Canonical Allele Identifier: CA309540086

Gene: PNKP

Linked Data

• dbSNP Id: rs549069697
• gnomAD v4: 19-49861859-C-A
• MyVariant Identifiers: chr19:g.50365116C>A (hg19) ; chr19:g.49861859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861859C>A , CM000681.2:g.49861859C>A	GRCh38
NC_000019.9:g.50365116C>A , CM000681.1:g.50365116C>A	GRCh37
NC_000019.8:g.55056928C>A	NCBI36
NG_027717.1:g.10707G>T
NG_050666.1:g.18016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1211G>T MANE Select	ENSP00000323511.2:p.Arg404Leu
ENST00000322344.7:c.1211G>T	ENSP00000323511.2:p.Arg404Leu
ENST00000593706.3:n.807G>T
ENST00000593946.5:c.*1138G>T	ENSP00000468896.1:n.*1138G>T
ENST00000594661.5:n.1712G>T
ENST00000595081.5:n.38G>T
ENST00000596014.5:c.1211G>T	ENSP00000472300.1:p.Arg404Leu
ENST00000599454.5:n.55G>T
ENST00000600573.5:c.1118G>T	ENSP00000469826.1:p.Arg373Leu
ENST00000600910.5:c.1189-164G>T	ENSP00000473137.1:n.1189-164G>T
ENST00000601816.3:n.110G>T
ENST00000625216.2:c.292G>T	ENSP00000486898.1:n.292G>T
ENST00000627232.2:c.1131G>T	ENSP00000486037.1:n.1131G>T
ENST00000631020.2:c.1103G>T	ENSP00000486707.1:p.Arg368Leu
NM_007254.3:c.1211G>T	NP_009185.2:p.Arg404Leu
NM_007254.4:c.1211G>T MANE Select	NP_009185.2:p.Arg404Leu