Canonical Allele Identifier: CA406881012

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862412-T-A
• MyVariant Identifiers: chr19:g.50365669T>A (hg19) ; chr19:g.49862412T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862412T>A , CM000681.2:g.49862412T>A	GRCh38
NC_000019.9:g.50365669T>A , CM000681.1:g.50365669T>A	GRCh37
NC_000019.8:g.55057481T>A	NCBI36
NG_027717.1:g.10154A>T
NG_050666.1:g.18569T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.988A>T MANE Select	ENSP00000323511.2:p.Lys330Ter
ENST00000322344.7:c.988A>T	ENSP00000323511.2:p.Lys330Ter
ENST00000593706.3:n.343A>T
ENST00000593946.5:c.*915A>T	ENSP00000468896.1:n.*915A>T
ENST00000594661.5:n.1489A>T
ENST00000596014.5:c.988A>T	ENSP00000472300.1:p.Lys330Ter
ENST00000600573.5:c.936+126A>T	ENSP00000469826.1:n.936+126A>T
ENST00000600910.5:c.988A>T	ENSP00000473137.1:p.Lys330Ter
ENST00000625216.2:c.166A>T	ENSP00000486898.1:p.Lys56Ter
ENST00000627232.2:c.908A>T	ENSP00000486037.1:n.908A>T
ENST00000627317.1:c.609A>T
ENST00000629179.1:n.759A>T
ENST00000631020.2:c.880A>T	ENSP00000486707.1:p.Lys294Ter
NM_007254.3:c.988A>T	NP_009185.2:p.Lys330Ter
NM_007254.4:c.988A>T MANE Select	NP_009185.2:p.Lys330Ter