Canonical Allele Identifier: CA406932509

Gene: PNKP

Linked Data

• ClinVar Variation Id: 947196
• ClinVar RCV Id: RCV001218217
• dbSNP Id: rs753976364
• MyVariant Identifiers: chr19:g.50364591C>A (hg19) ; chr19:g.49861334C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861334C>A , CM000681.2:g.49861334C>A	GRCh38
NC_000019.9:g.50364591C>A , CM000681.1:g.50364591C>A	GRCh37
NC_000019.8:g.55056403C>A	NCBI36
NG_027717.1:g.11232G>T
NG_050666.1:g.17491C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1480G>T MANE Select	ENSP00000323511.2:p.Gly494Cys
ENST00000636840.1:c.59+274G>T
ENST00000640501.1:c.82G>T
ENST00000322344.7:c.1480G>T	ENSP00000323511.2:p.Gly494Cys
ENST00000593946.5:c.*1407G>T	ENSP00000468896.1:n.*1407G>T
ENST00000594661.5:n.1981G>T
ENST00000595081.5:n.383G>T
ENST00000596014.5:c.1480G>T	ENSP00000472300.1:p.Gly494Cys
ENST00000597965.2:c.270G>T	ENSP00000471097.2:n.270G>T
ENST00000599454.5:n.400G>T
ENST00000600573.5:c.1387G>T	ENSP00000469826.1:p.Gly463Cys
ENST00000600910.5:c.*2G>T	ENSP00000473137.1:n.*2G>T
ENST00000601816.3:n.552G>T
ENST00000625216.2:c.561G>T	ENSP00000486898.1:n.561G>T
ENST00000627232.2:c.1400G>T	ENSP00000486037.1:n.1400G>T
ENST00000631020.2:c.1372G>T	ENSP00000486707.1:p.Gly458Cys
NM_007254.3:c.1480G>T	NP_009185.2:p.Gly494Cys
NM_007254.4:c.1480G>T MANE Select	NP_009185.2:p.Gly494Cys