Canonical Allele Identifier: CA9586455

Gene: PNKP

Linked Data

• ClinVar Variation Id: 329893
• ClinVar RCV Id: RCV000271492 ; RCV002057524 ; RCV001718691
• dbSNP Id: rs565533397
• ExAC: 19:50364931 G / A
• gnomAD v2: 19-50364931-G-A
• gnomAD v3: 19-49861674-G-A
• gnomAD v4: 19-49861674-G-A
• COSMIC: COSM4636662 ; COSM4636663
• MyVariant Identifiers: chr19:g.50364931G>A (hg19) ; chr19:g.49861674G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861674G>A , CM000681.2:g.49861674G>A	GRCh38
NC_000019.9:g.50364931G>A , CM000681.1:g.50364931G>A	GRCh37
NC_000019.8:g.55056743G>A	NCBI36
NG_027717.1:g.10892C>T
NG_050666.1:g.17831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1320C>T MANE Select	ENSP00000323511.2:p.Ala440=
ENST00000322344.7:c.1320C>T	ENSP00000323511.2:p.Ala440=
ENST00000593946.5:c.*1247C>T	ENSP00000468896.1:n.*1247C>T
ENST00000594661.5:n.1821C>T
ENST00000595081.5:n.223C>T
ENST00000596014.5:c.1320C>T	ENSP00000472300.1:p.Ala440=
ENST00000597965.2:c.27C>T	ENSP00000471097.2:p.Ala9=
ENST00000599454.5:n.240C>T
ENST00000600573.5:c.1227C>T	ENSP00000469826.1:p.Ala409=
ENST00000600910.5:c.1210C>T	ENSP00000473137.1:p.Arg404Cys
ENST00000601816.3:n.295C>T
ENST00000625216.2:c.401C>T	ENSP00000486898.1:n.401C>T
ENST00000627232.2:c.1240C>T	ENSP00000486037.1:n.1240C>T
ENST00000631020.2:c.1212C>T	ENSP00000486707.1:p.Ala404=
NM_007254.3:c.1320C>T	NP_009185.2:p.Ala440=
NM_007254.4:c.1320C>T MANE Select	NP_009185.2:p.Ala440=