Revel Score:
ENST00000293889
0.245
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.724692A>T , CM000678.2:g.724692A>T | GRCh38 |
| NC_000016.9:g.774692A>T , CM000678.1:g.774692A>T | GRCh37 |
| NC_000016.8:g.714693A>T | NCBI36 |
| NG_032932.1:g.6782T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1126T>A (CCDC78) | ||
| ENST00000345165.10:c.754T>A (CCDC78) MANE Select | ENSP00000316851.5:p.Trp252Arg | |
| ENST00000293889.10:c.754T>A (CCDC78) | ENSP00000293889.6:p.Trp252Arg | |
| ENST00000345165.8:c.300T>A (CCDC78) | ||
| ENST00000439619.6:n.922T>A (CCDC78) | ||
| ENST00000463539.5:n.905T>A (CCDC78) | ||
| ENST00000466708.5:n.927T>A (CCDC78) | ||
| ENST00000478979.5:n.945T>A (CCDC78) | ||
| ENST00000481804.5:n.1445T>A (CCDC78) | ||
| ENST00000482878.5:n.1348T>A (CCDC78) | ||
| ENST00000485091.5:n.907T>A (CCDC78) | ||
| ENST00000538176.5:n.1016T>A (CCDC78) | ||
| ENST00000620831.4:c.-49-37940A>T (MSLN) | ENSP00000482893.1:n.-49-37940A>T | |
| NM_001031737.2:c.754T>A (CCDC78) | NP_001026907.2:p.Trp252Arg | |
| XM_005255106.3:c.*215T>A (CCDC78) | XP_005255163.1:n.*215T>A | |
| XM_006720838.1:c.976T>A (CCDC78) | XP_006720901.1:p.Trp326Arg | |
| XM_006720843.2:c.754T>A (CCDC78) | XP_006720906.1:p.Trp252Arg | |
| XM_011522356.1:c.1201T>A (CCDC78) | XP_011520658.1:p.Trp401Arg | |
| XM_011522357.1:c.1189T>A (CCDC78) | XP_011520659.1:p.Trp397Arg | |
| XM_011522358.1:c.1201T>A (CCDC78) | XP_011520660.1:p.Trp401Arg | |
| XM_011522359.1:c.1168T>A (CCDC78) | XP_011520661.1:p.Trp390Arg | |
| XM_011522360.1:c.1156T>A (CCDC78) | XP_011520662.1:p.Trp386Arg | |
| XM_011522361.1:c.1201T>A (CCDC78) | XP_011520663.1:p.Trp401Arg | |
| XM_011522362.1:c.1201T>A (CCDC78) | XP_011520664.1:p.Trp401Arg | |
| XM_011522363.1:c.1201T>A (CCDC78) | XP_011520665.1:p.Trp401Arg | |
| XM_011522364.1:c.1201T>A (CCDC78) | XP_011520666.1:p.Trp401Arg | |
| XM_011522365.1:c.988T>A (CCDC78) | XP_011520667.1:p.Trp330Arg | |
| XM_011522366.1:c.979T>A (CCDC78) | XP_011520668.1:p.Trp327Arg | |
| XM_011522367.1:c.820T>A (CCDC78) | XP_011520669.1:p.Trp274Arg | |
| XM_011522368.1:c.808T>A (CCDC78) | XP_011520670.1:p.Trp270Arg | |
| XM_011522369.1:c.766T>A (CCDC78) | XP_011520671.1:p.Trp256Arg | |
| XM_011522370.1:c.598T>A (CCDC78) | XP_011520672.1:p.Trp200Arg | |
| XM_011522371.1:c.313T>A (CCDC78) | XP_011520673.1:p.Trp105Arg | |
| XM_006720843.4:c.754T>A (CCDC78) | XP_006720906.1:p.Trp252Arg | |
| XM_011522358.2:c.1201T>A (CCDC78) | XP_011520660.1:p.Trp401Arg | |
| XM_011522371.2:c.313T>A (CCDC78) | XP_011520673.1:p.Trp105Arg | |
| XM_017022929.1:c.1201T>A (CCDC78) | XP_016878418.1:p.Trp401Arg | |
| XM_017022930.1:c.301T>A (CCDC78) | XP_016878419.1:p.Trp101Arg | |
| XM_024450150.1:c.-141T>A (CCDC78) | XP_024305918.1:n.-141T>A | |
| XR_001751835.1:n.1369T>A (CCDC78) | ||
| XR_001751836.1:n.1348T>A (CCDC78) | ||
| XR_001751837.1:n.1126T>A (CCDC78) | ||
| XR_001751838.1:n.1472T>A (CCDC78) | ||
| XR_001751839.1:n.934T>A (CCDC78) | ||
| NM_001031737.3:c.754T>A (CCDC78) | NP_001026907.2:p.Trp252Arg | |
| NM_001378030.1:c.754T>A (CCDC78) MANE Select | NP_001364959.1:p.Trp252Arg | |
| NM_001378031.1:c.754T>A (CCDC78) | NP_001364960.1:p.Trp252Arg | |
| NM_001378033.1:c.199-183T>A (CCDC78) | NP_001364962.1:n.199-183T>A | |
| NR_165382.1:n.1140T>A (CCDC78) | ||
| NR_165383.1:n.786T>A (CCDC78) | ||
| NR_165384.1:n.751T>A (CCDC78) | ||
| NR_165385.1:n.1022T>A (CCDC78) | ||
| NR_165386.1:n.918T>A (CCDC78) |