Revel Score:
ENST00000530908
0.182
ENST00000290349 (MANE Select)
0.182
ENST00000439427
0.182
ENST00000399191
0.182
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36070377G>C , CM000683.2:g.36070377G>C | GRCh38 |
| NC_000021.8:g.37442675G>C , CM000683.1:g.37442675G>C | GRCh37 |
| NC_000021.7:g.36364545G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290349.11:c.262G>C (CBR1) MANE Select | ENSP00000290349.6:p.Val88Leu | |
| ENST00000290349.10:c.262G>C (CBR1) | ENSP00000290349.6:p.Val88Leu | |
| ENST00000399191.3:c.262G>C (CBR1) | ENSP00000382143.3:p.Val88Leu | |
| ENST00000399201.5:c.-203+8928C>G (SETD4) | ENSP00000382152.1:n.-203+8928C>G | |
| ENST00000439427.2:c.262G>C (CBR1) | ENSP00000395132.2:p.Val88Leu | |
| ENST00000466328.2:n.437G>C (CBR1) | ||
| ENST00000530908.5:c.262G>C (CBR1) | ENSP00000434613.1:p.Val88Leu | |
| NM_001286789.1:c.262G>C (CBR1) | NP_001273718.1:p.Val88Leu | |
| NM_001757.3:c.262G>C (CBR1) | NP_001748.1:p.Val88Leu | |
| NR_040084.1:n.486C>G (CBR1-AS1) | ||
| NM_001757.4:c.262G>C (CBR1) MANE Select | NP_001748.1:p.Val88Leu | |
| NM_001286789.2:c.262G>C (CBR1) | NP_001273718.1:p.Val88Leu |