Canonical Allele Identifier: CA9586390

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2171084
• ClinVar RCV Id: RCV003080877
• dbSNP Id: rs377619541
• ExAC: 19:50364763 C / A
• gnomAD v2: 19-50364763-C-A
• MyVariant Identifiers: chr19:g.50364763C>A (hg19) ; chr19:g.49861506C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861506C>A , CM000681.2:g.49861506C>A	GRCh38
NC_000019.9:g.50364763C>A , CM000681.1:g.50364763C>A	GRCh37
NC_000019.8:g.55056575C>A	NCBI36
NG_027717.1:g.11060G>T
NG_050666.1:g.17663C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1391G>T MANE Select	ENSP00000323511.2:p.Arg464Leu
ENST00000636840.1:c.59+102G>T
ENST00000322344.7:c.1391G>T	ENSP00000323511.2:p.Arg464Leu
ENST00000593946.5:c.*1318G>T	ENSP00000468896.1:n.*1318G>T
ENST00000594661.5:n.1892G>T
ENST00000595081.5:n.294G>T
ENST00000596014.5:c.1391G>T	ENSP00000472300.1:p.Arg464Leu
ENST00000597965.2:c.98G>T	ENSP00000471097.2:p.Arg33Leu
ENST00000599454.5:n.311G>T
ENST00000600573.5:c.1298G>T	ENSP00000469826.1:p.Arg433Leu
ENST00000600910.5:c.1281G>T	ENSP00000473137.1:p.Ser427=
ENST00000601816.3:n.463G>T
ENST00000625216.2:c.472G>T	ENSP00000486898.1:n.472G>T
ENST00000627232.2:c.1311G>T	ENSP00000486037.1:n.1311G>T
ENST00000631020.2:c.1283G>T	ENSP00000486707.1:p.Arg428Leu
NM_007254.3:c.1391G>T	NP_009185.2:p.Arg464Leu
NM_007254.4:c.1391G>T MANE Select	NP_009185.2:p.Arg464Leu