Linked Data
dbSNP Id:
rs1462255507
gnomAD v2:
16-773888-C-T
gnomAD v3:
16-723888-C-T
gnomAD v4:
16-723888-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723888C>T , CM000678.2:g.723888C>T | GRCh38 |
| NC_000016.9:g.773888C>T , CM000678.1:g.773888C>T | GRCh37 |
| NC_000016.8:g.713889C>T | NCBI36 |
| NG_032932.1:g.7586G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1645G>A (CCDC78) | ||
| ENST00000345165.10:c.1102G>A (CCDC78) MANE Select | ENSP00000316851.5:p.Gly368Arg | |
| ENST00000293889.10:c.1102G>A (CCDC78) | ENSP00000293889.6:p.Gly368Arg | |
| ENST00000345165.8:c.648G>A (CCDC78) | ||
| ENST00000463539.5:n.1424G>A (CCDC78) | ||
| ENST00000466708.5:n.1446G>A (CCDC78) | ||
| ENST00000478979.5:n.1749G>A (CCDC78) | ||
| ENST00000481804.5:n.2080G>A (CCDC78) | ||
| ENST00000482152.1:n.463G>A (CCDC78) | ||
| ENST00000482878.5:n.2152G>A (CCDC78) | ||
| ENST00000485091.5:n.1255G>A (CCDC78) | ||
| ENST00000620831.4:c.-49-38744C>T (MSLN) | ENSP00000482893.1:n.-49-38744C>T | |
| NM_001031737.2:c.1102G>A (CCDC78) | NP_001026907.2:p.Gly368Arg | |
| XM_006720838.1:c.1324G>A (CCDC78) | XP_006720901.1:p.Gly442Arg | |
| XM_006720843.2:c.1102G>A (CCDC78) | XP_006720906.1:p.Gly368Arg | |
| XM_011522356.1:c.1549G>A (CCDC78) | XP_011520658.1:p.Gly517Arg | |
| XM_011522357.1:c.1537G>A (CCDC78) | XP_011520659.1:p.Gly513Arg | |
| XM_011522358.1:c.1549G>A (CCDC78) | XP_011520660.1:p.Gly517Arg | |
| XM_011522359.1:c.1516G>A (CCDC78) | XP_011520661.1:p.Gly506Arg | |
| XM_011522360.1:c.1504G>A (CCDC78) | XP_011520662.1:p.Gly502Arg | |
| XM_011522361.1:c.1549G>A (CCDC78) | XP_011520663.1:p.Gly517Arg | |
| XM_011522362.1:c.1549G>A (CCDC78) | XP_011520664.1:p.Gly517Arg | |
| XM_011522363.1:c.1549G>A (CCDC78) | XP_011520665.1:p.Gly517Arg | |
| XM_011522364.1:c.1549G>A (CCDC78) | XP_011520666.1:p.Gly517Arg | |
| XM_011522365.1:c.1336G>A (CCDC78) | XP_011520667.1:p.Gly446Arg | |
| XM_011522366.1:c.1327G>A (CCDC78) | XP_011520668.1:p.Gly443Arg | |
| XM_011522367.1:c.1168G>A (CCDC78) | XP_011520669.1:p.Gly390Arg | |
| XM_011522368.1:c.1156G>A (CCDC78) | XP_011520670.1:p.Gly386Arg | |
| XM_011522369.1:c.1114G>A (CCDC78) | XP_011520671.1:p.Gly372Arg | |
| XM_011522370.1:c.946G>A (CCDC78) | XP_011520672.1:p.Gly316Arg | |
| XM_011522371.1:c.661G>A (CCDC78) | XP_011520673.1:p.Gly221Arg | |
| XM_006720843.4:c.1102G>A (CCDC78) | XP_006720906.1:p.Gly368Arg | |
| XM_011522358.2:c.1549G>A (CCDC78) | XP_011520660.1:p.Gly517Arg | |
| XM_011522371.2:c.661G>A (CCDC78) | XP_011520673.1:p.Gly221Arg | |
| XM_017022929.1:c.1549G>A (CCDC78) | XP_016878418.1:p.Gly517Arg | |
| XM_017022930.1:c.649G>A (CCDC78) | XP_016878419.1:p.Gly217Arg | |
| XM_017022931.1:c.-152G>A (CCDC78) | XP_016878420.1:n.-152G>A | |
| XM_024450150.1:c.379G>A (CCDC78) | XP_024305918.1:p.Gly127Arg | |
| XR_001751835.1:n.1888G>A (CCDC78) | ||
| XR_001751836.1:n.1867G>A (CCDC78) | ||
| XR_001751837.1:n.1645G>A (CCDC78) | ||
| XR_001751838.1:n.1991G>A (CCDC78) | ||
| XR_001751839.1:n.1453G>A (CCDC78) | ||
| NM_001031737.3:c.1102G>A (CCDC78) | NP_001026907.2:p.Gly368Arg | |
| NM_001378030.1:c.1102G>A (CCDC78) MANE Select | NP_001364959.1:p.Gly368Arg | |
| NM_001378031.1:c.953+434G>A (CCDC78) | NP_001364960.1:n.953+434G>A | |
| NM_001378033.1:c.535G>A (CCDC78) | NP_001364962.1:p.Gly179Arg | |
| NR_165382.1:n.1659G>A (CCDC78) | ||
| NR_165383.1:n.1305G>A (CCDC78) | ||
| NR_165384.1:n.1270G>A (CCDC78) | ||
| NR_165385.1:n.1370G>A (CCDC78) | ||
| NR_165386.1:n.1437G>A (CCDC78) |