Canonical Allele Identifier: CA114715

Gene: SETBP1

Linked Data

• ClinVar Variation Id: 1031
• ClinVar RCV Id: RCV000001086 ; RCV000255245 ; RCV000855501 ; RCV001007919 ; RCV003894780
• dbSNP Id: rs267607038
• gnomAD v2: 18-42531917-T-C
• gnomAD v4: 18-44951952-T-C
• COSMIC: COSM1685364
• MyVariant Identifiers: chr18:g.42531917T>C (hg19) ; chr18:g.44951952T>C (hg38)
• PubMed: PMID:20436468

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000649279.2:c.2612T>C MANE Select	ENSP00000497406.1:p.Ile871Thr
ENST00000677068.1:c.2612T>C	ENSP00000504398.1:p.Ile871Thr
ENST00000677077.1:c.2612T>C	ENSP00000503656.1:p.Ile871Thr
ENST00000677130.1:c.2612T>C	ENSP00000503094.1:p.Ile871Thr
ENST00000677699.1:c.2612T>C	ENSP00000503964.1:p.Ile871Thr
ENST00000678152.1:c.2612T>C	ENSP00000502995.1:p.Ile871Thr
ENST00000282030.5:c.2612T>C	ENSP00000282030.5:p.Ile871Thr
NM_015559.2:c.2612T>C	NP_056374.2:p.Ile871Thr
XM_005258243.3:c.2612T>C	XP_005258300.1:p.Ile871Thr
NM_015559.3:c.2612T>C MANE Select	NP_056374.2:p.Ile871Thr
XM_024451149.1:c.2690T>C	XP_024306917.1:p.Ile897Thr
XM_024451150.1:c.2690T>C	XP_024306918.1:p.Ile897Thr
XM_024451151.1:c.2690T>C	XP_024306919.1:p.Ile897Thr
XM_024451152.1:c.2690T>C	XP_024306920.1:p.Ile897Thr
XM_024451153.1:c.2612T>C	XP_024306921.1:p.Ile871Thr
XM_024451154.1:c.2612T>C	XP_024306922.1:p.Ile871Thr
XM_024451155.1:c.2612T>C	XP_024306923.1:p.Ile871Thr
XM_024451156.1:c.2690T>C	XP_024306924.1:p.Ile897Thr
XM_024451157.1:c.2135T>C	XP_024306925.1:p.Ile712Thr
XM_024451158.1:c.2690T>C	XP_024306926.1:p.Ile897Thr
NM_001379141.1:c.2612T>C	NP_001366070.1:p.Ile871Thr
NM_001379142.1:c.2612T>C	NP_001366071.1:p.Ile871Thr