Linked Data
ClinVar Variation Id:
447011
dbSNP Id:
rs780197880
ExAC:
16:774186 C / G
gnomAD v2:
16-774186-C-G
gnomAD v3:
16-724186-C-G
gnomAD v4:
16-724186-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.724186C>G , CM000678.2:g.724186C>G | GRCh38 |
| NC_000016.9:g.774186C>G , CM000678.1:g.774186C>G | GRCh37 |
| NC_000016.8:g.714187C>G | NCBI36 |
| NG_032932.1:g.7288G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1516G>C (CCDC78) | ||
| ENST00000345165.10:c.973G>C (CCDC78) MANE Select | ENSP00000316851.5:p.Ala325Pro | |
| ENST00000293889.10:c.973G>C (CCDC78) | ENSP00000293889.6:p.Ala325Pro | |
| ENST00000345165.8:c.519G>C (CCDC78) | ||
| ENST00000463539.5:n.1295G>C (CCDC78) | ||
| ENST00000466708.5:n.1317G>C (CCDC78) | ||
| ENST00000478979.5:n.1451G>C (CCDC78) | ||
| ENST00000481804.5:n.1951G>C (CCDC78) | ||
| ENST00000482152.1:n.334G>C (CCDC78) | ||
| ENST00000482878.5:n.1854G>C (CCDC78) | ||
| ENST00000485091.5:n.1126G>C (CCDC78) | ||
| ENST00000620831.4:c.-49-38446C>G (MSLN) | ENSP00000482893.1:n.-49-38446C>G | |
| NM_001031737.2:c.973G>C (CCDC78) | NP_001026907.2:p.Ala325Pro | |
| XM_006720838.1:c.1195G>C (CCDC78) | XP_006720901.1:p.Ala399Pro | |
| XM_006720843.2:c.973G>C (CCDC78) | XP_006720906.1:p.Ala325Pro | |
| XM_011522356.1:c.1420G>C (CCDC78) | XP_011520658.1:p.Ala474Pro | |
| XM_011522357.1:c.1408G>C (CCDC78) | XP_011520659.1:p.Ala470Pro | |
| XM_011522358.1:c.1420G>C (CCDC78) | XP_011520660.1:p.Ala474Pro | |
| XM_011522359.1:c.1387G>C (CCDC78) | XP_011520661.1:p.Ala463Pro | |
| XM_011522360.1:c.1375G>C (CCDC78) | XP_011520662.1:p.Ala459Pro | |
| XM_011522361.1:c.1420G>C (CCDC78) | XP_011520663.1:p.Ala474Pro | |
| XM_011522362.1:c.1420G>C (CCDC78) | XP_011520664.1:p.Ala474Pro | |
| XM_011522363.1:c.1420G>C (CCDC78) | XP_011520665.1:p.Ala474Pro | |
| XM_011522364.1:c.1420G>C (CCDC78) | XP_011520666.1:p.Ala474Pro | |
| XM_011522365.1:c.1207G>C (CCDC78) | XP_011520667.1:p.Ala403Pro | |
| XM_011522366.1:c.1198G>C (CCDC78) | XP_011520668.1:p.Ala400Pro | |
| XM_011522367.1:c.1039G>C (CCDC78) | XP_011520669.1:p.Ala347Pro | |
| XM_011522368.1:c.1027G>C (CCDC78) | XP_011520670.1:p.Ala343Pro | |
| XM_011522369.1:c.985G>C (CCDC78) | XP_011520671.1:p.Ala329Pro | |
| XM_011522370.1:c.817G>C (CCDC78) | XP_011520672.1:p.Ala273Pro | |
| XM_011522371.1:c.532G>C (CCDC78) | XP_011520673.1:p.Ala178Pro | |
| XM_006720843.4:c.973G>C (CCDC78) | XP_006720906.1:p.Ala325Pro | |
| XM_011522358.2:c.1420G>C (CCDC78) | XP_011520660.1:p.Ala474Pro | |
| XM_011522371.2:c.532G>C (CCDC78) | XP_011520673.1:p.Ala178Pro | |
| XM_017022929.1:c.1420G>C (CCDC78) | XP_016878418.1:p.Ala474Pro | |
| XM_017022930.1:c.520G>C (CCDC78) | XP_016878419.1:p.Ala174Pro | |
| XM_024450150.1:c.250G>C (CCDC78) | XP_024305918.1:p.Ala84Pro | |
| XR_001751835.1:n.1759G>C (CCDC78) | ||
| XR_001751836.1:n.1738G>C (CCDC78) | ||
| XR_001751837.1:n.1516G>C (CCDC78) | ||
| XR_001751838.1:n.1862G>C (CCDC78) | ||
| XR_001751839.1:n.1324G>C (CCDC78) | ||
| NM_001031737.3:c.973G>C (CCDC78) | NP_001026907.2:p.Ala325Pro | |
| NM_001378030.1:c.973G>C (CCDC78) MANE Select | NP_001364959.1:p.Ala325Pro | |
| NM_001378031.1:c.953+136G>C (CCDC78) | NP_001364960.1:n.953+136G>C | |
| NM_001378033.1:c.406G>C (CCDC78) | NP_001364962.1:p.Ala136Pro | |
| NR_165382.1:n.1530G>C (CCDC78) | ||
| NR_165383.1:n.1176G>C (CCDC78) | ||
| NR_165384.1:n.1141G>C (CCDC78) | ||
| NR_165385.1:n.1241G>C (CCDC78) | ||
| NR_165386.1:n.1308G>C (CCDC78) |