Revel Score:
ENST00000016171 (MANE Select)
0.923
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99714639A>G , CM000672.2:g.99714639A>G | GRCh38 |
| NC_000010.10:g.101474396A>G , CM000672.1:g.101474396A>G | GRCh37 |
| NC_000010.9:g.101464386A>G | NCBI36 |
| NG_008986.1:g.23028T>C , LRG_406:g.23028T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.1181T>C (COX15) MANE Select | ENSP00000016171.6:p.Leu394Ser | |
| ENST00000649102.1:c.*460+1709T>C | ENSP00000497114.1:n.*460+1709T>C | |
| ENST00000016171.5:c.1181T>C (COX15) | ENSP00000016171.5:p.Leu394Ser | |
| ENST00000370483.9:c.1102-1160T>C (COX15) | ENSP00000359514.5:n.1102-1160T>C | |
| ENST00000493385.5:n.117-8279A>G (CUTC) | ||
| NM_004376.5:c.1102-1160T>C , LRG_406t2:c.1102-1160T>C (COX15) | NP_004367.2:n.1102-1160T>C | |
| NM_078470.4:c.1181T>C , LRG_406t1:c.1181T>C (COX15) | NP_510870.1:p.Leu394Ser | |
| XM_005269539.3:c.1101+1709T>C (COX15) | XP_005269596.1:n.1101+1709T>C | |
| XM_006717633.2:c.*129T>C (COX15) | XP_006717696.1:n.*129T>C | |
| XM_006717634.2:c.*49+1709T>C (COX15) | XP_006717697.1:n.*49+1709T>C | |
| XM_011539298.1:c.*50-1160T>C (COX15) | XP_011537600.1:n.*50-1160T>C | |
| NM_001320974.1:c.1101+1709T>C (COX15) | NP_001307903.1:n.1101+1709T>C | |
| NM_001320975.1:c.*129T>C (COX15) | NP_001307904.1:n.*129T>C | |
| NM_001320976.1:c.644T>C (COX15) | NP_001307905.1:p.Leu215Ser | |
| NM_004376.6:c.1102-1160T>C (COX15) | NP_004367.2:n.1102-1160T>C | |
| NM_078470.5:c.1181T>C (COX15) | NP_510870.1:p.Leu394Ser | |
| XM_006717634.3:c.*49+1709T>C (COX15) | XP_006717697.1:n.*49+1709T>C | |
| XM_011539298.2:c.*50-1160T>C (COX15) | XP_011537600.1:n.*50-1160T>C | |
| NM_001320974.2:c.1101+1709T>C (COX15) | NP_001307903.1:n.1101+1709T>C | |
| NM_001320975.2:c.*129T>C (COX15) | NP_001307904.1:n.*129T>C | |
| NM_001320976.2:c.644T>C (COX15) | NP_001307905.1:p.Leu215Ser | |
| NM_001372024.1:c.1102-675T>C (COX15) | NP_001358953.1:n.1102-675T>C | |
| NM_001372025.1:c.1199T>C (COX15) | NP_001358954.1:p.Leu400Ser | |
| NM_001372026.1:c.1154T>C (COX15) | NP_001358955.1:p.Leu385Ser | |
| NM_001372027.1:c.*52T>C (COX15) | NP_001358956.1:n.*52T>C | |
| NM_001372028.1:c.*50-675T>C (COX15) | NP_001358957.1:n.*50-675T>C | |
| NM_004376.7:c.1102-1160T>C (COX15) | NP_004367.2:n.1102-1160T>C | |
| NM_078470.6:c.1181T>C (COX15) MANE Select | NP_510870.1:p.Leu394Ser | |
| NR_164009.1:n.1021T>C (COX15) |