Canonical Allele Identifier: CA8945972

Gene: SETBP1

Linked Data

• dbSNP Id: rs753405820
• ExAC: 18:42533041 A / G
• gnomAD v2: 18-42533041-A-G
• gnomAD v3: 18-44953076-A-G
• gnomAD v4: 18-44953076-A-G
• MyVariant Identifiers: chr18:g.42533041A>G (hg19) ; chr18:g.44953076A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.44953076A>G , CM000680.2:g.44953076A>G	GRCh38
NC_000018.9:g.42533041A>G , CM000680.1:g.42533041A>G	GRCh37
NC_000018.8:g.40787039A>G	NCBI36
NG_027527.1:g.277904A>G
NG_027527.2:g.277904A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649279.2:c.3736A>G MANE Select	ENSP00000497406.1:p.Lys1246Glu
ENST00000677068.1:c.3736A>G	ENSP00000504398.1:p.Lys1246Glu
ENST00000677077.1:c.3736A>G	ENSP00000503656.1:p.Lys1246Glu
ENST00000677130.1:c.3736A>G	ENSP00000503094.1:p.Lys1246Glu
ENST00000677699.1:c.3736A>G	ENSP00000503964.1:p.Lys1246Glu
ENST00000678152.1:c.3736A>G	ENSP00000502995.1:p.Lys1246Glu
ENST00000282030.5:c.3736A>G	ENSP00000282030.5:p.Lys1246Glu
NM_015559.2:c.3736A>G	NP_056374.2:p.Lys1246Glu
XM_005258243.3:c.3736A>G	XP_005258300.1:p.Lys1246Glu
NM_015559.3:c.3736A>G MANE Select	NP_056374.2:p.Lys1246Glu
XM_024451149.1:c.3814A>G	XP_024306917.1:p.Lys1272Glu
XM_024451150.1:c.3814A>G	XP_024306918.1:p.Lys1272Glu
XM_024451151.1:c.3814A>G	XP_024306919.1:p.Lys1272Glu
XM_024451152.1:c.3814A>G	XP_024306920.1:p.Lys1272Glu
XM_024451153.1:c.3736A>G	XP_024306921.1:p.Lys1246Glu
XM_024451154.1:c.3736A>G	XP_024306922.1:p.Lys1246Glu
XM_024451155.1:c.3736A>G	XP_024306923.1:p.Lys1246Glu
XM_024451156.1:c.3814A>G	XP_024306924.1:p.Lys1272Glu
XM_024451157.1:c.3259A>G	XP_024306925.1:p.Lys1087Glu
XM_024451158.1:c.3814A>G	XP_024306926.1:p.Lys1272Glu
NM_001379141.1:c.3736A>G	NP_001366070.1:p.Lys1246Glu
NM_001379142.1:c.3736A>G	NP_001366071.1:p.Lys1246Glu