Revel Score:
ENST00000536101
0.122
ENST00000335473 (MANE Select)
0.122
ENST00000407587
0.122
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07683547 (AFR)
Genomes Max Group AF
0.07551329 (AFR)
Exomes Max Group AF
0.07693778 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25890771T>A , CM000684.2:g.25890771T>A | GRCh38 |
| NC_000022.10:g.26286738T>A , CM000684.1:g.26286738T>A | GRCh37 |
| NC_000022.9:g.24616738T>A | NCBI36 |
| NG_046772.1:g.153628T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335473.12:c.4330T>A (MYO18B) MANE Select | ENSP00000334563.8:p.Ser1444Thr | |
| ENST00000335473.11:c.4330T>A (MYO18B) | ENSP00000334563.7:p.Ser1444Thr | |
| ENST00000407587.6:c.4333T>A (MYO18B) | ENSP00000386096.2:p.Ser1445Thr | |
| ENST00000418374.6:n.2901T>A (MYO18B) | ||
| ENST00000536101.5:c.4330T>A (MYO18B) | ENSP00000441229.1:p.Ser1444Thr | |
| ENST00000539302.5:c.*1788T>A (MYO18B) | ENSP00000437587.1:n.*1788T>A | |
| NM_032608.5:c.4330T>A (MYO18B) | NP_115997.5:p.Ser1444Thr | |
| XM_005261786.3:c.4333T>A (MYO18B) | XP_005261843.1:p.Ser1445Thr | |
| XM_011530458.1:c.4459T>A (MYO18B) | XP_011528760.1:p.Ser1487Thr | |
| XM_011530459.1:c.4459T>A (MYO18B) | XP_011528761.1:p.Ser1487Thr | |
| XM_011530460.1:c.4459T>A (MYO18B) | XP_011528762.1:p.Ser1487Thr | |
| XM_011530461.1:c.4459T>A (MYO18B) | XP_011528763.1:p.Ser1487Thr | |
| XM_011530462.1:c.4459T>A (MYO18B) | XP_011528764.1:p.Ser1487Thr | |
| XM_011530463.1:c.4459T>A (MYO18B) | XP_011528765.1:p.Ser1487Thr | |
| XM_011530464.1:c.4456T>A (MYO18B) | XP_011528766.1:p.Ser1486Thr | |
| XM_011530465.1:c.3976T>A (MYO18B) | XP_011528767.1:p.Ser1326Thr | |
| XM_011530466.1:c.4459T>A (MYO18B) | XP_011528768.1:p.Ser1487Thr | |
| XR_938085.1:n.1626+1456A>T (MYO18B-AS1) | ||
| XR_938086.1:n.1719+1456A>T (MYO18B-AS1) | ||
| XR_938087.1:n.1334+1456A>T (MYO18B-AS1) | ||
| NM_001318245.1:c.4333T>A (MYO18B) | NP_001305174.1:p.Ser1445Thr | |
| NM_032608.6:c.4330T>A (MYO18B) | NP_115997.5:p.Ser1444Thr | |
| XM_011530458.2:c.4459T>A (MYO18B) | XP_011528760.1:p.Ser1487Thr | |
| XM_011530459.2:c.4459T>A (MYO18B) | XP_011528761.1:p.Ser1487Thr | |
| XM_011530460.2:c.4459T>A (MYO18B) | XP_011528762.1:p.Ser1487Thr | |
| XM_011530461.2:c.4459T>A (MYO18B) | XP_011528763.1:p.Ser1487Thr | |
| XM_011530464.2:c.4456T>A (MYO18B) | XP_011528766.1:p.Ser1486Thr | |
| XM_011530465.2:c.3976T>A (MYO18B) | XP_011528767.1:p.Ser1326Thr | |
| XM_011530466.2:c.4459T>A (MYO18B) | XP_011528768.1:p.Ser1487Thr | |
| XM_017029012.1:c.4459T>A (MYO18B) | XP_016884501.1:p.Ser1487Thr | |
| XM_017029013.1:c.4459T>A (MYO18B) | XP_016884502.1:p.Ser1487Thr | |
| XM_017029014.1:c.4459T>A (MYO18B) | XP_016884503.1:p.Ser1487Thr | |
| XM_017029015.1:c.4330T>A (MYO18B) | XP_016884504.1:p.Ser1444Thr | |
| XM_017029016.1:c.1795T>A (MYO18B) | XP_016884505.1:p.Ser599Thr | |
| XM_017029017.1:c.1792T>A (MYO18B) | XP_016884506.1:p.Ser598Thr | |
| XR_938086.2:n.2225+1456A>T (MYO18B-AS1) | ||
| NM_001318245.2:c.4333T>A (MYO18B) | NP_001305174.1:p.Ser1445Thr | |
| NM_032608.7:c.4330T>A (MYO18B) MANE Select | NP_115997.5:p.Ser1444Thr |