Canonical Allele Identifier: CA633894555

Gene: PNKP

Linked Data

• dbSNP Id: rs1157598075
• gnomAD v2: 19-50365146-C-T
• MyVariant Identifiers: chr19:g.50365146C>T (hg19) ; chr19:g.49861889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861889C>T , CM000681.2:g.49861889C>T	GRCh38
NC_000019.9:g.50365146C>T , CM000681.1:g.50365146C>T	GRCh37
NC_000019.8:g.55056958C>T	NCBI36
NG_027717.1:g.10677G>A
NG_050666.1:g.18046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1189-8G>A MANE Select	ENSP00000323511.2:n.1189-8G>A
ENST00000322344.7:c.1189-8G>A	ENSP00000323511.2:n.1189-8G>A
ENST00000593706.3:n.777G>A
ENST00000593946.5:c.*1116-8G>A	ENSP00000468896.1:n.*1116-8G>A
ENST00000594661.5:n.1690-8G>A
ENST00000595081.5:n.8G>A
ENST00000596014.5:c.1189-8G>A	ENSP00000472300.1:n.1189-8G>A
ENST00000599454.5:n.33-8G>A
ENST00000600573.5:c.1096-8G>A	ENSP00000469826.1:n.1096-8G>A
ENST00000600910.5:c.1188+155G>A	ENSP00000473137.1:n.1188+155G>A
ENST00000601816.3:n.88-8G>A
ENST00000625216.2:c.270-8G>A	ENSP00000486898.1:n.270-8G>A
ENST00000627232.2:c.1109-8G>A	ENSP00000486037.1:n.1109-8G>A
ENST00000631020.2:c.1081-8G>A	ENSP00000486707.1:n.1081-8G>A
NM_007254.3:c.1189-8G>A	NP_009185.2:n.1189-8G>A
NM_007254.4:c.1189-8G>A MANE Select	NP_009185.2:n.1189-8G>A