>A MANE Select	ENSP00000323511.2:p.Ser475Thr
ENST00000636840.1:c.59+134T>A
ENST00000640501.1:c.29T>A
ENST00000322344.7:c.1423T>A	ENSP00000323511.2:p.Ser475Thr
ENST00000593946.5:c.*1350T>A	ENSP00000468896.1:n.*1350T>A
ENST00000594661.5:n.1924T>A
ENST00000595081.5:n.326T>A
ENST00000596014.5:c.1423T>A	ENSP00000472300.1:p.Ser475Thr
ENST00000597965.2:c.130T>A	ENSP00000471097.2:p.Ser44Thr
ENST00000599454.5:n.343T>A
ENST00000600573.5:c.1330T>A	ENSP00000469826.1:p.Ser444Thr
ENST00000600910.5:c.1313T>A	ENSP00000473137.1:p.Val438Asp
ENST00000601816.3:n.495T>A
ENST00000625216.2:c.504T>A	ENSP00000486898.1:n.504T>A
ENST00000627232.2:c.1343T>A	ENSP00000486037.1:n.1343T>A
ENST00000631020.2:c.1315T>A	ENSP00000486707.1:p.Ser439Thr
NM_007254.3:c.1423T>A	NP_009185.2:p.Ser475Thr
NM_007254.4:c.1423T>A MANE Select	NP_009185.2:p.Ser475Thr