Canonical Allele Identifier: CA406932715

Gene: PNKP

Linked Data

• dbSNP Id: rs1264212147
• gnomAD v2: 19-50364712-C-T
• gnomAD v4: 19-49861455-C-T
• MyVariant Identifiers: chr19:g.50364712C>T (hg19) ; chr19:g.49861455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861455C>T , CM000681.2:g.49861455C>T	GRCh38
NC_000019.9:g.50364712C>T , CM000681.1:g.50364712C>T	GRCh37
NC_000019.8:g.55056524C>T	NCBI36
NG_027717.1:g.11111G>A
NG_050666.1:g.17612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1442G>A MANE Select	ENSP00000323511.2:p.Gly481Asp
ENST00000636840.1:c.59+153G>A
ENST00000640501.1:c.48G>A
ENST00000322344.7:c.1442G>A	ENSP00000323511.2:p.Gly481Asp
ENST00000593946.5:c.*1369G>A	ENSP00000468896.1:n.*1369G>A
ENST00000594661.5:n.1943G>A
ENST00000595081.5:n.345G>A
ENST00000596014.5:c.1442G>A	ENSP00000472300.1:p.Gly481Asp
ENST00000597965.2:c.149G>A	ENSP00000471097.2:p.Gly50Asp
ENST00000599454.5:n.362G>A
ENST00000600573.5:c.1349G>A	ENSP00000469826.1:p.Gly450Asp
ENST00000600910.5:c.1332G>A	ENSP00000473137.1:p.Trp444Ter
ENST00000601816.3:n.514G>A
ENST00000625216.2:c.523G>A	ENSP00000486898.1:n.523G>A
ENST00000627232.2:c.1362G>A	ENSP00000486037.1:n.1362G>A
ENST00000631020.2:c.1334G>A	ENSP00000486707.1:p.Gly445Asp
NM_007254.3:c.1442G>A	NP_009185.2:p.Gly481Asp
NM_007254.4:c.1442G>A MANE Select	NP_009185.2:p.Gly481Asp