Canonical Allele Identifier: CA406932583

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861361-G-C
• MyVariant Identifiers: chr19:g.50364618G>C (hg19) ; chr19:g.49861361G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861361G>C , CM000681.2:g.49861361G>C	GRCh38
NC_000019.9:g.50364618G>C , CM000681.1:g.50364618G>C	GRCh37
NC_000019.8:g.55056430G>C	NCBI36
NG_027717.1:g.11205C>G
NG_050666.1:g.17518G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1453C>G MANE Select	ENSP00000323511.2:p.Gln485Glu
ENST00000636840.1:c.59+247C>G
ENST00000640501.1:c.55C>G
ENST00000322344.7:c.1453C>G	ENSP00000323511.2:p.Gln485Glu
ENST00000593946.5:c.*1380C>G	ENSP00000468896.1:n.*1380C>G
ENST00000594661.5:n.1954C>G
ENST00000595081.5:n.356C>G
ENST00000596014.5:c.1453C>G	ENSP00000472300.1:p.Gln485Glu
ENST00000597965.2:c.243C>G	ENSP00000471097.2:n.243C>G
ENST00000599454.5:n.373C>G
ENST00000600573.5:c.1360C>G	ENSP00000469826.1:p.Gln454Glu
ENST00000600910.5:c.1343C>G	ENSP00000473137.1:p.Ala448Gly
ENST00000601816.3:n.525C>G
ENST00000625216.2:c.534C>G	ENSP00000486898.1:n.534C>G
ENST00000627232.2:c.1373C>G	ENSP00000486037.1:n.1373C>G
ENST00000631020.2:c.1345C>G	ENSP00000486707.1:p.Gln449Glu
NM_007254.3:c.1453C>G	NP_009185.2:p.Gln485Glu
NM_007254.4:c.1453C>G MANE Select	NP_009185.2:p.Gln485Glu