Canonical Allele Identifier: CA406932781

Gene: PNKP

Linked Data

• ClinVar Variation Id: 650019
• ClinVar RCV Id: RCV000805090
• dbSNP Id: rs1600414629
• MyVariant Identifiers: chr19:g.50364730G>A (hg19) ; chr19:g.49861473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861473G>A , CM000681.2:g.49861473G>A	GRCh38
NC_000019.9:g.50364730G>A , CM000681.1:g.50364730G>A	GRCh37
NC_000019.8:g.55056542G>A	NCBI36
NG_027717.1:g.11093C>T
NG_050666.1:g.17630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1424C>T MANE Select	ENSP00000323511.2:p.Ser475Leu
ENST00000636840.1:c.59+135C>T
ENST00000640501.1:c.30C>T
ENST00000322344.7:c.1424C>T	ENSP00000323511.2:p.Ser475Leu
ENST00000593946.5:c.*1351C>T	ENSP00000468896.1:n.*1351C>T
ENST00000594661.5:n.1925C>T
ENST00000595081.5:n.327C>T
ENST00000596014.5:c.1424C>T	ENSP00000472300.1:p.Ser475Leu
ENST00000597965.2:c.131C>T	ENSP00000471097.2:p.Ser44Leu
ENST00000599454.5:n.344C>T
ENST00000600573.5:c.1331C>T	ENSP00000469826.1:p.Ser444Leu
ENST00000600910.5:c.1314C>T	ENSP00000473137.1:p.Val438=
ENST00000601816.3:n.496C>T
ENST00000625216.2:c.505C>T	ENSP00000486898.1:n.505C>T
ENST00000627232.2:c.1344C>T	ENSP00000486037.1:n.1344C>T
ENST00000631020.2:c.1316C>T	ENSP00000486707.1:p.Ser439Leu
NM_007254.3:c.1424C>T	NP_009185.2:p.Ser475Leu
NM_007254.4:c.1424C>T MANE Select	NP_009185.2:p.Ser475Leu