Canonical Allele Identifier: CA309494187

Gene: PNKP

Linked Data

• dbSNP Id: rs368069267
• gnomAD v2: 19-50365667-C-T
• gnomAD v4: 19-49862410-C-T
• MyVariant Identifiers: chr19:g.50365667C>T (hg19) ; chr19:g.49862410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862410C>T , CM000681.2:g.49862410C>T	GRCh38
NC_000019.9:g.50365667C>T , CM000681.1:g.50365667C>T	GRCh37
NC_000019.8:g.55057479C>T	NCBI36
NG_027717.1:g.10156G>A
NG_050666.1:g.18567C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.990G>A MANE Select	ENSP00000323511.2:p.Lys330=
ENST00000322344.7:c.990G>A	ENSP00000323511.2:p.Lys330=
ENST00000593706.3:n.345G>A
ENST00000593946.5:c.*917G>A	ENSP00000468896.1:n.*917G>A
ENST00000594661.5:n.1491G>A
ENST00000596014.5:c.990G>A	ENSP00000472300.1:p.Lys330=
ENST00000600573.5:c.937-129G>A	ENSP00000469826.1:n.937-129G>A
ENST00000600910.5:c.990G>A	ENSP00000473137.1:p.Lys330=
ENST00000625216.2:c.168G>A	ENSP00000486898.1:p.Lys56=
ENST00000627232.2:c.910G>A	ENSP00000486037.1:n.910G>A
ENST00000627317.1:c.611G>A
ENST00000629179.1:n.761G>A
ENST00000631020.2:c.882G>A	ENSP00000486707.1:p.Lys294=
NM_007254.3:c.990G>A	NP_009185.2:p.Lys330=
NM_007254.4:c.990G>A MANE Select	NP_009185.2:p.Lys330=