Canonical Allele Identifier: CA406881031

Gene: PNKP

Linked Data

• ClinVar Variation Id: 1366174
• ClinVar RCV Id: RCV001944548
• dbSNP Id: rs2074781406
• gnomAD v4: 19-49862414-A-G
• MyVariant Identifiers: chr19:g.50365671A>G (hg19) ; chr19:g.49862414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862414A>G , CM000681.2:g.49862414A>G	GRCh38
NC_000019.9:g.50365671A>G , CM000681.1:g.50365671A>G	GRCh37
NC_000019.8:g.55057483A>G	NCBI36
NG_027717.1:g.10152T>C
NG_050666.1:g.18571A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.986T>C MANE Select	ENSP00000323511.2:p.Leu329Pro
ENST00000322344.7:c.986T>C	ENSP00000323511.2:p.Leu329Pro
ENST00000593706.3:n.341T>C
ENST00000593946.5:c.*913T>C	ENSP00000468896.1:n.*913T>C
ENST00000594661.5:n.1487T>C
ENST00000596014.5:c.986T>C	ENSP00000472300.1:p.Leu329Pro
ENST00000600573.5:c.936+124T>C	ENSP00000469826.1:n.936+124T>C
ENST00000600910.5:c.986T>C	ENSP00000473137.1:p.Leu329Pro
ENST00000625216.2:c.164T>C	ENSP00000486898.1:p.Leu55Pro
ENST00000627232.2:c.906T>C	ENSP00000486037.1:n.906T>C
ENST00000627317.1:c.607T>C
ENST00000629179.1:n.757T>C
ENST00000631020.2:c.878T>C	ENSP00000486707.1:p.Leu293Pro
NM_007254.3:c.986T>C	NP_009185.2:p.Leu329Pro
NM_007254.4:c.986T>C MANE Select	NP_009185.2:p.Leu329Pro