Canonical Allele Identifier: CA309539743

Gene: PNKP

Linked Data

• dbSNP Id: rs879166580
• gnomAD v4: 19-49861493-G-A
• MyVariant Identifiers: chr19:g.50364750G>A (hg19) ; chr19:g.49861493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861493G>A , CM000681.2:g.49861493G>A	GRCh38
NC_000019.9:g.50364750G>A , CM000681.1:g.50364750G>A	GRCh37
NC_000019.8:g.55056562G>A	NCBI36
NG_027717.1:g.11073C>T
NG_050666.1:g.17650G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1404C>T MANE Select	ENSP00000323511.2:p.Asp468=
ENST00000636840.1:c.59+115C>T
ENST00000640501.1:c.10C>T
ENST00000322344.7:c.1404C>T	ENSP00000323511.2:p.Asp468=
ENST00000593946.5:c.*1331C>T	ENSP00000468896.1:n.*1331C>T
ENST00000594661.5:n.1905C>T
ENST00000595081.5:n.307C>T
ENST00000596014.5:c.1404C>T	ENSP00000472300.1:p.Asp468=
ENST00000597965.2:c.111C>T	ENSP00000471097.2:p.Asp37=
ENST00000599454.5:n.324C>T
ENST00000600573.5:c.1311C>T	ENSP00000469826.1:p.Asp437=
ENST00000600910.5:c.1294C>T	ENSP00000473137.1:p.Leu432Phe
ENST00000601816.3:n.476C>T
ENST00000625216.2:c.485C>T	ENSP00000486898.1:n.485C>T
ENST00000627232.2:c.1324C>T	ENSP00000486037.1:n.1324C>T
ENST00000631020.2:c.1296C>T	ENSP00000486707.1:p.Asp432=
NM_007254.3:c.1404C>T	NP_009185.2:p.Asp468=
NM_007254.4:c.1404C>T MANE Select	NP_009185.2:p.Asp468=