Canonical Allele Identifier: CA406932765

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2851753
• ClinVar RCV Id: RCV003640254
• dbSNP Id: rs2074757222
• gnomAD v3: 19-49861469-G-A
• gnomAD v4: 19-49861469-G-A
• MyVariant Identifiers: chr19:g.50364726G>A (hg19) ; chr19:g.49861469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861469G>A , CM000681.2:g.49861469G>A	GRCh38
NC_000019.9:g.50364726G>A , CM000681.1:g.50364726G>A	GRCh37
NC_000019.8:g.55056538G>A	NCBI36
NG_027717.1:g.11097C>T
NG_050666.1:g.17626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1428C>T MANE Select	ENSP00000323511.2:p.Asp476=
ENST00000636840.1:c.59+139C>T
ENST00000640501.1:c.34C>T
ENST00000322344.7:c.1428C>T	ENSP00000323511.2:p.Asp476=
ENST00000593946.5:c.*1355C>T	ENSP00000468896.1:n.*1355C>T
ENST00000594661.5:n.1929C>T
ENST00000595081.5:n.331C>T
ENST00000596014.5:c.1428C>T	ENSP00000472300.1:p.Asp476=
ENST00000597965.2:c.135C>T	ENSP00000471097.2:p.Asp45=
ENST00000599454.5:n.348C>T
ENST00000600573.5:c.1335C>T	ENSP00000469826.1:p.Asp445=
ENST00000600910.5:c.1318C>T	ENSP00000473137.1:p.His440Tyr
ENST00000601816.3:n.500C>T
ENST00000625216.2:c.509C>T	ENSP00000486898.1:n.509C>T
ENST00000627232.2:c.1348C>T	ENSP00000486037.1:n.1348C>T
ENST00000631020.2:c.1320C>T	ENSP00000486707.1:p.Asp440=
NM_007254.3:c.1428C>T	NP_009185.2:p.Asp476=
NM_007254.4:c.1428C>T MANE Select	NP_009185.2:p.Asp476=