Canonical Allele Identifier: CA406880945

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862408-C-A
• MyVariant Identifiers: chr19:g.50365665C>A (hg19) ; chr19:g.49862408C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862408C>A , CM000681.2:g.49862408C>A	GRCh38
NC_000019.9:g.50365665C>A , CM000681.1:g.50365665C>A	GRCh37
NC_000019.8:g.55057477C>A	NCBI36
NG_027717.1:g.10158G>T
NG_050666.1:g.18565C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.992G>T MANE Select	ENSP00000323511.2:p.Trp331Leu
ENST00000322344.7:c.992G>T	ENSP00000323511.2:p.Trp331Leu
ENST00000593706.3:n.347G>T
ENST00000593946.5:c.*919G>T	ENSP00000468896.1:n.*919G>T
ENST00000594661.5:n.1493G>T
ENST00000596014.5:c.992G>T	ENSP00000472300.1:p.Trp331Leu
ENST00000600573.5:c.937-127G>T	ENSP00000469826.1:n.937-127G>T
ENST00000600910.5:c.992G>T	ENSP00000473137.1:p.Trp331Leu
ENST00000625216.2:c.170G>T	ENSP00000486898.1:p.Trp57Leu
ENST00000627232.2:c.912G>T	ENSP00000486037.1:n.912G>T
ENST00000627317.1:c.613G>T
ENST00000629179.1:n.763G>T
ENST00000631020.2:c.884G>T	ENSP00000486707.1:p.Trp295Leu
NM_007254.3:c.992G>T	NP_009185.2:p.Trp331Leu
NM_007254.4:c.992G>T MANE Select	NP_009185.2:p.Trp331Leu