Canonical Allele Identifier: CA402325102
Gene: SETBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.44953088G>T , CM000680.2:g.44953088G>T GRCh38
NC_000018.9:g.42533053G>T , CM000680.1:g.42533053G>T GRCh37
NC_000018.8:g.40787051G>T NCBI36
NG_027527.1:g.277916G>T
NG_027527.2:g.277916G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649279.2:c.3748G>T MANE Select ENSP00000497406.1:p.Asp1250Tyr
ENST00000677068.1:c.3748G>T ENSP00000504398.1:p.Asp1250Tyr
ENST00000677077.1:c.3748G>T ENSP00000503656.1:p.Asp1250Tyr
ENST00000677130.1:c.3748G>T ENSP00000503094.1:p.Asp1250Tyr
ENST00000677699.1:c.3748G>T ENSP00000503964.1:p.Asp1250Tyr
ENST00000678152.1:c.3748G>T ENSP00000502995.1:p.Asp1250Tyr
ENST00000282030.5:c.3748G>T ENSP00000282030.5:p.Asp1250Tyr
NM_015559.2:c.3748G>T NP_056374.2:p.Asp1250Tyr
XM_005258243.3:c.3748G>T XP_005258300.1:p.Asp1250Tyr
NM_015559.3:c.3748G>T MANE Select NP_056374.2:p.Asp1250Tyr
XM_024451149.1:c.3826G>T XP_024306917.1:p.Asp1276Tyr
XM_024451150.1:c.3826G>T XP_024306918.1:p.Asp1276Tyr
XM_024451151.1:c.3826G>T XP_024306919.1:p.Asp1276Tyr
XM_024451152.1:c.3826G>T XP_024306920.1:p.Asp1276Tyr
XM_024451153.1:c.3748G>T XP_024306921.1:p.Asp1250Tyr
XM_024451154.1:c.3748G>T XP_024306922.1:p.Asp1250Tyr
XM_024451155.1:c.3748G>T XP_024306923.1:p.Asp1250Tyr
XM_024451156.1:c.3826G>T XP_024306924.1:p.Asp1276Tyr
XM_024451157.1:c.3271G>T XP_024306925.1:p.Asp1091Tyr
XM_024451158.1:c.3826G>T XP_024306926.1:p.Asp1276Tyr
NM_001379141.1:c.3748G>T NP_001366070.1:p.Asp1250Tyr
NM_001379142.1:c.3748G>T NP_001366071.1:p.Asp1250Tyr