Canonical Allele Identifier: CA406933148

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861652-A-G
• MyVariant Identifiers: chr19:g.50364909A>G (hg19) ; chr19:g.49861652A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861652A>G , CM000681.2:g.49861652A>G	GRCh38
NC_000019.9:g.50364909A>G , CM000681.1:g.50364909A>G	GRCh37
NC_000019.8:g.55056721A>G	NCBI36
NG_027717.1:g.10914T>C
NG_050666.1:g.17809A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1342T>C MANE Select	ENSP00000323511.2:p.Phe448Leu
ENST00000636840.1:c.15T>C
ENST00000322344.7:c.1342T>C	ENSP00000323511.2:p.Phe448Leu
ENST00000593946.5:c.*1269T>C	ENSP00000468896.1:n.*1269T>C
ENST00000594661.5:n.1843T>C
ENST00000595081.5:n.245T>C
ENST00000596014.5:c.1342T>C	ENSP00000472300.1:p.Phe448Leu
ENST00000597965.2:c.49T>C	ENSP00000471097.2:p.Phe17Leu
ENST00000599454.5:n.262T>C
ENST00000600573.5:c.1249T>C	ENSP00000469826.1:p.Phe417Leu
ENST00000600910.5:c.1232T>C	ENSP00000473137.1:p.Leu411Pro
ENST00000601816.3:n.317T>C
ENST00000625216.2:c.423T>C	ENSP00000486898.1:n.423T>C
ENST00000627232.2:c.1262T>C	ENSP00000486037.1:n.1262T>C
ENST00000631020.2:c.1234T>C	ENSP00000486707.1:p.Phe412Leu
NM_007254.3:c.1342T>C	NP_009185.2:p.Phe448Leu
NM_007254.4:c.1342T>C MANE Select	NP_009185.2:p.Phe448Leu