Linked Data
dbSNP Id:
rs557567837
ExAC:
16:773884 G / A
gnomAD v2:
16-773884-G-A
gnomAD v3:
16-723884-G-A
gnomAD v4:
16-723884-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723884G>A , CM000678.2:g.723884G>A | GRCh38 |
| NC_000016.9:g.773884G>A , CM000678.1:g.773884G>A | GRCh37 |
| NC_000016.8:g.713885G>A | NCBI36 |
| NG_032932.1:g.7590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1649C>T (CCDC78) | ||
| ENST00000345165.10:c.1106C>T (CCDC78) MANE Select | ENSP00000316851.5:p.Ala369Val | |
| ENST00000293889.10:c.1106C>T (CCDC78) | ENSP00000293889.6:p.Ala369Val | |
| ENST00000345165.8:c.652C>T (CCDC78) | ||
| ENST00000463539.5:n.1428C>T (CCDC78) | ||
| ENST00000466708.5:n.1450C>T (CCDC78) | ||
| ENST00000478979.5:n.1753C>T (CCDC78) | ||
| ENST00000481804.5:n.2084C>T (CCDC78) | ||
| ENST00000482152.1:n.467C>T (CCDC78) | ||
| ENST00000482878.5:n.2156C>T (CCDC78) | ||
| ENST00000485091.5:n.1259C>T (CCDC78) | ||
| ENST00000620831.4:c.-49-38748G>A (MSLN) | ENSP00000482893.1:n.-49-38748G>A | |
| NM_001031737.2:c.1106C>T (CCDC78) | NP_001026907.2:p.Ala369Val | |
| XM_006720838.1:c.1328C>T (CCDC78) | XP_006720901.1:p.Ala443Val | |
| XM_006720843.2:c.1106C>T (CCDC78) | XP_006720906.1:p.Ala369Val | |
| XM_011522356.1:c.1553C>T (CCDC78) | XP_011520658.1:p.Ala518Val | |
| XM_011522357.1:c.1541C>T (CCDC78) | XP_011520659.1:p.Ala514Val | |
| XM_011522358.1:c.1553C>T (CCDC78) | XP_011520660.1:p.Ala518Val | |
| XM_011522359.1:c.1520C>T (CCDC78) | XP_011520661.1:p.Ala507Val | |
| XM_011522360.1:c.1508C>T (CCDC78) | XP_011520662.1:p.Ala503Val | |
| XM_011522361.1:c.1553C>T (CCDC78) | XP_011520663.1:p.Ala518Val | |
| XM_011522362.1:c.1553C>T (CCDC78) | XP_011520664.1:p.Ala518Val | |
| XM_011522363.1:c.1553C>T (CCDC78) | XP_011520665.1:p.Ala518Val | |
| XM_011522364.1:c.1553C>T (CCDC78) | XP_011520666.1:p.Ala518Val | |
| XM_011522365.1:c.1340C>T (CCDC78) | XP_011520667.1:p.Ala447Val | |
| XM_011522366.1:c.1331C>T (CCDC78) | XP_011520668.1:p.Ala444Val | |
| XM_011522367.1:c.1172C>T (CCDC78) | XP_011520669.1:p.Ala391Val | |
| XM_011522368.1:c.1160C>T (CCDC78) | XP_011520670.1:p.Ala387Val | |
| XM_011522369.1:c.1118C>T (CCDC78) | XP_011520671.1:p.Ala373Val | |
| XM_011522370.1:c.950C>T (CCDC78) | XP_011520672.1:p.Ala317Val | |
| XM_011522371.1:c.665C>T (CCDC78) | XP_011520673.1:p.Ala222Val | |
| XM_006720843.4:c.1106C>T (CCDC78) | XP_006720906.1:p.Ala369Val | |
| XM_011522358.2:c.1553C>T (CCDC78) | XP_011520660.1:p.Ala518Val | |
| XM_011522371.2:c.665C>T (CCDC78) | XP_011520673.1:p.Ala222Val | |
| XM_017022929.1:c.1553C>T (CCDC78) | XP_016878418.1:p.Ala518Val | |
| XM_017022930.1:c.653C>T (CCDC78) | XP_016878419.1:p.Ala218Val | |
| XM_017022931.1:c.-148C>T (CCDC78) | XP_016878420.1:n.-148C>T | |
| XM_024450150.1:c.383C>T (CCDC78) | XP_024305918.1:p.Ala128Val | |
| XR_001751835.1:n.1892C>T (CCDC78) | ||
| XR_001751836.1:n.1871C>T (CCDC78) | ||
| XR_001751837.1:n.1649C>T (CCDC78) | ||
| XR_001751838.1:n.1995C>T (CCDC78) | ||
| XR_001751839.1:n.1457C>T (CCDC78) | ||
| NM_001031737.3:c.1106C>T (CCDC78) | NP_001026907.2:p.Ala369Val | |
| NM_001378030.1:c.1106C>T (CCDC78) MANE Select | NP_001364959.1:p.Ala369Val | |
| NM_001378031.1:c.953+438C>T (CCDC78) | NP_001364960.1:n.953+438C>T | |
| NM_001378033.1:c.539C>T (CCDC78) | NP_001364962.1:p.Ala180Val | |
| NR_165382.1:n.1663C>T (CCDC78) | ||
| NR_165383.1:n.1309C>T (CCDC78) | ||
| NR_165384.1:n.1274C>T (CCDC78) | ||
| NR_165385.1:n.1374C>T (CCDC78) | ||
| NR_165386.1:n.1441C>T (CCDC78) |