Canonical Allele Identifier: CA9586507

Gene: PNKP

Linked Data

• ClinVar Variation Id: 1315031
• ClinVar RCV Id: RCV001773225
• dbSNP Id: rs777641575
• ExAC: 19:50365075 G / A
• gnomAD v2: 19-50365075-G-A
• gnomAD v3: 19-49861818-G-A
• gnomAD v4: 19-49861818-G-A
• MyVariant Identifiers: chr19:g.50365075G>A (hg19) ; chr19:g.49861818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861818G>A , CM000681.2:g.49861818G>A	GRCh38
NC_000019.9:g.50365075G>A , CM000681.1:g.50365075G>A	GRCh37
NC_000019.8:g.55056887G>A	NCBI36
NG_027717.1:g.10748C>T
NG_050666.1:g.17975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1252C>T MANE Select	ENSP00000323511.2:p.Arg418Trp
ENST00000322344.7:c.1252C>T	ENSP00000323511.2:p.Arg418Trp
ENST00000593706.3:n.848C>T
ENST00000593946.5:c.*1179C>T	ENSP00000468896.1:n.*1179C>T
ENST00000594661.5:n.1753C>T
ENST00000595081.5:n.79C>T
ENST00000596014.5:c.1252C>T	ENSP00000472300.1:p.Arg418Trp
ENST00000599454.5:n.96C>T
ENST00000600573.5:c.1159C>T	ENSP00000469826.1:p.Arg387Trp
ENST00000600910.5:c.1189-123C>T	ENSP00000473137.1:n.1189-123C>T
ENST00000601816.3:n.151C>T
ENST00000625216.2:c.333C>T	ENSP00000486898.1:n.333C>T
ENST00000627232.2:c.1172C>T	ENSP00000486037.1:n.1172C>T
ENST00000631020.2:c.1144C>T	ENSP00000486707.1:p.Arg382Trp
NM_007254.3:c.1252C>T	NP_009185.2:p.Arg418Trp
NM_007254.4:c.1252C>T MANE Select	NP_009185.2:p.Arg418Trp