Canonical Allele Identifier: CA402321823

Gene: SETBP1

Linked Data

• ClinVar Variation Id: 441093
• ClinVar RCV Id: RCV000509340 ; RCV001007402
• dbSNP Id: rs267607038
• MyVariant Identifiers: chr18:g.42531917T>G (hg19) ; chr18:g.44951952T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.44951952T>G , CM000680.2:g.44951952T>G	GRCh38
NC_000018.9:g.42531917T>G , CM000680.1:g.42531917T>G	GRCh37
NC_000018.8:g.40785915T>G	NCBI36
NG_027527.1:g.276780T>G
NG_027527.2:g.276780T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649279.2:c.2612T>G MANE Select	ENSP00000497406.1:p.Ile871Ser
ENST00000677068.1:c.2612T>G	ENSP00000504398.1:p.Ile871Ser
ENST00000677077.1:c.2612T>G	ENSP00000503656.1:p.Ile871Ser
ENST00000677130.1:c.2612T>G	ENSP00000503094.1:p.Ile871Ser
ENST00000677699.1:c.2612T>G	ENSP00000503964.1:p.Ile871Ser
ENST00000678152.1:c.2612T>G	ENSP00000502995.1:p.Ile871Ser
ENST00000282030.5:c.2612T>G	ENSP00000282030.5:p.Ile871Ser
NM_015559.2:c.2612T>G	NP_056374.2:p.Ile871Ser
XM_005258243.3:c.2612T>G	XP_005258300.1:p.Ile871Ser
NM_015559.3:c.2612T>G MANE Select	NP_056374.2:p.Ile871Ser
XM_024451149.1:c.2690T>G	XP_024306917.1:p.Ile897Ser
XM_024451150.1:c.2690T>G	XP_024306918.1:p.Ile897Ser
XM_024451151.1:c.2690T>G	XP_024306919.1:p.Ile897Ser
XM_024451152.1:c.2690T>G	XP_024306920.1:p.Ile897Ser
XM_024451153.1:c.2612T>G	XP_024306921.1:p.Ile871Ser
XM_024451154.1:c.2612T>G	XP_024306922.1:p.Ile871Ser
XM_024451155.1:c.2612T>G	XP_024306923.1:p.Ile871Ser
XM_024451156.1:c.2690T>G	XP_024306924.1:p.Ile897Ser
XM_024451157.1:c.2135T>G	XP_024306925.1:p.Ile712Ser
XM_024451158.1:c.2690T>G	XP_024306926.1:p.Ile897Ser
NM_001379141.1:c.2612T>G	NP_001366070.1:p.Ile871Ser
NM_001379142.1:c.2612T>G	NP_001366071.1:p.Ile871Ser