Canonical Allele Identifier: CA406878727

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365311T>A (hg19) ; chr19:g.49862054T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862054T>A , CM000681.2:g.49862054T>A	GRCh38
NC_000019.9:g.50365311T>A , CM000681.1:g.50365311T>A	GRCh37
NC_000019.8:g.55057123T>A	NCBI36
NG_027717.1:g.10512A>T
NG_050666.1:g.18211T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1178A>T MANE Select	ENSP00000323511.2:p.His393Leu
ENST00000322344.7:c.1178A>T	ENSP00000323511.2:p.His393Leu
ENST00000593706.3:n.612A>T
ENST00000593946.5:c.*1105A>T	ENSP00000468896.1:n.*1105A>T
ENST00000594661.5:n.1679A>T
ENST00000596014.5:c.1178A>T	ENSP00000472300.1:p.His393Leu
ENST00000599454.5:n.22A>T
ENST00000600573.5:c.1085A>T	ENSP00000469826.1:p.His362Leu
ENST00000600910.5:c.1178A>T	ENSP00000473137.1:p.His393Leu
ENST00000601816.3:n.77A>T
ENST00000625216.2:c.259A>T	ENSP00000486898.1:p.Thr87Ser
ENST00000627232.2:c.1098A>T	ENSP00000486037.1:n.1098A>T
ENST00000631020.2:c.1070A>T	ENSP00000486707.1:p.His357Leu
NM_007254.3:c.1178A>T	NP_009185.2:p.His393Leu
NM_007254.4:c.1178A>T MANE Select	NP_009185.2:p.His393Leu