Canonical Allele Identifier: CA406932907

Gene: PNKP

Linked Data

• ClinVar Variation Id: 1412103
• ClinVar RCV Id: RCV001923081
• dbSNP Id: rs138249970
• gnomAD v4: 19-49861507-G-A
• MyVariant Identifiers: chr19:g.50364764G>A (hg19) ; chr19:g.49861507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861507G>A , CM000681.2:g.49861507G>A	GRCh38
NC_000019.9:g.50364764G>A , CM000681.1:g.50364764G>A	GRCh37
NC_000019.8:g.55056576G>A	NCBI36
NG_027717.1:g.11059C>T
NG_050666.1:g.17664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1390C>T MANE Select	ENSP00000323511.2:p.Arg464Ter
ENST00000636840.1:c.59+101C>T
ENST00000322344.7:c.1390C>T	ENSP00000323511.2:p.Arg464Ter
ENST00000593946.5:c.*1317C>T	ENSP00000468896.1:n.*1317C>T
ENST00000594661.5:n.1891C>T
ENST00000595081.5:n.293C>T
ENST00000596014.5:c.1390C>T	ENSP00000472300.1:p.Arg464Ter
ENST00000597965.2:c.97C>T	ENSP00000471097.2:p.Arg33Ter
ENST00000599454.5:n.310C>T
ENST00000600573.5:c.1297C>T	ENSP00000469826.1:p.Arg433Ter
ENST00000600910.5:c.1280C>T	ENSP00000473137.1:p.Ser427Leu
ENST00000601816.3:n.462C>T
ENST00000625216.2:c.471C>T	ENSP00000486898.1:n.471C>T
ENST00000627232.2:c.1310C>T	ENSP00000486037.1:n.1310C>T
ENST00000631020.2:c.1282C>T	ENSP00000486707.1:p.Arg428Ter
NM_007254.3:c.1390C>T	NP_009185.2:p.Arg464Ter
NM_007254.4:c.1390C>T MANE Select	NP_009185.2:p.Arg464Ter