Canonical Allele Identifier: CA508296180

Gene: PNKP

Linked Data

• dbSNP Id: rs1416491595
• gnomAD v3: 19-49862050-C-T
• gnomAD v4: 19-49862050-C-T
• MyVariant Identifiers: chr19:g.50365307C>T (hg19) ; chr19:g.49862050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862050C>T , CM000681.2:g.49862050C>T	GRCh38
NC_000019.9:g.50365307C>T , CM000681.1:g.50365307C>T	GRCh37
NC_000019.8:g.55057119C>T	NCBI36
NG_027717.1:g.10516G>A
NG_050666.1:g.18207C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1182G>A MANE Select	ENSP00000323511.2:p.Val394=
ENST00000322344.7:c.1182G>A	ENSP00000323511.2:p.Val394=
ENST00000593706.3:n.616G>A
ENST00000593946.5:c.*1109G>A	ENSP00000468896.1:n.*1109G>A
ENST00000594661.5:n.1683G>A
ENST00000596014.5:c.1182G>A	ENSP00000472300.1:p.Val394=
ENST00000599454.5:n.26G>A
ENST00000600573.5:c.1089G>A	ENSP00000469826.1:p.Val363=
ENST00000600910.5:c.1182G>A	ENSP00000473137.1:p.Val394=
ENST00000601816.3:n.81G>A
ENST00000625216.2:c.263G>A	ENSP00000486898.1:p.Ter88=
ENST00000627232.2:c.1102G>A	ENSP00000486037.1:n.1102G>A
ENST00000631020.2:c.1074G>A	ENSP00000486707.1:p.Val358=
NM_007254.3:c.1182G>A	NP_009185.2:p.Val394=
NM_007254.4:c.1182G>A MANE Select	NP_009185.2:p.Val394=