Canonical Allele Identifier: CA508296179

Gene: PNKP

Linked Data

• ClinVar Variation Id: 760622
• ClinVar RCV Id: RCV000938589
• dbSNP Id: rs1416491595
• gnomAD v4: 19-49862050-C-G
• MyVariant Identifiers: chr19:g.50365307C>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1182G>C MANE Select	ENSP00000323511.2:p.Val394=
ENST00000322344.7:c.1182G>C	ENSP00000323511.2:p.Val394=
ENST00000593706.3:n.616G>C
ENST00000593946.5:c.*1109G>C	ENSP00000468896.1:n.*1109G>C
ENST00000594661.5:n.1683G>C
ENST00000596014.5:c.1182G>C	ENSP00000472300.1:p.Val394=
ENST00000599454.5:n.26G>C
ENST00000600573.5:c.1089G>C	ENSP00000469826.1:p.Val363=
ENST00000600910.5:c.1182G>C	ENSP00000473137.1:p.Val394=
ENST00000601816.3:n.81G>C
ENST00000625216.2:c.263G>C	ENSP00000486898.1:p.Ter88Ser
ENST00000627232.2:c.1102G>C	ENSP00000486037.1:n.1102G>C
ENST00000631020.2:c.1074G>C	ENSP00000486707.1:p.Val358=
NM_007254.3:c.1182G>C	NP_009185.2:p.Val394=
NM_007254.4:c.1182G>C MANE Select	NP_009185.2:p.Val394=