Canonical Allele Identifier: CA406933373

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861780-G-T
• MyVariant Identifiers: chr19:g.50365037G>T (hg19) ; chr19:g.49861780G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861780G>T , CM000681.2:g.49861780G>T	GRCh38
NC_000019.9:g.50365037G>T , CM000681.1:g.50365037G>T	GRCh37
NC_000019.8:g.55056849G>T	NCBI36
NG_027717.1:g.10786C>A
NG_050666.1:g.17937G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1290C>A MANE Select	ENSP00000323511.2:p.Ser430Arg
ENST00000322344.7:c.1290C>A	ENSP00000323511.2:p.Ser430Arg
ENST00000593946.5:c.*1217C>A	ENSP00000468896.1:n.*1217C>A
ENST00000594661.5:n.1791C>A
ENST00000595081.5:n.117C>A
ENST00000596014.5:c.1290C>A	ENSP00000472300.1:p.Ser430Arg
ENST00000599454.5:n.134C>A
ENST00000600573.5:c.1197C>A	ENSP00000469826.1:p.Ser399Arg
ENST00000600910.5:c.1189-85C>A	ENSP00000473137.1:n.1189-85C>A
ENST00000601816.3:n.189C>A
ENST00000625216.2:c.371C>A	ENSP00000486898.1:n.371C>A
ENST00000627232.2:c.1210C>A	ENSP00000486037.1:n.1210C>A
ENST00000631020.2:c.1182C>A	ENSP00000486707.1:p.Ser394Arg
NM_007254.3:c.1290C>A	NP_009185.2:p.Ser430Arg
NM_007254.4:c.1290C>A MANE Select	NP_009185.2:p.Ser430Arg