Canonical Allele Identifier: CA406933233

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861675-G-T
• MyVariant Identifiers: chr19:g.50364932G>T (hg19) ; chr19:g.49861675G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861675G>T , CM000681.2:g.49861675G>T	GRCh38
NC_000019.9:g.50364932G>T , CM000681.1:g.50364932G>T	GRCh37
NC_000019.8:g.55056744G>T	NCBI36
NG_027717.1:g.10891C>A
NG_050666.1:g.17832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1319C>A MANE Select	ENSP00000323511.2:p.Ala440Asp
ENST00000322344.7:c.1319C>A	ENSP00000323511.2:p.Ala440Asp
ENST00000593946.5:c.*1246C>A	ENSP00000468896.1:n.*1246C>A
ENST00000594661.5:n.1820C>A
ENST00000595081.5:n.222C>A
ENST00000596014.5:c.1319C>A	ENSP00000472300.1:p.Ala440Asp
ENST00000597965.2:c.26C>A	ENSP00000471097.2:p.Ala9Asp
ENST00000599454.5:n.239C>A
ENST00000600573.5:c.1226C>A	ENSP00000469826.1:p.Ala409Asp
ENST00000600910.5:c.1209C>A	ENSP00000473137.1:p.Ser403Arg
ENST00000601816.3:n.294C>A
ENST00000625216.2:c.400C>A	ENSP00000486898.1:n.400C>A
ENST00000627232.2:c.1239C>A	ENSP00000486037.1:n.1239C>A
ENST00000631020.2:c.1211C>A	ENSP00000486707.1:p.Ala404Asp
NM_007254.3:c.1319C>A	NP_009185.2:p.Ala440Asp
NM_007254.4:c.1319C>A MANE Select	NP_009185.2:p.Ala440Asp