Revel Score:
ENST00000287598 (MANE Select)
0.241
ENST00000412359
0.241
ENST00000442874
0.241
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025275 (NFE)
Genomes Max Group AF
0.00043067 (NFE)
Exomes Max Group AF
0.00023494 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40217580G>C , CM000677.2:g.40217580G>C | GRCh38 |
| NC_000015.9:g.40509781G>C , CM000677.1:g.40509781G>C | GRCh37 |
| NC_000015.8:g.38297073G>C | NCBI36 |
| NG_016338.1:g.61572G>C , LRG_489:g.61572G>C | |
| NG_033169.1:g.5153G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.2763G>C (BUB1B) MANE Select | ENSP00000287598.7:p.Gln921His | |
| ENST00000453867.7:c.-205G>C (PAK6) | ENSP00000401153.3:n.-205G>C | |
| ENST00000287598.10:c.2763G>C (BUB1B) | ENSP00000287598.6:p.Gln921His | |
| ENST00000412359.7:c.2805G>C (BUB1B) | ENSP00000398470.3:p.Gln935His | |
| ENST00000441369.6:c.-288G>C (BUB1B-PAK6) | ENSP00000406873.1:n.-288G>C | |
| ENST00000453867.6:c.-5G>C (BUB1B-PAK6) | ENSP00000401153.2:n.-5G>C | |
| ENST00000558151.1:n.164G>C (BUB1B) | ||
| NM_001128628.2:c.-288G>C (PAK6) | NP_001122100.1:n.-288G>C | |
| NM_001128629.2:c.-205G>C (PAK6) | NP_001122101.1:n.-205G>C | |
| NM_001211.5:c.2763G>C , LRG_489t1:c.2763G>C (BUB1B) | NP_001202.4:p.Gln921His | |
| XR_001751506.1:n.217+21905C>G | ||
| NM_001128629.3:c.-205G>C (BUB1B-PAK6) | NP_001122101.1:n.-205G>C | |
| NM_001211.6:c.2763G>C (BUB1B) MANE Select | NP_001202.5:p.Gln921His | |
| NM_001128628.3:c.-288G>C (BUB1B-PAK6) | NP_001122100.1:n.-288G>C |