Canonical Allele Identifier: CA406878670

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365299A>T (hg19) ; chr19:g.49862042A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862042A>T , CM000681.2:g.49862042A>T	GRCh38
NC_000019.9:g.50365299A>T , CM000681.1:g.50365299A>T	GRCh37
NC_000019.8:g.55057111A>T	NCBI36
NG_027717.1:g.10524T>A
NG_050666.1:g.18199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1188+2T>A MANE Select	ENSP00000323511.2:n.1188+2T>A
ENST00000322344.7:c.1188+2T>A	ENSP00000323511.2:n.1188+2T>A
ENST00000593706.3:n.624T>A
ENST00000593946.5:c.*1115+2T>A	ENSP00000468896.1:n.*1115+2T>A
ENST00000594661.5:n.1689+2T>A
ENST00000596014.5:c.1188+2T>A	ENSP00000472300.1:n.1188+2T>A
ENST00000599454.5:n.32+2T>A
ENST00000600573.5:c.1095+2T>A	ENSP00000469826.1:n.1095+2T>A
ENST00000600910.5:c.1188+2T>A	ENSP00000473137.1:n.1188+2T>A
ENST00000601816.3:n.87+2T>A
ENST00000625216.2:c.269+2T>A	ENSP00000486898.1:n.269+2T>A
ENST00000627232.2:c.1108+2T>A	ENSP00000486037.1:n.1108+2T>A
ENST00000631020.2:c.1080+2T>A	ENSP00000486707.1:n.1080+2T>A
NM_007254.3:c.1188+2T>A	NP_009185.2:n.1188+2T>A
NM_007254.4:c.1188+2T>A MANE Select	NP_009185.2:n.1188+2T>A