Canonical Allele Identifier: CA9586389

Gene: PNKP

Linked Data

• ClinVar Variation Id: 426407
• ClinVar RCV Id: RCV000489945 ; RCV000648426 ; RCV002318595
• dbSNP Id: rs145886749
• ExAC: 19:50364757 A / G
• gnomAD v2: 19-50364757-A-G
• gnomAD v3: 19-49861500-A-G
• gnomAD v4: 19-49861500-A-G
• MyVariant Identifiers: chr19:g.50364757A>G (hg19) ; chr19:g.49861500A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861500A>G , CM000681.2:g.49861500A>G	GRCh38
NC_000019.9:g.50364757A>G , CM000681.1:g.50364757A>G	GRCh37
NC_000019.8:g.55056569A>G	NCBI36
NG_027717.1:g.11066T>C
NG_050666.1:g.17657A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1397T>C MANE Select	ENSP00000323511.2:p.Met466Thr
ENST00000636840.1:c.59+108T>C
ENST00000640501.1:c.3T>C
ENST00000322344.7:c.1397T>C	ENSP00000323511.2:p.Met466Thr
ENST00000593946.5:c.*1324T>C	ENSP00000468896.1:n.*1324T>C
ENST00000594661.5:n.1898T>C
ENST00000595081.5:n.300T>C
ENST00000596014.5:c.1397T>C	ENSP00000472300.1:p.Met466Thr
ENST00000597965.2:c.104T>C	ENSP00000471097.2:p.Met35Thr
ENST00000599454.5:n.317T>C
ENST00000600573.5:c.1304T>C	ENSP00000469826.1:p.Met435Thr
ENST00000600910.5:c.1287T>C	ENSP00000473137.1:p.Asp429=
ENST00000601816.3:n.469T>C
ENST00000625216.2:c.478T>C	ENSP00000486898.1:n.478T>C
ENST00000627232.2:c.1317T>C	ENSP00000486037.1:n.1317T>C
ENST00000631020.2:c.1289T>C	ENSP00000486707.1:p.Met430Thr
NM_007254.3:c.1397T>C	NP_009185.2:p.Met466Thr
NM_007254.4:c.1397T>C MANE Select	NP_009185.2:p.Met466Thr