Linked Data
ClinVar Variation Id:
425081
dbSNP Id:
rs369081589
ExAC:
16:772982 G / T
gnomAD v2:
16-772982-G-T
gnomAD v3:
16-722982-G-T
gnomAD v4:
16-722982-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.722982G>T , CM000678.2:g.722982G>T | GRCh38 |
| NC_000016.9:g.772982G>T , CM000678.1:g.772982G>T | GRCh37 |
| NC_000016.8:g.712983G>T | NCBI36 |
| NG_032932.1:g.8492C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1809C>A (CCDC78) | ||
| ENST00000345165.10:c.1241C>A (CCDC78) MANE Select | ENSP00000316851.5:p.Ala414Asp | |
| ENST00000293889.10:c.1237C>A (CCDC78) | ENSP00000293889.6:p.Pro413Thr | |
| ENST00000345165.8:c.787C>A (CCDC78) | ||
| ENST00000463539.5:n.1563C>A (CCDC78) | ||
| ENST00000466708.5:n.1585C>A (CCDC78) | ||
| ENST00000478979.5:n.2655C>A (CCDC78) | ||
| ENST00000481804.5:n.2986C>A (CCDC78) | ||
| ENST00000482152.1:n.674C>A (CCDC78) | ||
| ENST00000482878.5:n.3058C>A (CCDC78) | ||
| ENST00000485091.5:n.1466C>A (CCDC78) | ||
| ENST00000620831.4:c.-49-39650G>T (MSLN) | ENSP00000482893.1:n.-49-39650G>T | |
| NM_001031737.2:c.1237C>A (CCDC78) | NP_001026907.2:p.Pro413Thr | |
| XM_006720838.1:c.1535C>A (CCDC78) | XP_006720901.1:p.Ala512Asp | |
| XM_006720843.2:c.1313C>A (CCDC78) | XP_006720906.1:p.Ala438Asp | |
| XM_011522356.1:c.1760C>A (CCDC78) | XP_011520658.1:p.Ala587Asp | |
| XM_011522357.1:c.1748C>A (CCDC78) | XP_011520659.1:p.Ala583Asp | |
| XM_011522358.1:c.1760C>A (CCDC78) | XP_011520660.1:p.Ala587Asp | |
| XM_011522359.1:c.1727C>A (CCDC78) | XP_011520661.1:p.Ala576Asp | |
| XM_011522360.1:c.1715C>A (CCDC78) | XP_011520662.1:p.Ala572Asp | |
| XM_011522361.1:c.1688C>A (CCDC78) | XP_011520663.1:p.Ala563Asp | |
| XM_011522362.1:c.1684C>A (CCDC78) | XP_011520664.1:p.Pro562Thr | |
| XM_011522363.1:c.1684C>A (CCDC78) | XP_011520665.1:p.Pro562Thr | |
| XM_011522364.1:c.1684C>A (CCDC78) | XP_011520666.1:p.Pro562Thr | |
| XM_011522365.1:c.1547C>A (CCDC78) | XP_011520667.1:p.Ala516Asp | |
| XM_011522366.1:c.1538C>A (CCDC78) | XP_011520668.1:p.Ala513Asp | |
| XM_011522367.1:c.1379C>A (CCDC78) | XP_011520669.1:p.Ala460Asp | |
| XM_011522368.1:c.1367C>A (CCDC78) | XP_011520670.1:p.Ala456Asp | |
| XM_011522369.1:c.1325C>A (CCDC78) | XP_011520671.1:p.Ala442Asp | |
| XM_011522370.1:c.1157C>A (CCDC78) | XP_011520672.1:p.Ala386Asp | |
| XM_011522371.1:c.872C>A (CCDC78) | XP_011520673.1:p.Ala291Asp | |
| XM_006720843.4:c.1313C>A (CCDC78) | XP_006720906.1:p.Ala438Asp | |
| XM_011522358.2:c.1760C>A (CCDC78) | XP_011520660.1:p.Ala587Asp | |
| XM_011522371.2:c.872C>A (CCDC78) | XP_011520673.1:p.Ala291Asp | |
| XM_017022929.1:c.1688C>A (CCDC78) | XP_016878418.1:p.Ala563Asp | |
| XM_017022930.1:c.860C>A (CCDC78) | XP_016878419.1:p.Ala287Asp | |
| XM_017022931.1:c.683C>A (CCDC78) | XP_016878420.1:p.Ala228Asp | |
| XM_024450150.1:c.518C>A (CCDC78) | XP_024305918.1:p.Ala173Asp | |
| XR_001751835.1:n.2027C>A (CCDC78) | ||
| XR_001751836.1:n.2006C>A (CCDC78) | ||
| XR_001751837.1:n.1784C>A (CCDC78) | ||
| XR_001751838.1:n.2130C>A (CCDC78) | ||
| XR_001751839.1:n.1592C>A (CCDC78) | ||
| NM_001031737.3:c.1237C>A (CCDC78) | NP_001026907.2:p.Pro413Thr | |
| NM_001378030.1:c.1241C>A (CCDC78) MANE Select | NP_001364959.1:p.Ala414Asp | |
| NM_001378031.1:c.1061C>A (CCDC78) | NP_001364960.1:p.Ala354Asp | |
| NM_001378033.1:c.674C>A (CCDC78) | NP_001364962.1:p.Ala225Asp | |
| NR_165382.1:n.1870C>A (CCDC78) | ||
| NR_165383.1:n.1444C>A (CCDC78) | ||
| NR_165384.1:n.1409C>A (CCDC78) | ||
| NR_165385.1:n.1509C>A (CCDC78) | ||
| NR_165386.1:n.1576C>A (CCDC78) |