Canonical Allele Identifier: CA406932794

Gene: PNKP

Linked Data

• ClinVar Variation Id: 1772258
• ClinVar RCV Id: RCV002391820
• gnomAD v4: 19-49861477-C-A
• MyVariant Identifiers: chr19:g.50364734C>A (hg19) ; chr19:g.49861477C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861477C>A , CM000681.2:g.49861477C>A	GRCh38
NC_000019.9:g.50364734C>A , CM000681.1:g.50364734C>A	GRCh37
NC_000019.8:g.55056546C>A	NCBI36
NG_027717.1:g.11089G>T
NG_050666.1:g.17634C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1420G>T MANE Select	ENSP00000323511.2:p.Val474Leu
ENST00000636840.1:c.59+131G>T
ENST00000640501.1:c.26G>T
ENST00000322344.7:c.1420G>T	ENSP00000323511.2:p.Val474Leu
ENST00000593946.5:c.*1347G>T	ENSP00000468896.1:n.*1347G>T
ENST00000594661.5:n.1921G>T
ENST00000595081.5:n.323G>T
ENST00000596014.5:c.1420G>T	ENSP00000472300.1:p.Val474Leu
ENST00000597965.2:c.127G>T	ENSP00000471097.2:p.Val43Leu
ENST00000599454.5:n.340G>T
ENST00000600573.5:c.1327G>T	ENSP00000469826.1:p.Val443Leu
ENST00000600910.5:c.1310G>T	ENSP00000473137.1:p.Arg437Leu
ENST00000601816.3:n.492G>T
ENST00000625216.2:c.501G>T	ENSP00000486898.1:n.501G>T
ENST00000627232.2:c.1340G>T	ENSP00000486037.1:n.1340G>T
ENST00000631020.2:c.1312G>T	ENSP00000486707.1:p.Val438Leu
NM_007254.3:c.1420G>T	NP_009185.2:p.Val474Leu
NM_007254.4:c.1420G>T MANE Select	NP_009185.2:p.Val474Leu