Linked Data
ClinVar Variation Id:
540468
dbSNP Id:
rs560987339
ExAC:
16:775102 C / T
gnomAD v2:
16-775102-C-T
gnomAD v3:
16-725102-C-T
gnomAD v4:
16-725102-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.725102C>T , CM000678.2:g.725102C>T | GRCh38 |
| NC_000016.9:g.775102C>T , CM000678.1:g.775102C>T | GRCh37 |
| NC_000016.8:g.715103C>T | NCBI36 |
| NG_032932.1:g.6372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423653.6:n.581G>A (CCDC78) | ||
| ENST00000682391.1:n.716G>A (CCDC78) | ||
| ENST00000345165.10:c.536G>A (CCDC78) MANE Select | ENSP00000316851.5:p.Arg179Gln | |
| ENST00000293889.10:c.536G>A (CCDC78) | ENSP00000293889.6:p.Arg179Gln | |
| ENST00000345165.8:c.82G>A (CCDC78) | ||
| ENST00000423653.5:c.83G>A (CCDC78) | ENSP00000458590.1:p.Arg28Gln | |
| ENST00000439619.6:n.704G>A (CCDC78) | ||
| ENST00000460023.5:n.594G>A (CCDC78) | ||
| ENST00000463539.5:n.599G>A (CCDC78) | ||
| ENST00000466708.5:n.709G>A (CCDC78) | ||
| ENST00000471861.5:n.642G>A (CCDC78) | ||
| ENST00000478979.5:n.535G>A (CCDC78) | ||
| ENST00000481804.5:n.1035G>A (CCDC78) | ||
| ENST00000482878.5:n.938G>A (CCDC78) | ||
| ENST00000485091.5:n.689G>A (CCDC78) | ||
| ENST00000538176.5:n.606G>A (CCDC78) | ||
| ENST00000544996.1:n.433G>A (CCDC78) | ||
| ENST00000620831.4:c.-49-37530C>T (MSLN) | ENSP00000482893.1:n.-49-37530C>T | |
| NM_001031737.2:c.536G>A (CCDC78) | NP_001026907.2:p.Arg179Gln | |
| XM_005255106.3:c.594G>A (CCDC78) | XP_005255163.1:p.Pro198= | |
| XM_006720838.1:c.758G>A (CCDC78) | XP_006720901.1:p.Arg253Gln | |
| XM_006720843.2:c.536G>A (CCDC78) | XP_006720906.1:p.Arg179Gln | |
| XM_011522356.1:c.1062G>A (CCDC78) | XP_011520658.1:p.Pro354= | |
| XM_011522357.1:c.971G>A (CCDC78) | XP_011520659.1:p.Arg324Gln | |
| XM_011522358.1:c.1062G>A (CCDC78) | XP_011520660.1:p.Pro354= | |
| XM_011522359.1:c.1029G>A (CCDC78) | XP_011520661.1:p.Pro343= | |
| XM_011522360.1:c.938G>A (CCDC78) | XP_011520662.1:p.Arg313Gln | |
| XM_011522361.1:c.1062G>A (CCDC78) | XP_011520663.1:p.Pro354= | |
| XM_011522362.1:c.1062G>A (CCDC78) | XP_011520664.1:p.Pro354= | |
| XM_011522363.1:c.1062G>A (CCDC78) | XP_011520665.1:p.Pro354= | |
| XM_011522364.1:c.1062G>A (CCDC78) | XP_011520666.1:p.Pro354= | |
| XM_011522365.1:c.849G>A (CCDC78) | XP_011520667.1:p.Pro283= | |
| XM_011522366.1:c.840G>A (CCDC78) | XP_011520668.1:p.Pro280= | |
| XM_011522367.1:c.681G>A (CCDC78) | XP_011520669.1:p.Pro227= | |
| XM_011522368.1:c.590G>A (CCDC78) | XP_011520670.1:p.Arg197Gln | |
| XM_011522369.1:c.627G>A (CCDC78) | XP_011520671.1:p.Pro209= | |
| XM_011522370.1:c.459G>A (CCDC78) | XP_011520672.1:p.Pro153= | |
| XM_011522371.1:c.174G>A (CCDC78) | XP_011520673.1:p.Pro58= | |
| XM_006720843.4:c.536G>A (CCDC78) | XP_006720906.1:p.Arg179Gln | |
| XM_011522358.2:c.1062G>A (CCDC78) | XP_011520660.1:p.Pro354= | |
| XM_011522371.2:c.174G>A (CCDC78) | XP_011520673.1:p.Pro58= | |
| XM_017022929.1:c.1062G>A (CCDC78) | XP_016878418.1:p.Pro354= | |
| XM_017022930.1:c.83G>A (CCDC78) | XP_016878419.1:p.Arg28Gln | |
| XR_001751835.1:n.1151G>A (CCDC78) | ||
| XR_001751836.1:n.938G>A (CCDC78) | ||
| XR_001751837.1:n.716G>A (CCDC78) | ||
| XR_001751838.1:n.1062G>A (CCDC78) | ||
| XR_001751839.1:n.716G>A (CCDC78) | ||
| NM_001031737.3:c.536G>A (CCDC78) | NP_001026907.2:p.Arg179Gln | |
| NM_001378030.1:c.536G>A (CCDC78) MANE Select | NP_001364959.1:p.Arg179Gln | |
| NM_001378031.1:c.536G>A (CCDC78) | NP_001364960.1:p.Arg179Gln | |
| NM_001378033.1:c.174G>A (CCDC78) | NP_001364962.1:p.Pro58= | |
| NR_165382.1:n.834G>A (CCDC78) | ||
| NR_165383.1:n.568G>A (CCDC78) | ||
| NR_165384.1:n.535G>A (CCDC78) | ||
| NR_165385.1:n.612G>A (CCDC78) | ||
| NR_165386.1:n.612G>A (CCDC78) |