Canonical Allele Identifier: CA406881134

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862419-G-T
• MyVariant Identifiers: chr19:g.50365676G>T (hg19) ; chr19:g.49862419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862419G>T , CM000681.2:g.49862419G>T	GRCh38
NC_000019.9:g.50365676G>T , CM000681.1:g.50365676G>T	GRCh37
NC_000019.8:g.55057488G>T	NCBI36
NG_027717.1:g.10147C>A
NG_050666.1:g.18576G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.981C>A MANE Select	ENSP00000323511.2:p.Phe327Leu
ENST00000322344.7:c.981C>A	ENSP00000323511.2:p.Phe327Leu
ENST00000593706.3:n.336C>A
ENST00000593946.5:c.*908C>A	ENSP00000468896.1:n.*908C>A
ENST00000594661.5:n.1482C>A
ENST00000596014.5:c.981C>A	ENSP00000472300.1:p.Phe327Leu
ENST00000600573.5:c.936+119C>A	ENSP00000469826.1:n.936+119C>A
ENST00000600910.5:c.981C>A	ENSP00000473137.1:p.Phe327Leu
ENST00000625216.2:c.159C>A	ENSP00000486898.1:p.Phe53Leu
ENST00000627232.2:c.901C>A	ENSP00000486037.1:n.901C>A
ENST00000627317.1:c.602C>A
ENST00000629179.1:n.752C>A
ENST00000631020.2:c.873C>A	ENSP00000486707.1:p.Phe291Leu
NM_007254.3:c.981C>A	NP_009185.2:p.Phe327Leu
NM_007254.4:c.981C>A MANE Select	NP_009185.2:p.Phe327Leu