Canonical Allele Identifier: CA309539729

Gene: PNKP

Linked Data

• ClinVar Variation Id: 892704
• ClinVar RCV Id: RCV001129142 ; RCV003526034
• dbSNP Id: rs1017330396
• gnomAD v2: 19-50364732-C-T
• gnomAD v3: 19-49861475-C-T
• gnomAD v4: 19-49861475-C-T
• MyVariant Identifiers: chr19:g.50364732C>T (hg19) ; chr19:g.49861475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861475C>T , CM000681.2:g.49861475C>T	GRCh38
NC_000019.9:g.50364732C>T , CM000681.1:g.50364732C>T	GRCh37
NC_000019.8:g.55056544C>T	NCBI36
NG_027717.1:g.11091G>A
NG_050666.1:g.17632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1422G>A MANE Select	ENSP00000323511.2:p.Val474=
ENST00000636840.1:c.59+133G>A
ENST00000640501.1:c.28G>A
ENST00000322344.7:c.1422G>A	ENSP00000323511.2:p.Val474=
ENST00000593946.5:c.*1349G>A	ENSP00000468896.1:n.*1349G>A
ENST00000594661.5:n.1923G>A
ENST00000595081.5:n.325G>A
ENST00000596014.5:c.1422G>A	ENSP00000472300.1:p.Val474=
ENST00000597965.2:c.129G>A	ENSP00000471097.2:p.Val43=
ENST00000599454.5:n.342G>A
ENST00000600573.5:c.1329G>A	ENSP00000469826.1:p.Val443=
ENST00000600910.5:c.1312G>A	ENSP00000473137.1:p.Val438Ile
ENST00000601816.3:n.494G>A
ENST00000625216.2:c.503G>A	ENSP00000486898.1:n.503G>A
ENST00000627232.2:c.1342G>A	ENSP00000486037.1:n.1342G>A
ENST00000631020.2:c.1314G>A	ENSP00000486707.1:p.Val438=
NM_007254.3:c.1422G>A	NP_009185.2:p.Val474=
NM_007254.4:c.1422G>A MANE Select	NP_009185.2:p.Val474=