Canonical Allele Identifier: CA402325408

Gene: SETBP1

Linked Data

• ClinVar Variation Id: 2696778
• ClinVar RCV Id: RCV003543142
• dbSNP Id: rs1263083665
• gnomAD v3: 18-44953228-T-A
• gnomAD v4: 18-44953228-T-A
• MyVariant Identifiers: chr18:g.42533193T>A (hg19) ; chr18:g.44953228T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.44953228T>A , CM000680.2:g.44953228T>A	GRCh38
NC_000018.9:g.42533193T>A , CM000680.1:g.42533193T>A	GRCh37
NC_000018.8:g.40787191T>A	NCBI36
NG_027527.1:g.278056T>A
NG_027527.2:g.278056T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649279.2:c.3888T>A MANE Select	ENSP00000497406.1:p.Ser1296Arg
ENST00000677068.1:c.3888T>A	ENSP00000504398.1:p.Ser1296Arg
ENST00000677077.1:c.3888T>A	ENSP00000503656.1:p.Ser1296Arg
ENST00000677130.1:c.3888T>A	ENSP00000503094.1:p.Ser1296Arg
ENST00000677699.1:c.3888T>A	ENSP00000503964.1:p.Ser1296Arg
ENST00000678152.1:c.3888T>A	ENSP00000502995.1:p.Ser1296Arg
ENST00000282030.5:c.3888T>A	ENSP00000282030.5:p.Ser1296Arg
NM_015559.2:c.3888T>A	NP_056374.2:p.Ser1296Arg
XM_005258243.3:c.3888T>A	XP_005258300.1:p.Ser1296Arg
NM_015559.3:c.3888T>A MANE Select	NP_056374.2:p.Ser1296Arg
XM_024451149.1:c.3966T>A	XP_024306917.1:p.Ser1322Arg
XM_024451150.1:c.3966T>A	XP_024306918.1:p.Ser1322Arg
XM_024451151.1:c.3966T>A	XP_024306919.1:p.Ser1322Arg
XM_024451152.1:c.3966T>A	XP_024306920.1:p.Ser1322Arg
XM_024451153.1:c.3888T>A	XP_024306921.1:p.Ser1296Arg
XM_024451154.1:c.3888T>A	XP_024306922.1:p.Ser1296Arg
XM_024451155.1:c.3888T>A	XP_024306923.1:p.Ser1296Arg
XM_024451156.1:c.3966T>A	XP_024306924.1:p.Ser1322Arg
XM_024451157.1:c.3411T>A	XP_024306925.1:p.Ser1137Arg
XM_024451158.1:c.3966T>A	XP_024306926.1:p.Ser1322Arg
NM_001379141.1:c.3888T>A	NP_001366070.1:p.Ser1296Arg
NM_001379142.1:c.3888T>A	NP_001366071.1:p.Ser1296Arg