Canonical Allele Identifier: CA9586830

Gene: PNKP

Linked Data

• ClinVar Variation Id: 378397
• ClinVar RCV Id: RCV000440874 ; RCV000459099 ; RCV001136201 ; RCV001531902 ; RCV002365476
• dbSNP Id: rs141969535
• ExAC: 19:50367287 C / T
• gnomAD v2: 19-50367287-C-T
• gnomAD v3: 19-49864030-C-T
• gnomAD v4: 19-49864030-C-T
• MyVariant Identifiers: chr19:g.50367287C>T (hg19) ; chr19:g.49864030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49864030C>T , CM000681.2:g.49864030C>T	GRCh38
NC_000019.9:g.50367287C>T , CM000681.1:g.50367287C>T	GRCh37
NC_000019.8:g.55059099C>T	NCBI36
NG_027717.1:g.8536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.678G>A MANE Select	ENSP00000323511.2:p.Lys226=
ENST00000636214.1:c.*215G>A	ENSP00000489983.1:n.*215G>A
ENST00000322344.7:c.678G>A	ENSP00000323511.2:p.Lys226=
ENST00000593706.3:n.33G>A
ENST00000593946.5:c.*605G>A	ENSP00000468896.1:n.*605G>A
ENST00000594661.5:n.1179G>A
ENST00000596014.5:c.678G>A	ENSP00000472300.1:p.Lys226=
ENST00000599543.3:c.678G>A	ENSP00000469848.2:p.Lys226=
ENST00000600573.5:c.678G>A	ENSP00000469826.1:p.Lys226=
ENST00000600910.5:c.678G>A	ENSP00000473137.1:p.Lys226=
ENST00000627232.2:c.598G>A	ENSP00000486037.1:n.598G>A
ENST00000627317.1:c.299G>A
ENST00000629179.1:n.449G>A
ENST00000631020.2:c.636+149G>A	ENSP00000486707.1:n.636+149G>A
NM_007254.3:c.678G>A	NP_009185.2:p.Lys226=
NM_007254.4:c.678G>A MANE Select	NP_009185.2:p.Lys226=