Canonical Allele Identifier: CA355956846
Community Standard Title: NM_001012614.2(CTBP1):c.249C>G (p.Ile83Met)
Gene: CTBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1228257G>C , CM000666.2:g.1228257G>C GRCh38
NC_000004.11:g.1222045G>C , CM000666.1:g.1222045G>C GRCh37
NC_000004.10:g.1212045G>C NCBI36
NG_052824.1:g.27073C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001012614.2:c.249C>G MANE Select NP_001012632.1:p.Ile83Met
ENST00000382952.8:c.249C>G MANE Select ENSP00000372411.3:p.Ile83Met
NM_001012614.1:c.249C>G NP_001012632.1:p.Ile83Met
NM_001328.2:c.282C>G NP_001319.1:p.Ile94Met
NM_001328.3:c.282C>G NP_001319.1:p.Ile94Met
NM_001377186.1:c.282C>G NP_001364115.1:p.Ile94Met
NM_001377187.1:c.249C>G NP_001364116.1:p.Ile83Met
NM_001377188.1:c.249C>G NP_001364117.1:p.Ile83Met
NM_001377189.1:c.249C>G NP_001364118.1:p.Ile83Met
NM_001377190.1:c.249C>G NP_001364119.1:p.Ile83Met
NM_001377191.1:c.249C>G NP_001364120.1:p.Ile83Met
NM_001377192.1:c.249C>G NP_001364121.1:p.Ile83Met
NM_001377193.1:c.249C>G NP_001364122.1:p.Ile83Met
ENST00000290921.10:c.282C>G ENSP00000290921.6:p.Ile94Met
ENST00000382952.7:c.249C>G ENSP00000372411.3:p.Ile83Met
ENST00000503594.6:c.249C>G ENSP00000422148.2:p.Ile83Met
ENST00000504092.5:c.28C>G
ENST00000505826.5:n.124C>G
ENST00000506180.5:c.264C>G ENSP00000424684.1:p.Ile88Met
ENST00000513420.1:c.249C>G ENSP00000420983.1:p.Ile83Met
ENST00000514210.5:c.249C>G ENSP00000426470.1:p.Ile83Met
ENST00000514495.1:n.290C>G
ENST00000514669.5:n.424C>G
ENST00000515399.5:c.249C>G ENSP00000425053.1:p.Ile83Met
ENST00000703138.1:c.249C>G ENSP00000515195.1:p.Ile83Met
ENST00000703163.1:c.249C>G ENSP00000515211.1:p.Ile83Met
ENST00000703164.1:c.249C>G ENSP00000515212.1:p.Ile83Met
ENST00000703165.1:c.249C>G ENSP00000515213.1:p.Ile83Met
XM_005272261.2:c.282C>G XP_005272318.1:p.Ile94Met
XM_005272261.3:c.282C>G XP_005272318.1:p.Ile94Met
XM_005272263.3:c.249C>G XP_005272320.1:p.Ile83Met
XM_005272263.5:c.249C>G XP_005272320.1:p.Ile83Met
XM_011513395.1:c.249C>G XP_011511697.1:p.Ile83Met
XM_011513395.3:c.249C>G XP_011511697.1:p.Ile83Met
XM_011513396.1:c.249C>G XP_011511698.1:p.Ile83Met
XM_011513396.3:c.249C>G XP_011511698.1:p.Ile83Met
XM_011513397.1:c.60C>G XP_011511699.1:p.Ile20Met
XM_017007762.2:c.249C>G XP_016863251.1:p.Ile83Met
XM_017007763.2:c.249C>G XP_016863252.1:p.Ile83Met
XM_017007764.1:c.249C>G XP_016863253.1:p.Ile83Met
XM_017007765.2:c.249C>G XP_016863254.1:p.Ile83Met
XM_017007766.2:c.249C>G XP_016863255.1:p.Ile83Met
XM_017007767.2:c.249C>G XP_016863256.1:p.Ile83Met
XM_024453899.1:c.60C>G XP_024309667.1:p.Ile20Met