Canonical Allele Identifier: CA406878679

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365301C>A (hg19) ; chr19:g.49862044C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862044C>A , CM000681.2:g.49862044C>A	GRCh38
NC_000019.9:g.50365301C>A , CM000681.1:g.50365301C>A	GRCh37
NC_000019.8:g.55057113C>A	NCBI36
NG_027717.1:g.10522G>T
NG_050666.1:g.18201C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1188G>T MANE Select	ENSP00000323511.2:p.Arg396Ser
ENST00000322344.7:c.1188G>T	ENSP00000323511.2:p.Arg396Ser
ENST00000593706.3:n.622G>T
ENST00000593946.5:c.*1115G>T	ENSP00000468896.1:n.*1115G>T
ENST00000594661.5:n.1689G>T
ENST00000596014.5:c.1188G>T	ENSP00000472300.1:p.Arg396Ser
ENST00000599454.5:n.32G>T
ENST00000600573.5:c.1095G>T	ENSP00000469826.1:p.Arg365Ser
ENST00000600910.5:c.1188G>T	ENSP00000473137.1:p.Arg396Ser
ENST00000601816.3:n.87G>T
ENST00000625216.2:c.269G>T	ENSP00000486898.1:n.269G>T
ENST00000627232.2:c.1108G>T	ENSP00000486037.1:n.1108G>T
ENST00000631020.2:c.1080G>T	ENSP00000486707.1:p.Arg360Ser
NM_007254.3:c.1188G>T	NP_009185.2:p.Arg396Ser
NM_007254.4:c.1188G>T MANE Select	NP_009185.2:p.Arg396Ser