Canonical Allele Identifier: CA406932803

Gene: PNKP

Linked Data

• dbSNP Id: rs1281429993
• gnomAD v3: 19-49861480-G-A
• gnomAD v4: 19-49861480-G-A
• MyVariant Identifiers: chr19:g.50364737G>A (hg19) ; chr19:g.49861480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861480G>A , CM000681.2:g.49861480G>A	GRCh38
NC_000019.9:g.50364737G>A , CM000681.1:g.50364737G>A	GRCh37
NC_000019.8:g.55056549G>A	NCBI36
NG_027717.1:g.11086C>T
NG_050666.1:g.17637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1417C>T MANE Select	ENSP00000323511.2:p.Pro473Ser
ENST00000636840.1:c.59+128C>T
ENST00000640501.1:c.23C>T
ENST00000322344.7:c.1417C>T	ENSP00000323511.2:p.Pro473Ser
ENST00000593946.5:c.*1344C>T	ENSP00000468896.1:n.*1344C>T
ENST00000594661.5:n.1918C>T
ENST00000595081.5:n.320C>T
ENST00000596014.5:c.1417C>T	ENSP00000472300.1:p.Pro473Ser
ENST00000597965.2:c.124C>T	ENSP00000471097.2:p.Pro42Ser
ENST00000599454.5:n.337C>T
ENST00000600573.5:c.1324C>T	ENSP00000469826.1:p.Pro442Ser
ENST00000600910.5:c.1307C>T	ENSP00000473137.1:p.Pro436Leu
ENST00000601816.3:n.489C>T
ENST00000625216.2:c.498C>T	ENSP00000486898.1:n.498C>T
ENST00000627232.2:c.1337C>T	ENSP00000486037.1:n.1337C>T
ENST00000631020.2:c.1309C>T	ENSP00000486707.1:p.Pro437Ser
NM_007254.3:c.1417C>T	NP_009185.2:p.Pro473Ser
NM_007254.4:c.1417C>T MANE Select	NP_009185.2:p.Pro473Ser