Revel Score:
ENST00000287598 (MANE Select)
0.242
ENST00000412359
0.242
ENST00000442874
0.242
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40217608C>T , CM000677.2:g.40217608C>T | GRCh38 |
| NC_000015.9:g.40509809C>T , CM000677.1:g.40509809C>T | GRCh37 |
| NC_000015.8:g.38297101C>T | NCBI36 |
| NG_016338.1:g.61600C>T , LRG_489:g.61600C>T | |
| NG_033169.1:g.5181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.2791C>T (BUB1B) MANE Select | ENSP00000287598.7:p.Arg931Trp | |
| ENST00000453867.7:c.-177C>T (PAK6) | ENSP00000401153.3:n.-177C>T | |
| ENST00000558658.6:c.-260C>T (PAK6) | ENSP00000456785.2:n.-260C>T | |
| ENST00000287598.10:c.2791C>T (BUB1B) | ENSP00000287598.6:p.Arg931Trp | |
| ENST00000412359.7:c.2833C>T (BUB1B) | ENSP00000398470.3:p.Arg945Trp | |
| ENST00000441369.6:c.-260C>T (BUB1B-PAK6) | ENSP00000406873.1:n.-260C>T | |
| ENST00000453867.6:c.24C>T (BUB1B-PAK6) | ENSP00000401153.2:p.Phe8= | |
| ENST00000558151.1:n.192C>T (BUB1B) | ||
| ENST00000558658.5:c.22C>T (BUB1B-PAK6) | ENSP00000456785.1:p.Arg8Trp | |
| NM_001128628.2:c.-260C>T (PAK6) | NP_001122100.1:n.-260C>T | |
| NM_001128629.2:c.-177C>T (PAK6) | NP_001122101.1:n.-177C>T | |
| NM_001211.5:c.2791C>T , LRG_489t1:c.2791C>T (BUB1B) | NP_001202.4:p.Arg931Trp | |
| XR_001751506.1:n.217+21877G>A | ||
| NM_001128629.3:c.-177C>T (BUB1B-PAK6) | NP_001122101.1:n.-177C>T | |
| NM_001211.6:c.2791C>T (BUB1B) MANE Select | NP_001202.5:p.Arg931Trp | |
| NM_001128628.3:c.-260C>T (BUB1B-PAK6) | NP_001122100.1:n.-260C>T |