Canonical Allele Identifier: CA406886286

Gene: PNKP

Linked Data

• ClinVar Variation Id: 1948904
• ClinVar RCV Id: RCV002659203
• gnomAD v4: 19-49864035-C-G
• MyVariant Identifiers: chr19:g.50367292C>G (hg19) ; chr19:g.49864035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49864035C>G , CM000681.2:g.49864035C>G	GRCh38
NC_000019.9:g.50367292C>G , CM000681.1:g.50367292C>G	GRCh37
NC_000019.8:g.55059104C>G	NCBI36
NG_027717.1:g.8531G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.673G>C MANE Select	ENSP00000323511.2:p.Gly225Arg
ENST00000636214.1:c.*210G>C	ENSP00000489983.1:n.*210G>C
ENST00000322344.7:c.673G>C	ENSP00000323511.2:p.Gly225Arg
ENST00000593706.3:n.28G>C
ENST00000593946.5:c.*600G>C	ENSP00000468896.1:n.*600G>C
ENST00000594661.5:n.1174G>C
ENST00000596014.5:c.673G>C	ENSP00000472300.1:p.Gly225Arg
ENST00000599543.3:c.673G>C	ENSP00000469848.2:p.Gly225Arg
ENST00000600573.5:c.673G>C	ENSP00000469826.1:p.Gly225Arg
ENST00000600910.5:c.673G>C	ENSP00000473137.1:p.Gly225Arg
ENST00000627232.2:c.593G>C	ENSP00000486037.1:n.593G>C
ENST00000627317.1:c.294G>C
ENST00000629179.1:n.444G>C
ENST00000631020.2:c.636+144G>C	ENSP00000486707.1:n.636+144G>C
NM_007254.3:c.673G>C	NP_009185.2:p.Gly225Arg
NM_007254.4:c.673G>C MANE Select	NP_009185.2:p.Gly225Arg