COSMIC:
COSM4986782 (not active)
Revel Score:
ENST00000530908
0.228
ENST00000290349 (MANE Select)
0.228
ENST00000439427
0.228
ENST00000399191
0.228
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00352184 (NFE)
Genomes Max Group AF
0.00330321 (NFE)
Exomes Max Group AF
0.00351508 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36071051C>T , CM000683.2:g.36071051C>T | GRCh38 |
| NC_000021.8:g.37443349C>T , CM000683.1:g.37443349C>T | GRCh37 |
| NC_000021.7:g.36365219C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290349.11:c.391C>T (CBR1) MANE Select | ENSP00000290349.6:p.Pro131Ser | |
| ENST00000290349.10:c.391C>T (CBR1) | ENSP00000290349.6:p.Pro131Ser | |
| ENST00000399191.3:c.391C>T (CBR1) | ENSP00000382143.3:p.Pro131Ser | |
| ENST00000399201.5:c.-203+8254G>A (SETD4) | ENSP00000382152.1:n.-203+8254G>A | |
| ENST00000439427.2:c.391C>T (CBR1) | ENSP00000395132.2:p.Pro131Ser | |
| ENST00000466328.2:n.566C>T (CBR1) | ||
| ENST00000530908.5:c.391C>T (CBR1) | ENSP00000434613.1:p.Pro131Ser | |
| NM_001286789.1:c.391C>T (CBR1) | NP_001273718.1:p.Pro131Ser | |
| NM_001757.3:c.391C>T (CBR1) | NP_001748.1:p.Pro131Ser | |
| NR_040084.1:n.378-566G>A (CBR1-AS1) | ||
| NM_001757.4:c.391C>T (CBR1) MANE Select | NP_001748.1:p.Pro131Ser | |
| NM_001286789.2:c.391C>T (CBR1) | NP_001273718.1:p.Pro131Ser |