Canonical Allele Identifier: CA309539718

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2038447
• ClinVar RCV Id: RCV002894962
• dbSNP Id: rs887351816
• gnomAD v4: 19-49861461-A-G
• MyVariant Identifiers: chr19:g.50364718A>G (hg19) ; chr19:g.49861461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861461A>G , CM000681.2:g.49861461A>G	GRCh38
NC_000019.9:g.50364718A>G , CM000681.1:g.50364718A>G	GRCh37
NC_000019.8:g.55056530A>G	NCBI36
NG_027717.1:g.11105T>C
NG_050666.1:g.17618A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1436T>C MANE Select	ENSP00000323511.2:p.Met479Thr
ENST00000636840.1:c.59+147T>C
ENST00000640501.1:c.42T>C
ENST00000322344.7:c.1436T>C	ENSP00000323511.2:p.Met479Thr
ENST00000593946.5:c.*1363T>C	ENSP00000468896.1:n.*1363T>C
ENST00000594661.5:n.1937T>C
ENST00000595081.5:n.339T>C
ENST00000596014.5:c.1436T>C	ENSP00000472300.1:p.Met479Thr
ENST00000597965.2:c.143T>C	ENSP00000471097.2:p.Met48Thr
ENST00000599454.5:n.356T>C
ENST00000600573.5:c.1343T>C	ENSP00000469826.1:p.Met448Thr
ENST00000600910.5:c.1326T>C	ENSP00000473137.1:p.His442=
ENST00000601816.3:n.508T>C
ENST00000625216.2:c.517T>C	ENSP00000486898.1:n.517T>C
ENST00000627232.2:c.1356T>C	ENSP00000486037.1:n.1356T>C
ENST00000631020.2:c.1328T>C	ENSP00000486707.1:p.Met443Thr
NM_007254.3:c.1436T>C	NP_009185.2:p.Met479Thr
NM_007254.4:c.1436T>C MANE Select	NP_009185.2:p.Met479Thr