New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.

This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

This migration is underway but taking longer than originally estimated.

HGVS | Genome Assembly |
---|---|

NC_000003.12:g.193618791G>T , CM000665.2:g.193618791G>T | GRCh38 |

NC_000003.11:g.193336580G>T , CM000665.1:g.193336580G>T | GRCh37 |

NC_000003.10:g.194819274G>T | NCBI36 |

NG_011605.1:g.30648G>T , LRG_337:g.30648G>T |

HGVS | Amino-acid Change | |
---|---|---|

ENST00000361510.8:c.611-78G>T (OPA1) MANE Select | ENSP00000355324.2:n.611-78G>T | |

ENST00000361828.7:c.557-78G>T (OPA1) | ENSP00000354429.3:n.557-78G>T | |

ENST00000361908.8:c.557-78G>T (OPA1) | ENSP00000354681.3:n.557-78G>T | |

ENST00000392436.7:c.557-78G>T (OPA1) | ENSP00000376231.3:n.557-78G>T | |

ENST00000392437.6:c.611-78G>T (OPA1) | ENSP00000376232.2:n.611-78G>T | |

ENST00000434811.2:c.319G>T (OPA1) | ||

ENST00000642289.1:c.574G>T (OPA1) | ||

ENST00000642445.1:c.557-78G>T (OPA1) | ENSP00000495535.1:n.557-78G>T | |

ENST00000642593.1:c.557-78G>T (OPA1) | ENSP00000494273.1:n.557-78G>T | |

ENST00000643329.1:c.239-78G>T (OPA1) | ENSP00000493673.1:n.239-78G>T | |

ENST00000643737.1:c.*638-78G>T (OPA1) | ENSP00000494210.1:n.*638-78G>T | |

ENST00000644595.1:c.557-78G>T (OPA1) | ENSP00000494121.1:n.557-78G>T | |

ENST00000644629.1:c.217-78G>T (OPA1) | ||

ENST00000644841.1:c.185-78G>T (OPA1) | ENSP00000493988.1:n.185-78G>T | |

ENST00000644959.1:c.526-78G>T (OPA1) | ||

ENST00000645553.1:c.557-78G>T (OPA1) | ENSP00000494725.1:n.557-78G>T | |

ENST00000646085.1:c.557-78G>T (OPA1) | ENSP00000494509.1:n.557-78G>T | |

ENST00000646277.1:c.611-78G>T (OPA1) | ENSP00000495289.1:n.611-78G>T | |

ENST00000646699.1:c.574G>T (OPA1) | ||

ENST00000646793.1:c.449-78G>T (OPA1) | ENSP00000494512.1:n.449-78G>T | |

ENST00000361150.6:c.449-78G>T (OPA1) | ENSP00000354781.2:n.449-78G>T | |

ENST00000361510.6:c.611-78G>T (OPA1) | ENSP00000355324.2:n.611-78G>T | |

ENST00000361715.6:c.503-78G>T (OPA1) | ENSP00000355311.2:n.503-78G>T | |

ENST00000361828.6:c.611-78G>T (OPA1) | ENSP00000354429.2:n.611-78G>T | |

ENST00000361908.7:c.557-78G>T (OPA1) | ENSP00000354681.3:n.557-78G>T | |

ENST00000392436.6:c.611-78G>T (OPA1) | ENSP00000376231.2:n.611-78G>T | |

ENST00000392437.5:c.449-78G>T (OPA1) | ENSP00000376232.1:n.449-78G>T | |

ENST00000392438.7:c.557-78G>T (OPA1) | ENSP00000376233.3:n.557-78G>T | |

ENST00000419435.5:c.185-78G>T (OPA1) | ENSP00000399877.1:n.185-78G>T | |

ENST00000434811.1:c.310-78G>T (OPA1) | ||

ENST00000487986.1:n.460-78G>T (OPA1) | ||

NM_015560.2:c.557-78G>T , LRG_337t1:c.557-78G>T (OPA1) | NP_056375.2:n.557-78G>T | |

NM_130831.2:c.449-78G>T (OPA1) | NP_570844.1:n.449-78G>T | |

NM_130832.2:c.503-78G>T (OPA1) | NP_570845.1:n.503-78G>T | |

NM_130833.2:c.449-78G>T (OPA1) | NP_570846.1:n.449-78G>T | |

NM_130834.2:c.611-78G>T (OPA1) | NP_570847.2:n.611-78G>T | |

NM_130835.2:c.503-78G>T (OPA1) | NP_570848.1:n.503-78G>T | |

NM_130836.2:c.557-78G>T (OPA1) | NP_570849.2:n.557-78G>T | |

NM_130837.2:c.611-78G>T , LRG_337t2:c.611-78G>T (OPA1) | NP_570850.2:n.611-78G>T | |

NR_046634.1:n.310C>A (OPA1-AS1) | ||

XM_011512863.1:c.611-78G>T (OPA1) | XP_011511165.1:n.611-78G>T | |

XM_011512864.1:c.557-78G>T (OPA1) | XP_011511166.1:n.557-78G>T | |

XM_011512865.1:c.611-78G>T (OPA1) | XP_011511167.1:n.611-78G>T | |

XM_011512866.1:c.449-78G>T (OPA1) | XP_011511168.1:n.449-78G>T | |

XM_011512867.1:c.557-78G>T (OPA1) | XP_011511169.1:n.557-78G>T | |

XM_011512868.1:c.449-78G>T (OPA1) | XP_011511170.1:n.449-78G>T | |

XM_011512869.1:c.611-78G>T (OPA1) | XP_011511171.1:n.611-78G>T | |

NM_001354663.1:c.77-78G>T (OPA1) | NP_001341592.1:n.77-78G>T | |

NM_001354664.1:c.185-78G>T (OPA1) | NP_001341593.1:n.185-78G>T | |

XR_001740158.2:n.840-78G>T (OPA1) | ||

XR_001740159.2:n.786-78G>T (OPA1) | ||

NM_001354663.2:c.77-78G>T (OPA1) | NP_001341592.1:n.77-78G>T | |

NM_001354664.2:c.185-78G>T (OPA1) | NP_001341593.1:n.185-78G>T | |

NM_130831.3:c.449-78G>T (OPA1) | NP_570844.1:n.449-78G>T | |

NM_130832.3:c.503-78G>T (OPA1) | NP_570845.1:n.503-78G>T | |

NM_130834.3:c.611-78G>T (OPA1) | NP_570847.2:n.611-78G>T | |

NM_130836.3:c.557-78G>T (OPA1) | NP_570849.2:n.557-78G>T | |

NM_015560.3:c.557-78G>T (OPA1) | NP_056375.2:n.557-78G>T | |

NM_130833.3:c.449-78G>T (OPA1) | NP_570846.1:n.449-78G>T | |

NM_130835.3:c.503-78G>T (OPA1) | NP_570848.1:n.503-78G>T | |

NM_130837.3:c.611-78G>T (OPA1) MANE Select | NP_570850.2:n.611-78G>T |