Linked Data
ClinVar Variation Id:
434621
dbSNP Id:
rs752077571
ExAC:
16:774716 C / T
gnomAD v2:
16-774716-C-T
gnomAD v3:
16-724716-C-T
gnomAD v4:
16-724716-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.724716C>T , CM000678.2:g.724716C>T | GRCh38 |
| NC_000016.9:g.774716C>T , CM000678.1:g.774716C>T | GRCh37 |
| NC_000016.8:g.714717C>T | NCBI36 |
| NG_032932.1:g.6758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1102G>A (CCDC78) | ||
| ENST00000345165.10:c.730G>A (CCDC78) MANE Select | ENSP00000316851.5:p.Val244Ile | |
| ENST00000293889.10:c.730G>A (CCDC78) | ENSP00000293889.6:p.Val244Ile | |
| ENST00000345165.8:c.276G>A (CCDC78) | ||
| ENST00000439619.6:n.898G>A (CCDC78) | ||
| ENST00000463539.5:n.881G>A (CCDC78) | ||
| ENST00000466708.5:n.903G>A (CCDC78) | ||
| ENST00000478979.5:n.921G>A (CCDC78) | ||
| ENST00000481804.5:n.1421G>A (CCDC78) | ||
| ENST00000482878.5:n.1324G>A (CCDC78) | ||
| ENST00000485091.5:n.883G>A (CCDC78) | ||
| ENST00000538176.5:n.992G>A (CCDC78) | ||
| ENST00000620831.4:c.-49-37916C>T (MSLN) | ENSP00000482893.1:n.-49-37916C>T | |
| NM_001031737.2:c.730G>A (CCDC78) | NP_001026907.2:p.Val244Ile | |
| XM_005255106.3:c.*191G>A (CCDC78) | XP_005255163.1:n.*191G>A | |
| XM_006720838.1:c.952G>A (CCDC78) | XP_006720901.1:p.Val318Ile | |
| XM_006720843.2:c.730G>A (CCDC78) | XP_006720906.1:p.Val244Ile | |
| XM_011522356.1:c.1177G>A (CCDC78) | XP_011520658.1:p.Val393Ile | |
| XM_011522357.1:c.1165G>A (CCDC78) | XP_011520659.1:p.Val389Ile | |
| XM_011522358.1:c.1177G>A (CCDC78) | XP_011520660.1:p.Val393Ile | |
| XM_011522359.1:c.1144G>A (CCDC78) | XP_011520661.1:p.Val382Ile | |
| XM_011522360.1:c.1132G>A (CCDC78) | XP_011520662.1:p.Val378Ile | |
| XM_011522361.1:c.1177G>A (CCDC78) | XP_011520663.1:p.Val393Ile | |
| XM_011522362.1:c.1177G>A (CCDC78) | XP_011520664.1:p.Val393Ile | |
| XM_011522363.1:c.1177G>A (CCDC78) | XP_011520665.1:p.Val393Ile | |
| XM_011522364.1:c.1177G>A (CCDC78) | XP_011520666.1:p.Val393Ile | |
| XM_011522365.1:c.964G>A (CCDC78) | XP_011520667.1:p.Val322Ile | |
| XM_011522366.1:c.955G>A (CCDC78) | XP_011520668.1:p.Val319Ile | |
| XM_011522367.1:c.796G>A (CCDC78) | XP_011520669.1:p.Val266Ile | |
| XM_011522368.1:c.784G>A (CCDC78) | XP_011520670.1:p.Val262Ile | |
| XM_011522369.1:c.742G>A (CCDC78) | XP_011520671.1:p.Val248Ile | |
| XM_011522370.1:c.574G>A (CCDC78) | XP_011520672.1:p.Val192Ile | |
| XM_011522371.1:c.289G>A (CCDC78) | XP_011520673.1:p.Val97Ile | |
| XM_006720843.4:c.730G>A (CCDC78) | XP_006720906.1:p.Val244Ile | |
| XM_011522358.2:c.1177G>A (CCDC78) | XP_011520660.1:p.Val393Ile | |
| XM_011522371.2:c.289G>A (CCDC78) | XP_011520673.1:p.Val97Ile | |
| XM_017022929.1:c.1177G>A (CCDC78) | XP_016878418.1:p.Val393Ile | |
| XM_017022930.1:c.277G>A (CCDC78) | XP_016878419.1:p.Val93Ile | |
| XM_024450150.1:c.-165G>A (CCDC78) | XP_024305918.1:n.-165G>A | |
| XR_001751835.1:n.1345G>A (CCDC78) | ||
| XR_001751836.1:n.1324G>A (CCDC78) | ||
| XR_001751837.1:n.1102G>A (CCDC78) | ||
| XR_001751838.1:n.1448G>A (CCDC78) | ||
| XR_001751839.1:n.910G>A (CCDC78) | ||
| NM_001031737.3:c.730G>A (CCDC78) | NP_001026907.2:p.Val244Ile | |
| NM_001378030.1:c.730G>A (CCDC78) MANE Select | NP_001364959.1:p.Val244Ile | |
| NM_001378031.1:c.730G>A (CCDC78) | NP_001364960.1:p.Val244Ile | |
| NM_001378033.1:c.199-207G>A (CCDC78) | NP_001364962.1:n.199-207G>A | |
| NR_165382.1:n.1116G>A (CCDC78) | ||
| NR_165383.1:n.762G>A (CCDC78) | ||
| NR_165384.1:n.727G>A (CCDC78) | ||
| NR_165385.1:n.998G>A (CCDC78) | ||
| NR_165386.1:n.894G>A (CCDC78) |