Canonical Allele Identifier: CA406933423

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365052G>C (hg19) ; chr19:g.49861795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861795G>C , CM000681.2:g.49861795G>C	GRCh38
NC_000019.9:g.50365052G>C , CM000681.1:g.50365052G>C	GRCh37
NC_000019.8:g.55056864G>C	NCBI36
NG_027717.1:g.10771C>G
NG_050666.1:g.17952G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1275C>G MANE Select	ENSP00000323511.2:p.Asn425Lys
ENST00000322344.7:c.1275C>G	ENSP00000323511.2:p.Asn425Lys
ENST00000593946.5:c.*1202C>G	ENSP00000468896.1:n.*1202C>G
ENST00000594661.5:n.1776C>G
ENST00000595081.5:n.102C>G
ENST00000596014.5:c.1275C>G	ENSP00000472300.1:p.Asn425Lys
ENST00000599454.5:n.119C>G
ENST00000600573.5:c.1182C>G	ENSP00000469826.1:p.Asn394Lys
ENST00000600910.5:c.1189-100C>G	ENSP00000473137.1:n.1189-100C>G
ENST00000601816.3:n.174C>G
ENST00000625216.2:c.356C>G	ENSP00000486898.1:n.356C>G
ENST00000627232.2:c.1195C>G	ENSP00000486037.1:n.1195C>G
ENST00000631020.2:c.1167C>G	ENSP00000486707.1:p.Asn389Lys
NM_007254.3:c.1275C>G	NP_009185.2:p.Asn425Lys
NM_007254.4:c.1275C>G MANE Select	NP_009185.2:p.Asn425Lys