Revel Score:
ENST00000529202
0.931
ENST00000263182 (MANE Select)
0.931
ENST00000528583
0.931
ENST00000525090
0.931
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27127296A>T , CM000673.2:g.27127296A>T | GRCh38 |
| NC_000011.9:g.27148843A>T , CM000673.1:g.27148843A>T | GRCh37 |
| NC_000011.8:g.27105419A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263182.8:c.1007A>T (BBOX1) MANE Select | ENSP00000263182.3:p.Asp336Val | |
| ENST00000263182.7:c.1007A>T (BBOX1) | ENSP00000263182.3:p.Asp336Val | |
| ENST00000525090.1:c.1007A>T (BBOX1) | ENSP00000433772.1:p.Asp336Val | |
| ENST00000528583.5:c.1007A>T (BBOX1) | ENSP00000434918.1:p.Asp336Val | |
| ENST00000529202.5:c.1007A>T (BBOX1) | ENSP00000435781.1:p.Asp336Val | |
| NM_003986.2:c.1007A>T (BBOX1) | NP_003977.1:p.Asp336Val | |
| NR_125766.1:n.694+23754T>A (BBOX1-AS1) | ||
| NR_125767.1:n.334+23754T>A (BBOX1-AS1) | ||
| NR_125768.1:n.377+23754T>A (BBOX1-AS1) | ||
| XM_005253159.2:c.1007A>T (BBOX1) | XP_005253216.1:p.Asp336Val | |
| XM_005253160.2:c.1007A>T (BBOX1) | XP_005253217.1:p.Asp336Val | |
| XM_005253161.2:c.1007A>T (BBOX1) | XP_005253218.1:p.Asp336Val | |
| XM_011520402.1:c.1007A>T (BBOX1) | XP_011518704.1:p.Asp336Val | |
| XM_011520403.1:c.1007A>T (BBOX1) | XP_011518705.1:p.Asp336Val | |
| XM_017018403.2:c.1007A>T (BBOX1) | XP_016873892.1:p.Asp336Val | |
| NM_003986.3:c.1007A>T (BBOX1) MANE Select | NP_003977.1:p.Asp336Val | |
| NM_001376258.1:c.1007A>T (BBOX1) | NP_001363187.1:p.Asp336Val | |
| NM_001376259.1:c.1007A>T (BBOX1) | NP_001363188.1:p.Asp336Val | |
| NM_001376260.1:c.1007A>T (BBOX1) | NP_001363189.1:p.Asp336Val | |
| NM_001376261.1:c.1007A>T (BBOX1) | NP_001363190.1:p.Asp336Val |