Canonical Allele Identifier: CA406932826

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861486-G-T
• MyVariant Identifiers: chr19:g.50364743G>T (hg19) ; chr19:g.49861486G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861486G>T , CM000681.2:g.49861486G>T	GRCh38
NC_000019.9:g.50364743G>T , CM000681.1:g.50364743G>T	GRCh37
NC_000019.8:g.55056555G>T	NCBI36
NG_027717.1:g.11080C>A
NG_050666.1:g.17643G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1411C>A MANE Select	ENSP00000323511.2:p.His471Asn
ENST00000636840.1:c.59+122C>A
ENST00000640501.1:c.17C>A
ENST00000322344.7:c.1411C>A	ENSP00000323511.2:p.His471Asn
ENST00000593946.5:c.*1338C>A	ENSP00000468896.1:n.*1338C>A
ENST00000594661.5:n.1912C>A
ENST00000595081.5:n.314C>A
ENST00000596014.5:c.1411C>A	ENSP00000472300.1:p.His471Asn
ENST00000597965.2:c.118C>A	ENSP00000471097.2:p.His40Asn
ENST00000599454.5:n.331C>A
ENST00000600573.5:c.1318C>A	ENSP00000469826.1:p.His440Asn
ENST00000600910.5:c.1301C>A	ENSP00000473137.1:p.Ser434Ter
ENST00000601816.3:n.483C>A
ENST00000625216.2:c.492C>A	ENSP00000486898.1:n.492C>A
ENST00000627232.2:c.1331C>A	ENSP00000486037.1:n.1331C>A
ENST00000631020.2:c.1303C>A	ENSP00000486707.1:p.His435Asn
NM_007254.3:c.1411C>A	NP_009185.2:p.His471Asn
NM_007254.4:c.1411C>A MANE Select	NP_009185.2:p.His471Asn