Linked Data
ClinVar Variation Id:
2307704
ClinVar RCV Id:
RCV002884051
dbSNP Id:
rs907111705
gnomAD v4:
16-723885-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723885C>T , CM000678.2:g.723885C>T | GRCh38 |
| NC_000016.9:g.773885C>T , CM000678.1:g.773885C>T | GRCh37 |
| NC_000016.8:g.713886C>T | NCBI36 |
| NG_032932.1:g.7589G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1648G>A (CCDC78) | ||
| ENST00000345165.10:c.1105G>A (CCDC78) MANE Select | ENSP00000316851.5:p.Ala369Thr | |
| ENST00000293889.10:c.1105G>A (CCDC78) | ENSP00000293889.6:p.Ala369Thr | |
| ENST00000345165.8:c.651G>A (CCDC78) | ||
| ENST00000463539.5:n.1427G>A (CCDC78) | ||
| ENST00000466708.5:n.1449G>A (CCDC78) | ||
| ENST00000478979.5:n.1752G>A (CCDC78) | ||
| ENST00000481804.5:n.2083G>A (CCDC78) | ||
| ENST00000482152.1:n.466G>A (CCDC78) | ||
| ENST00000482878.5:n.2155G>A (CCDC78) | ||
| ENST00000485091.5:n.1258G>A (CCDC78) | ||
| ENST00000620831.4:c.-49-38747C>T (MSLN) | ENSP00000482893.1:n.-49-38747C>T | |
| NM_001031737.2:c.1105G>A (CCDC78) | NP_001026907.2:p.Ala369Thr | |
| XM_006720838.1:c.1327G>A (CCDC78) | XP_006720901.1:p.Ala443Thr | |
| XM_006720843.2:c.1105G>A (CCDC78) | XP_006720906.1:p.Ala369Thr | |
| XM_011522356.1:c.1552G>A (CCDC78) | XP_011520658.1:p.Ala518Thr | |
| XM_011522357.1:c.1540G>A (CCDC78) | XP_011520659.1:p.Ala514Thr | |
| XM_011522358.1:c.1552G>A (CCDC78) | XP_011520660.1:p.Ala518Thr | |
| XM_011522359.1:c.1519G>A (CCDC78) | XP_011520661.1:p.Ala507Thr | |
| XM_011522360.1:c.1507G>A (CCDC78) | XP_011520662.1:p.Ala503Thr | |
| XM_011522361.1:c.1552G>A (CCDC78) | XP_011520663.1:p.Ala518Thr | |
| XM_011522362.1:c.1552G>A (CCDC78) | XP_011520664.1:p.Ala518Thr | |
| XM_011522363.1:c.1552G>A (CCDC78) | XP_011520665.1:p.Ala518Thr | |
| XM_011522364.1:c.1552G>A (CCDC78) | XP_011520666.1:p.Ala518Thr | |
| XM_011522365.1:c.1339G>A (CCDC78) | XP_011520667.1:p.Ala447Thr | |
| XM_011522366.1:c.1330G>A (CCDC78) | XP_011520668.1:p.Ala444Thr | |
| XM_011522367.1:c.1171G>A (CCDC78) | XP_011520669.1:p.Ala391Thr | |
| XM_011522368.1:c.1159G>A (CCDC78) | XP_011520670.1:p.Ala387Thr | |
| XM_011522369.1:c.1117G>A (CCDC78) | XP_011520671.1:p.Ala373Thr | |
| XM_011522370.1:c.949G>A (CCDC78) | XP_011520672.1:p.Ala317Thr | |
| XM_011522371.1:c.664G>A (CCDC78) | XP_011520673.1:p.Ala222Thr | |
| XM_006720843.4:c.1105G>A (CCDC78) | XP_006720906.1:p.Ala369Thr | |
| XM_011522358.2:c.1552G>A (CCDC78) | XP_011520660.1:p.Ala518Thr | |
| XM_011522371.2:c.664G>A (CCDC78) | XP_011520673.1:p.Ala222Thr | |
| XM_017022929.1:c.1552G>A (CCDC78) | XP_016878418.1:p.Ala518Thr | |
| XM_017022930.1:c.652G>A (CCDC78) | XP_016878419.1:p.Ala218Thr | |
| XM_017022931.1:c.-149G>A (CCDC78) | XP_016878420.1:n.-149G>A | |
| XM_024450150.1:c.382G>A (CCDC78) | XP_024305918.1:p.Ala128Thr | |
| XR_001751835.1:n.1891G>A (CCDC78) | ||
| XR_001751836.1:n.1870G>A (CCDC78) | ||
| XR_001751837.1:n.1648G>A (CCDC78) | ||
| XR_001751838.1:n.1994G>A (CCDC78) | ||
| XR_001751839.1:n.1456G>A (CCDC78) | ||
| NM_001031737.3:c.1105G>A (CCDC78) | NP_001026907.2:p.Ala369Thr | |
| NM_001378030.1:c.1105G>A (CCDC78) MANE Select | NP_001364959.1:p.Ala369Thr | |
| NM_001378031.1:c.953+437G>A (CCDC78) | NP_001364960.1:n.953+437G>A | |
| NM_001378033.1:c.538G>A (CCDC78) | NP_001364962.1:p.Ala180Thr | |
| NR_165382.1:n.1662G>A (CCDC78) | ||
| NR_165383.1:n.1308G>A (CCDC78) | ||
| NR_165384.1:n.1273G>A (CCDC78) | ||
| NR_165385.1:n.1373G>A (CCDC78) | ||
| NR_165386.1:n.1440G>A (CCDC78) |