Canonical Allele Identifier: CA10576090
Gene: CTBP1 HGNC NCBI
CTBP1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 225758
dbSNP Id: rs869320802

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1213028G>A , CM000666.2:g.1213028G>A GRCh38
NC_000004.11:g.1206816G>A , CM000666.1:g.1206816G>A GRCh37
NC_000004.10:g.1196816G>A NCBI36
NG_052824.1:g.42302C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000503594.6:c.991C>T (CTBP1) ENSP00000422148.2:p.Arg331Trp
ENST00000703138.1:c.991C>T (CTBP1) ENSP00000515195.1:p.Arg331Trp
ENST00000703163.1:c.991C>T (CTBP1) ENSP00000515211.1:p.Arg331Trp
ENST00000703164.1:c.991C>T (CTBP1) ENSP00000515212.1:p.Arg331Trp
ENST00000703165.1:c.991C>T (CTBP1) ENSP00000515213.1:p.Arg331Trp
ENST00000382952.8:c.991C>T (CTBP1) MANE Select ENSP00000372411.3:p.Arg331Trp
ENST00000290921.10:c.1024C>T (CTBP1) ENSP00000290921.6:p.Arg342Trp
ENST00000382950.8:n.280C>T (CTBP1)
ENST00000382952.7:c.991C>T (CTBP1) ENSP00000372411.3:p.Arg331Trp
ENST00000503594.5:c.251C>T (CTBP1)
ENST00000504092.5:c.563C>T (CTBP1)
ENST00000510739.1:c.659C>T (CTBP1)
ENST00000514596.1:n.23C>T (CTBP1)
NM_001012614.1:c.991C>T (CTBP1) NP_001012632.1:p.Arg331Trp
NM_001328.2:c.1024C>T (CTBP1) NP_001319.1:p.Arg342Trp
NR_104331.1:n.1108+258G>A (CTBP1-AS)
XM_005272261.2:c.1024C>T (CTBP1) XP_005272318.1:p.Arg342Trp
XM_005272263.3:c.991C>T (CTBP1) XP_005272320.1:p.Arg331Trp
XM_011513395.1:c.991C>T (CTBP1) XP_011511697.1:p.Arg331Trp
XM_011513396.1:c.991C>T (CTBP1) XP_011511698.1:p.Arg331Trp
XM_011513397.1:c.802C>T (CTBP1) XP_011511699.1:p.Arg268Trp
XM_005272261.3:c.1024C>T (CTBP1) XP_005272318.1:p.Arg342Trp
XM_005272263.5:c.991C>T (CTBP1) XP_005272320.1:p.Arg331Trp
XM_011513395.3:c.991C>T (CTBP1) XP_011511697.1:p.Arg331Trp
XM_011513396.3:c.991C>T (CTBP1) XP_011511698.1:p.Arg331Trp
XM_017007762.2:c.991C>T (CTBP1) XP_016863251.1:p.Arg331Trp
XM_017007763.2:c.991C>T (CTBP1) XP_016863252.1:p.Arg331Trp
XM_017007764.1:c.991C>T (CTBP1) XP_016863253.1:p.Arg331Trp
XM_017007765.2:c.991C>T (CTBP1) XP_016863254.1:p.Arg331Trp
XM_017007766.2:c.991C>T (CTBP1) XP_016863255.1:p.Arg331Trp
XM_017007767.2:c.991C>T (CTBP1) XP_016863256.1:p.Arg331Trp
XM_024453899.1:c.802C>T (CTBP1) XP_024309667.1:p.Arg268Trp
NM_001012614.2:c.991C>T (CTBP1) MANE Select NP_001012632.1:p.Arg331Trp
NM_001328.3:c.1024C>T (CTBP1) NP_001319.1:p.Arg342Trp
NM_001377186.1:c.1024C>T (CTBP1) NP_001364115.1:p.Arg342Trp
NM_001377187.1:c.991C>T (CTBP1) NP_001364116.1:p.Arg331Trp
NM_001377188.1:c.991C>T (CTBP1) NP_001364117.1:p.Arg331Trp
NM_001377189.1:c.991C>T (CTBP1) NP_001364118.1:p.Arg331Trp
NM_001377190.1:c.991C>T (CTBP1) NP_001364119.1:p.Arg331Trp
NM_001377191.1:c.991C>T (CTBP1) NP_001364120.1:p.Arg331Trp
NM_001377192.1:c.991C>T (CTBP1) NP_001364121.1:p.Arg331Trp
NM_001377193.1:c.991C>T (CTBP1) NP_001364122.1:p.Arg331Trp