Canonical Allele Identifier: CA8945403

Gene: SETBP1

Linked Data

• ClinVar Variation Id: 429524
• ClinVar RCV Id: RCV000494550 ; RCV001706646
• dbSNP Id: rs147805077
• ExAC: 18:42449194 G / A
• gnomAD v2: 18-42449194-G-A
• gnomAD v3: 18-44869229-G-A
• gnomAD v4: 18-44869229-G-A
• MyVariant Identifiers: chr18:g.42449194G>A (hg19) ; chr18:g.44869229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.44869229G>A , CM000680.2:g.44869229G>A	GRCh38
NC_000018.9:g.42449194G>A , CM000680.1:g.42449194G>A	GRCh37
NC_000018.8:g.40703192G>A	NCBI36
NG_027527.1:g.194057G>A
NG_027527.2:g.194057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645568.1:c.487-1G>A	ENSP00000496513.1:n.487-1G>A
ENST00000649279.2:c.487-1G>A MANE Select	ENSP00000497406.1:n.487-1G>A
ENST00000677068.1:c.487-1G>A	ENSP00000504398.1:n.487-1G>A
ENST00000677077.1:c.487-1G>A	ENSP00000503656.1:n.487-1G>A
ENST00000677130.1:c.487-1G>A	ENSP00000503094.1:n.487-1G>A
ENST00000677699.1:c.487-1G>A	ENSP00000503964.1:n.487-1G>A
ENST00000678152.1:c.487-1G>A	ENSP00000502995.1:n.487-1G>A
ENST00000282030.5:c.487-1G>A	ENSP00000282030.5:n.487-1G>A
ENST00000426838.8:c.487-1G>A	ENSP00000390687.3:n.487-1G>A
NM_001130110.1:c.487-1G>A	NP_001123582.1:n.487-1G>A
NM_015559.2:c.487-1G>A	NP_056374.2:n.487-1G>A
XM_005258243.3:c.487-1G>A	XP_005258300.1:n.487-1G>A
NM_015559.3:c.487-1G>A MANE Select	NP_056374.2:n.487-1G>A
XM_024451149.1:c.565-1G>A	XP_024306917.1:n.565-1G>A
XM_024451150.1:c.565-1G>A	XP_024306918.1:n.565-1G>A
XM_024451151.1:c.565-1G>A	XP_024306919.1:n.565-1G>A
XM_024451152.1:c.565-1G>A	XP_024306920.1:n.565-1G>A
XM_024451153.1:c.487-1G>A	XP_024306921.1:n.487-1G>A
XM_024451154.1:c.487-1G>A	XP_024306922.1:n.487-1G>A
XM_024451155.1:c.487-1G>A	XP_024306923.1:n.487-1G>A
XM_024451156.1:c.565-1G>A	XP_024306924.1:n.565-1G>A
XM_024451157.1:c.10-1G>A	XP_024306925.1:n.10-1G>A
XM_024451158.1:c.565-1G>A	XP_024306926.1:n.565-1G>A
NM_001130110.2:c.487-1G>A	NP_001123582.1:n.487-1G>A
NM_001379141.1:c.487-1G>A	NP_001366070.1:n.487-1G>A
NM_001379142.1:c.487-1G>A	NP_001366071.1:n.487-1G>A