Revel Score:
ENST00000345165 (MANE Select)
0.022
ENST00000293889
0.022
ENST00000540512
0.021
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0003448 (AMR)
Genomes Max Group AF
0.00050243 (AMR)
Exomes Max Group AF
0.00022388 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723009C>T , CM000678.2:g.723009C>T | GRCh38 |
| NC_000016.9:g.773009C>T , CM000678.1:g.773009C>T | GRCh37 |
| NC_000016.8:g.713010C>T | NCBI36 |
| NG_032932.1:g.8465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1782G>A (CCDC78) | ||
| ENST00000345165.10:c.1214G>A (CCDC78) MANE Select | ENSP00000316851.5:p.Arg405Gln | |
| ENST00000293889.10:c.1210G>A (CCDC78) | ENSP00000293889.6:p.Gly404Arg | |
| ENST00000345165.8:c.760G>A (CCDC78) | ||
| ENST00000463539.5:n.1536G>A (CCDC78) | ||
| ENST00000466708.5:n.1558G>A (CCDC78) | ||
| ENST00000478979.5:n.2628G>A (CCDC78) | ||
| ENST00000481804.5:n.2959G>A (CCDC78) | ||
| ENST00000482152.1:n.647G>A (CCDC78) | ||
| ENST00000482878.5:n.3031G>A (CCDC78) | ||
| ENST00000485091.5:n.1439G>A (CCDC78) | ||
| ENST00000620831.4:c.-49-39623C>T (MSLN) | ENSP00000482893.1:n.-49-39623C>T | |
| NM_001031737.2:c.1210G>A (CCDC78) | NP_001026907.2:p.Gly404Arg | |
| XM_006720838.1:c.1508G>A (CCDC78) | XP_006720901.1:p.Arg503Gln | |
| XM_006720843.2:c.1286G>A (CCDC78) | XP_006720906.1:p.Arg429Gln | |
| XM_011522356.1:c.1733G>A (CCDC78) | XP_011520658.1:p.Arg578Gln | |
| XM_011522357.1:c.1721G>A (CCDC78) | XP_011520659.1:p.Arg574Gln | |
| XM_011522358.1:c.1733G>A (CCDC78) | XP_011520660.1:p.Arg578Gln | |
| XM_011522359.1:c.1700G>A (CCDC78) | XP_011520661.1:p.Arg567Gln | |
| XM_011522360.1:c.1688G>A (CCDC78) | XP_011520662.1:p.Arg563Gln | |
| XM_011522361.1:c.1661G>A (CCDC78) | XP_011520663.1:p.Arg554Gln | |
| XM_011522362.1:c.1657G>A (CCDC78) | XP_011520664.1:p.Gly553Arg | |
| XM_011522363.1:c.1657G>A (CCDC78) | XP_011520665.1:p.Gly553Arg | |
| XM_011522364.1:c.1657G>A (CCDC78) | XP_011520666.1:p.Gly553Arg | |
| XM_011522365.1:c.1520G>A (CCDC78) | XP_011520667.1:p.Arg507Gln | |
| XM_011522366.1:c.1511G>A (CCDC78) | XP_011520668.1:p.Arg504Gln | |
| XM_011522367.1:c.1352G>A (CCDC78) | XP_011520669.1:p.Arg451Gln | |
| XM_011522368.1:c.1340G>A (CCDC78) | XP_011520670.1:p.Arg447Gln | |
| XM_011522369.1:c.1298G>A (CCDC78) | XP_011520671.1:p.Arg433Gln | |
| XM_011522370.1:c.1130G>A (CCDC78) | XP_011520672.1:p.Arg377Gln | |
| XM_011522371.1:c.845G>A (CCDC78) | XP_011520673.1:p.Arg282Gln | |
| XM_006720843.4:c.1286G>A (CCDC78) | XP_006720906.1:p.Arg429Gln | |
| XM_011522358.2:c.1733G>A (CCDC78) | XP_011520660.1:p.Arg578Gln | |
| XM_011522371.2:c.845G>A (CCDC78) | XP_011520673.1:p.Arg282Gln | |
| XM_017022929.1:c.1661G>A (CCDC78) | XP_016878418.1:p.Arg554Gln | |
| XM_017022930.1:c.833G>A (CCDC78) | XP_016878419.1:p.Arg278Gln | |
| XM_017022931.1:c.656G>A (CCDC78) | XP_016878420.1:p.Arg219Gln | |
| XM_024450150.1:c.491G>A (CCDC78) | XP_024305918.1:p.Arg164Gln | |
| XR_001751835.1:n.2000G>A (CCDC78) | ||
| XR_001751836.1:n.1979G>A (CCDC78) | ||
| XR_001751837.1:n.1757G>A (CCDC78) | ||
| XR_001751838.1:n.2103G>A (CCDC78) | ||
| XR_001751839.1:n.1565G>A (CCDC78) | ||
| NM_001031737.3:c.1210G>A (CCDC78) | NP_001026907.2:p.Gly404Arg | |
| NM_001378030.1:c.1214G>A (CCDC78) MANE Select | NP_001364959.1:p.Arg405Gln | |
| NM_001378031.1:c.1034G>A (CCDC78) | NP_001364960.1:p.Arg345Gln | |
| NM_001378033.1:c.647G>A (CCDC78) | NP_001364962.1:p.Arg216Gln | |
| NR_165382.1:n.1843G>A (CCDC78) | ||
| NR_165383.1:n.1417G>A (CCDC78) | ||
| NR_165384.1:n.1382G>A (CCDC78) | ||
| NR_165385.1:n.1482G>A (CCDC78) | ||
| NR_165386.1:n.1549G>A (CCDC78) |