Canonical Allele Identifier: CA173413

Gene: SETBP1

Linked Data

• ClinVar Variation Id: 159884
• ClinVar RCV Id: RCV000147471 ; RCV001610450 ; RCV003315936
• dbSNP Id: rs663651
• ExAC: 18:42456653 G / A
• gnomAD v2: 18-42456653-G-A
• gnomAD v3: 18-44876688-G-A
• gnomAD v4: 18-44876688-G-A
• MyVariant Identifiers: chr18:g.42456653G>A (hg19) ; chr18:g.44876688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.44876688G>A , CM000680.2:g.44876688G>A	GRCh38
NC_000018.9:g.42456653G>A , CM000680.1:g.42456653G>A	GRCh37
NC_000018.8:g.40710651G>A	NCBI36
NG_027527.1:g.201516G>A
NG_027527.2:g.201516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649279.2:c.540+7405G>A MANE Select	ENSP00000497406.1:n.540+7405G>A
ENST00000677068.1:c.540+7405G>A	ENSP00000504398.1:n.540+7405G>A
ENST00000677077.1:c.540+7405G>A	ENSP00000503656.1:n.540+7405G>A
ENST00000677130.1:c.540+7405G>A	ENSP00000503094.1:n.540+7405G>A
ENST00000677699.1:c.540+7405G>A	ENSP00000503964.1:n.540+7405G>A
ENST00000678152.1:c.540+7405G>A	ENSP00000502995.1:n.540+7405G>A
ENST00000282030.5:c.540+7405G>A	ENSP00000282030.5:n.540+7405G>A
ENST00000426838.8:c.664G>A	ENSP00000390687.3:p.Ala222Thr
NM_001130110.1:c.664G>A	NP_001123582.1:p.Ala222Thr
NM_015559.2:c.540+7405G>A	NP_056374.2:n.540+7405G>A
XM_005258243.3:c.540+7405G>A	XP_005258300.1:n.540+7405G>A
NM_015559.3:c.540+7405G>A MANE Select	NP_056374.2:n.540+7405G>A
XM_024451149.1:c.618+7405G>A	XP_024306917.1:n.618+7405G>A
XM_024451150.1:c.618+7405G>A	XP_024306918.1:n.618+7405G>A
XM_024451151.1:c.618+7405G>A	XP_024306919.1:n.618+7405G>A
XM_024451152.1:c.618+7405G>A	XP_024306920.1:n.618+7405G>A
XM_024451153.1:c.540+7405G>A	XP_024306921.1:n.540+7405G>A
XM_024451154.1:c.540+7405G>A	XP_024306922.1:n.540+7405G>A
XM_024451155.1:c.540+7405G>A	XP_024306923.1:n.540+7405G>A
XM_024451156.1:c.618+7405G>A	XP_024306924.1:n.618+7405G>A
XM_024451157.1:c.63+7405G>A	XP_024306925.1:n.63+7405G>A
XM_024451158.1:c.618+7405G>A	XP_024306926.1:n.618+7405G>A
NM_001130110.2:c.664G>A	NP_001123582.1:p.Ala222Thr
NM_001379141.1:c.540+7405G>A	NP_001366070.1:n.540+7405G>A
NM_001379142.1:c.540+7405G>A	NP_001366071.1:n.540+7405G>A