Canonical Allele Identifier: CA9586469

Gene: PNKP

Linked Data

• dbSNP Id: rs555356993
• ExAC: 19:50364994 G / A
• gnomAD v2: 19-50364994-G-A
• gnomAD v3: 19-49861737-G-A
• gnomAD v4: 19-49861737-G-A
• MyVariant Identifiers: chr19:g.50364994G>A (hg19) ; chr19:g.49861737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861737G>A , CM000681.2:g.49861737G>A	GRCh38
NC_000019.9:g.50364994G>A , CM000681.1:g.50364994G>A	GRCh37
NC_000019.8:g.55056806G>A	NCBI36
NG_027717.1:g.10829C>T
NG_050666.1:g.17894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1298+35C>T MANE Select	ENSP00000323511.2:n.1298+35C>T
ENST00000322344.7:c.1298+35C>T	ENSP00000323511.2:n.1298+35C>T
ENST00000593946.5:c.*1225+35C>T	ENSP00000468896.1:n.*1225+35C>T
ENST00000594661.5:n.1799+35C>T
ENST00000595081.5:n.160C>T
ENST00000596014.5:c.1298+35C>T	ENSP00000472300.1:n.1298+35C>T
ENST00000597965.2:c.5+35C>T	ENSP00000471097.2:n.5+35C>T
ENST00000599454.5:n.177C>T
ENST00000600573.5:c.1205+35C>T	ENSP00000469826.1:n.1205+35C>T
ENST00000600910.5:c.1189-42C>T	ENSP00000473137.1:n.1189-42C>T
ENST00000601816.3:n.232C>T
ENST00000625216.2:c.379+35C>T	ENSP00000486898.1:n.379+35C>T
ENST00000627232.2:c.1218+35C>T	ENSP00000486037.1:n.1218+35C>T
ENST00000631020.2:c.1190+35C>T	ENSP00000486707.1:n.1190+35C>T
NM_007254.3:c.1298+35C>T	NP_009185.2:n.1298+35C>T
NM_007254.4:c.1298+35C>T MANE Select	NP_009185.2:n.1298+35C>T