Canonical Allele Identifier: CA406932862

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861495-C-A
• MyVariant Identifiers: chr19:g.50364752C>A (hg19) ; chr19:g.49861495C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861495C>A , CM000681.2:g.49861495C>A	GRCh38
NC_000019.9:g.50364752C>A , CM000681.1:g.50364752C>A	GRCh37
NC_000019.8:g.55056564C>A	NCBI36
NG_027717.1:g.11071G>T
NG_050666.1:g.17652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1402G>T MANE Select	ENSP00000323511.2:p.Asp468Tyr
ENST00000636840.1:c.59+113G>T
ENST00000640501.1:c.8G>T
ENST00000322344.7:c.1402G>T	ENSP00000323511.2:p.Asp468Tyr
ENST00000593946.5:c.*1329G>T	ENSP00000468896.1:n.*1329G>T
ENST00000594661.5:n.1903G>T
ENST00000595081.5:n.305G>T
ENST00000596014.5:c.1402G>T	ENSP00000472300.1:p.Asp468Tyr
ENST00000597965.2:c.109G>T	ENSP00000471097.2:p.Asp37Tyr
ENST00000599454.5:n.322G>T
ENST00000600573.5:c.1309G>T	ENSP00000469826.1:p.Asp437Tyr
ENST00000600910.5:c.1292G>T	ENSP00000473137.1:p.Gly431Val
ENST00000601816.3:n.474G>T
ENST00000625216.2:c.483G>T	ENSP00000486898.1:n.483G>T
ENST00000627232.2:c.1322G>T	ENSP00000486037.1:n.1322G>T
ENST00000631020.2:c.1294G>T	ENSP00000486707.1:p.Asp432Tyr
NM_007254.3:c.1402G>T	NP_009185.2:p.Asp468Tyr
NM_007254.4:c.1402G>T MANE Select	NP_009185.2:p.Asp468Tyr