Linked Data
dbSNP Id:
rs1385092869
gnomAD v2:
16-774137-A-G
gnomAD v3:
16-724137-A-G
gnomAD v4:
16-724137-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.724137A>G , CM000678.2:g.724137A>G | GRCh38 |
| NC_000016.9:g.774137A>G , CM000678.1:g.774137A>G | GRCh37 |
| NC_000016.8:g.714138A>G | NCBI36 |
| NG_032932.1:g.7337T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1565T>C (CCDC78) | ||
| ENST00000345165.10:c.1022T>C (CCDC78) MANE Select | ENSP00000316851.5:p.Leu341Pro | |
| ENST00000293889.10:c.1022T>C (CCDC78) | ENSP00000293889.6:p.Leu341Pro | |
| ENST00000345165.8:c.568T>C (CCDC78) | ||
| ENST00000463539.5:n.1344T>C (CCDC78) | ||
| ENST00000466708.5:n.1366T>C (CCDC78) | ||
| ENST00000478979.5:n.1500T>C (CCDC78) | ||
| ENST00000481804.5:n.2000T>C (CCDC78) | ||
| ENST00000482152.1:n.383T>C (CCDC78) | ||
| ENST00000482878.5:n.1903T>C (CCDC78) | ||
| ENST00000485091.5:n.1175T>C (CCDC78) | ||
| ENST00000620831.4:c.-49-38495A>G (MSLN) | ENSP00000482893.1:n.-49-38495A>G | |
| NM_001031737.2:c.1022T>C (CCDC78) | NP_001026907.2:p.Leu341Pro | |
| XM_006720838.1:c.1244T>C (CCDC78) | XP_006720901.1:p.Leu415Pro | |
| XM_006720843.2:c.1022T>C (CCDC78) | XP_006720906.1:p.Leu341Pro | |
| XM_011522356.1:c.1469T>C (CCDC78) | XP_011520658.1:p.Leu490Pro | |
| XM_011522357.1:c.1457T>C (CCDC78) | XP_011520659.1:p.Leu486Pro | |
| XM_011522358.1:c.1469T>C (CCDC78) | XP_011520660.1:p.Leu490Pro | |
| XM_011522359.1:c.1436T>C (CCDC78) | XP_011520661.1:p.Leu479Pro | |
| XM_011522360.1:c.1424T>C (CCDC78) | XP_011520662.1:p.Leu475Pro | |
| XM_011522361.1:c.1469T>C (CCDC78) | XP_011520663.1:p.Leu490Pro | |
| XM_011522362.1:c.1469T>C (CCDC78) | XP_011520664.1:p.Leu490Pro | |
| XM_011522363.1:c.1469T>C (CCDC78) | XP_011520665.1:p.Leu490Pro | |
| XM_011522364.1:c.1469T>C (CCDC78) | XP_011520666.1:p.Leu490Pro | |
| XM_011522365.1:c.1256T>C (CCDC78) | XP_011520667.1:p.Leu419Pro | |
| XM_011522366.1:c.1247T>C (CCDC78) | XP_011520668.1:p.Leu416Pro | |
| XM_011522367.1:c.1088T>C (CCDC78) | XP_011520669.1:p.Leu363Pro | |
| XM_011522368.1:c.1076T>C (CCDC78) | XP_011520670.1:p.Leu359Pro | |
| XM_011522369.1:c.1034T>C (CCDC78) | XP_011520671.1:p.Leu345Pro | |
| XM_011522370.1:c.866T>C (CCDC78) | XP_011520672.1:p.Leu289Pro | |
| XM_011522371.1:c.581T>C (CCDC78) | XP_011520673.1:p.Leu194Pro | |
| XM_006720843.4:c.1022T>C (CCDC78) | XP_006720906.1:p.Leu341Pro | |
| XM_011522358.2:c.1469T>C (CCDC78) | XP_011520660.1:p.Leu490Pro | |
| XM_011522371.2:c.581T>C (CCDC78) | XP_011520673.1:p.Leu194Pro | |
| XM_017022929.1:c.1469T>C (CCDC78) | XP_016878418.1:p.Leu490Pro | |
| XM_017022930.1:c.569T>C (CCDC78) | XP_016878419.1:p.Leu190Pro | |
| XM_024450150.1:c.299T>C (CCDC78) | XP_024305918.1:p.Leu100Pro | |
| XR_001751835.1:n.1808T>C (CCDC78) | ||
| XR_001751836.1:n.1787T>C (CCDC78) | ||
| XR_001751837.1:n.1565T>C (CCDC78) | ||
| XR_001751838.1:n.1911T>C (CCDC78) | ||
| XR_001751839.1:n.1373T>C (CCDC78) | ||
| NM_001031737.3:c.1022T>C (CCDC78) | NP_001026907.2:p.Leu341Pro | |
| NM_001378030.1:c.1022T>C (CCDC78) MANE Select | NP_001364959.1:p.Leu341Pro | |
| NM_001378031.1:c.953+185T>C (CCDC78) | NP_001364960.1:n.953+185T>C | |
| NM_001378033.1:c.455T>C (CCDC78) | NP_001364962.1:p.Leu152Pro | |
| NR_165382.1:n.1579T>C (CCDC78) | ||
| NR_165383.1:n.1225T>C (CCDC78) | ||
| NR_165384.1:n.1190T>C (CCDC78) | ||
| NR_165385.1:n.1290T>C (CCDC78) | ||
| NR_165386.1:n.1357T>C (CCDC78) |