Revel Score:
ENST00000293889
0.105
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00521703 (AFR)
Genomes Max Group AF
0.00485378 (AFR)
Exomes Max Group AF
0.00526809 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.725464C>A , CM000678.2:g.725464C>A | GRCh38 |
| NC_000016.9:g.775464C>A , CM000678.1:g.775464C>A | GRCh37 |
| NC_000016.8:g.715465C>A | NCBI36 |
| NG_032932.1:g.6010G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423653.6:n.429G>T (CCDC78) | ||
| ENST00000682391.1:n.473G>T (CCDC78) | ||
| ENST00000345165.10:c.384G>T (CCDC78) MANE Select | ENSP00000316851.5:p.Glu128Asp | |
| ENST00000293889.10:c.384G>T (CCDC78) | ENSP00000293889.6:p.Glu128Asp | |
| ENST00000423653.5:c.-70G>T (CCDC78) | ENSP00000458590.1:n.-70G>T | |
| ENST00000439619.6:n.461G>T (CCDC78) | ||
| ENST00000460023.5:n.384G>T (CCDC78) | ||
| ENST00000463539.5:n.447G>T (CCDC78) | ||
| ENST00000466708.5:n.590G>T (CCDC78) | ||
| ENST00000471861.5:n.490G>T (CCDC78) | ||
| ENST00000474647.1:n.336-171G>T (CCDC78) | ||
| ENST00000478979.5:n.344-171G>T (CCDC78) | ||
| ENST00000481804.5:n.673G>T (CCDC78) | ||
| ENST00000482878.5:n.695G>T (CCDC78) | ||
| ENST00000485091.5:n.446G>T (CCDC78) | ||
| ENST00000538176.5:n.454G>T (CCDC78) | ||
| ENST00000544996.1:n.190G>T (CCDC78) | ||
| ENST00000620831.4:c.-49-37168C>A (MSLN) | ENSP00000482893.1:n.-49-37168C>A | |
| NM_001031737.2:c.384G>T (CCDC78) | NP_001026907.2:p.Glu128Asp | |
| XM_005255106.3:c.384G>T (CCDC78) | XP_005255163.1:p.Glu128Asp | |
| XM_006720838.1:c.606G>T (CCDC78) | XP_006720901.1:p.Glu202Asp | |
| XM_006720843.2:c.384G>T (CCDC78) | XP_006720906.1:p.Glu128Asp | |
| XM_011522356.1:c.819G>T (CCDC78) | XP_011520658.1:p.Glu273Asp | |
| XM_011522357.1:c.819G>T (CCDC78) | XP_011520659.1:p.Glu273Asp | |
| XM_011522358.1:c.819G>T (CCDC78) | XP_011520660.1:p.Glu273Asp | |
| XM_011522359.1:c.819G>T (CCDC78) | XP_011520661.1:p.Glu273Asp | |
| XM_011522360.1:c.819G>T (CCDC78) | XP_011520662.1:p.Glu273Asp | |
| XM_011522361.1:c.819G>T (CCDC78) | XP_011520663.1:p.Glu273Asp | |
| XM_011522362.1:c.819G>T (CCDC78) | XP_011520664.1:p.Glu273Asp | |
| XM_011522363.1:c.819G>T (CCDC78) | XP_011520665.1:p.Glu273Asp | |
| XM_011522364.1:c.819G>T (CCDC78) | XP_011520666.1:p.Glu273Asp | |
| XM_011522365.1:c.606G>T (CCDC78) | XP_011520667.1:p.Glu202Asp | |
| XM_011522366.1:c.597G>T (CCDC78) | XP_011520668.1:p.Glu199Asp | |
| XM_011522367.1:c.490-171G>T (CCDC78) | XP_011520669.1:n.490-171G>T | |
| XM_011522368.1:c.490-171G>T (CCDC78) | XP_011520670.1:n.490-171G>T | |
| XM_011522369.1:c.384G>T (CCDC78) | XP_011520671.1:p.Glu128Asp | |
| XM_011522370.1:c.268-171G>T (CCDC78) | XP_011520672.1:n.268-171G>T | |
| XM_011522371.1:c.-18-171G>T (CCDC78) | XP_011520673.1:n.-18-171G>T | |
| XM_006720843.4:c.384G>T (CCDC78) | XP_006720906.1:p.Glu128Asp | |
| XM_011522358.2:c.819G>T (CCDC78) | XP_011520660.1:p.Glu273Asp | |
| XM_011522371.2:c.-18-171G>T (CCDC78) | XP_011520673.1:n.-18-171G>T | |
| XM_017022929.1:c.819G>T (CCDC78) | XP_016878418.1:p.Glu273Asp | |
| XM_017022930.1:c.-70G>T (CCDC78) | XP_016878419.1:n.-70G>T | |
| XR_001751835.1:n.908G>T (CCDC78) | ||
| XR_001751836.1:n.695G>T (CCDC78) | ||
| XR_001751837.1:n.473G>T (CCDC78) | ||
| XR_001751838.1:n.852G>T (CCDC78) | ||
| XR_001751839.1:n.473G>T (CCDC78) | ||
| NM_001031737.3:c.384G>T (CCDC78) | NP_001026907.2:p.Glu128Asp | |
| NM_001378030.1:c.384G>T (CCDC78) MANE Select | NP_001364959.1:p.Glu128Asp | |
| NM_001378031.1:c.384G>T (CCDC78) | NP_001364960.1:p.Glu128Asp | |
| NM_001378033.1:c.-18-171G>T (CCDC78) | NP_001364962.1:n.-18-171G>T | |
| NR_165382.1:n.682G>T (CCDC78) | ||
| NR_165383.1:n.416G>T (CCDC78) | ||
| NR_165384.1:n.416G>T (CCDC78) | ||
| NR_165385.1:n.460G>T (CCDC78) | ||
| NR_165386.1:n.460G>T (CCDC78) |