Canonical Allele Identifier: CA406932742

Gene: PNKP

Linked Data

• dbSNP Id: rs1264163330
• gnomAD v2: 19-50364719-T-G
• gnomAD v3: 19-49861462-T-G
• gnomAD v4: 19-49861462-T-G
• MyVariant Identifiers: chr19:g.50364719T>G (hg19) ; chr19:g.49861462T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861462T>G , CM000681.2:g.49861462T>G	GRCh38
NC_000019.9:g.50364719T>G , CM000681.1:g.50364719T>G	GRCh37
NC_000019.8:g.55056531T>G	NCBI36
NG_027717.1:g.11104A>C
NG_050666.1:g.17619T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1435A>C MANE Select	ENSP00000323511.2:p.Met479Leu
ENST00000636840.1:c.59+146A>C
ENST00000640501.1:c.41A>C
ENST00000322344.7:c.1435A>C	ENSP00000323511.2:p.Met479Leu
ENST00000593946.5:c.*1362A>C	ENSP00000468896.1:n.*1362A>C
ENST00000594661.5:n.1936A>C
ENST00000595081.5:n.338A>C
ENST00000596014.5:c.1435A>C	ENSP00000472300.1:p.Met479Leu
ENST00000597965.2:c.142A>C	ENSP00000471097.2:p.Met48Leu
ENST00000599454.5:n.355A>C
ENST00000600573.5:c.1342A>C	ENSP00000469826.1:p.Met448Leu
ENST00000600910.5:c.1325A>C	ENSP00000473137.1:p.His442Pro
ENST00000601816.3:n.507A>C
ENST00000625216.2:c.516A>C	ENSP00000486898.1:n.516A>C
ENST00000627232.2:c.1355A>C	ENSP00000486037.1:n.1355A>C
ENST00000631020.2:c.1327A>C	ENSP00000486707.1:p.Met443Leu
NM_007254.3:c.1435A>C	NP_009185.2:p.Met479Leu
NM_007254.4:c.1435A>C MANE Select	NP_009185.2:p.Met479Leu