Canonical Allele Identifier: CA309539921

Gene: PNKP

Linked Data

• dbSNP Id: rs1038631441
• gnomAD v2: 19-50364935-C-T
• gnomAD v3: 19-49861678-C-T
• gnomAD v4: 19-49861678-C-T
• MyVariant Identifiers: chr19:g.50364935C>T (hg19) ; chr19:g.49861678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861678C>T , CM000681.2:g.49861678C>T	GRCh38
NC_000019.9:g.50364935C>T , CM000681.1:g.50364935C>T	GRCh37
NC_000019.8:g.55056747C>T	NCBI36
NG_027717.1:g.10888G>A
NG_050666.1:g.17835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1316G>A MANE Select	ENSP00000323511.2:p.Arg439Gln
ENST00000322344.7:c.1316G>A	ENSP00000323511.2:p.Arg439Gln
ENST00000593946.5:c.*1243G>A	ENSP00000468896.1:n.*1243G>A
ENST00000594661.5:n.1817G>A
ENST00000595081.5:n.219G>A
ENST00000596014.5:c.1316G>A	ENSP00000472300.1:p.Arg439Gln
ENST00000597965.2:c.23G>A	ENSP00000471097.2:p.Arg8Gln
ENST00000599454.5:n.236G>A
ENST00000600573.5:c.1223G>A	ENSP00000469826.1:p.Arg408Gln
ENST00000600910.5:c.1206G>A	ENSP00000473137.1:p.Pro402=
ENST00000601816.3:n.291G>A
ENST00000625216.2:c.397G>A	ENSP00000486898.1:n.397G>A
ENST00000627232.2:c.1236G>A	ENSP00000486037.1:n.1236G>A
ENST00000631020.2:c.1208G>A	ENSP00000486707.1:p.Arg403Gln
NM_007254.3:c.1316G>A	NP_009185.2:p.Arg439Gln
NM_007254.4:c.1316G>A MANE Select	NP_009185.2:p.Arg439Gln