Canonical Allele Identifier: CA114719
Gene: SETBP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1035
dbSNP Id: rs267607040

User contributed link-outs

Civic: CA114719

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.44951948G>A , CM000680.2:g.44951948G>A GRCh38
NC_000018.9:g.42531913G>A , CM000680.1:g.42531913G>A GRCh37
NC_000018.8:g.40785911G>A NCBI36
NG_027527.1:g.276776G>A
NG_027527.2:g.276776G>A

Transcript Alleles

HGVS Amino-acid change
NM_015559.2:c.2608G>A VV NP_056374.2:p.Gly870Ser
XM_005258243.3:c.2608G>A XP_005258300.1:p.Gly870Ser
NM_015559.3:c.2608G>A VV
XM_024451149.1:c.2686G>A XP_024306917.1:p.Gly896Ser
XM_024451150.1:c.2686G>A XP_024306918.1:p.Gly896Ser
XM_024451151.1:c.2686G>A XP_024306919.1:p.Gly896Ser
XM_024451152.1:c.2686G>A XP_024306920.1:p.Gly896Ser
XM_024451153.1:c.2608G>A XP_024306921.1:p.Gly870Ser
XM_024451154.1:c.2608G>A XP_024306922.1:p.Gly870Ser
XM_024451155.1:c.2608G>A XP_024306923.1:p.Gly870Ser
XM_024451156.1:c.2686G>A XP_024306924.1:p.Gly896Ser
XM_024451157.1:c.2131G>A XP_024306925.1:p.Gly711Ser
XM_024451158.1:c.2686G>A XP_024306926.1:p.Gly896Ser
ENST00000282030.5:c.2608G>A ENSP00000282030.5:p.Gly870Ser