Linked Data
ClinVar Variation Id:
473252
dbSNP Id:
rs760280521
ExAC:
16:772948 C / T
gnomAD v2:
16-772948-C-T
gnomAD v3:
16-722948-C-T
gnomAD v4:
16-722948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.722948C>T , CM000678.2:g.722948C>T | GRCh38 |
| NC_000016.9:g.772948C>T , CM000678.1:g.772948C>T | GRCh37 |
| NC_000016.8:g.712949C>T | NCBI36 |
| NG_032932.1:g.8526G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1843G>A (CCDC78) | ||
| ENST00000345165.10:c.1275G>A (CCDC78) MANE Select | ENSP00000316851.5:p.Gln425= | |
| ENST00000293889.10:c.1271G>A (CCDC78) | ENSP00000293889.6:p.Arg424Lys | |
| ENST00000345165.8:c.821G>A (CCDC78) | ||
| ENST00000463539.5:n.1597G>A (CCDC78) | ||
| ENST00000466708.5:n.1619G>A (CCDC78) | ||
| ENST00000478979.5:n.2689G>A (CCDC78) | ||
| ENST00000481804.5:n.3020G>A (CCDC78) | ||
| ENST00000482152.1:n.708G>A (CCDC78) | ||
| ENST00000482878.5:n.3092G>A (CCDC78) | ||
| ENST00000485091.5:n.1500G>A (CCDC78) | ||
| ENST00000620831.4:c.-49-39684C>T (MSLN) | ENSP00000482893.1:n.-49-39684C>T | |
| NM_001031737.2:c.1271G>A (CCDC78) | NP_001026907.2:p.Arg424Lys | |
| XM_006720838.1:c.1569G>A (CCDC78) | XP_006720901.1:p.Gln523= | |
| XM_006720843.2:c.1347G>A (CCDC78) | XP_006720906.1:p.Gln449= | |
| XM_011522356.1:c.1794G>A (CCDC78) | XP_011520658.1:p.Gln598= | |
| XM_011522357.1:c.1782G>A (CCDC78) | XP_011520659.1:p.Gln594= | |
| XM_011522358.1:c.1794G>A (CCDC78) | XP_011520660.1:p.Gln598= | |
| XM_011522359.1:c.1761G>A (CCDC78) | XP_011520661.1:p.Gln587= | |
| XM_011522360.1:c.1749G>A (CCDC78) | XP_011520662.1:p.Gln583= | |
| XM_011522361.1:c.1722G>A (CCDC78) | XP_011520663.1:p.Gln574= | |
| XM_011522362.1:c.1718G>A (CCDC78) | XP_011520664.1:p.Arg573Lys | |
| XM_011522363.1:c.1718G>A (CCDC78) | XP_011520665.1:p.Arg573Lys | |
| XM_011522364.1:c.1718G>A (CCDC78) | XP_011520666.1:p.Arg573Lys | |
| XM_011522365.1:c.1581G>A (CCDC78) | XP_011520667.1:p.Gln527= | |
| XM_011522366.1:c.1572G>A (CCDC78) | XP_011520668.1:p.Gln524= | |
| XM_011522367.1:c.1413G>A (CCDC78) | XP_011520669.1:p.Gln471= | |
| XM_011522368.1:c.1401G>A (CCDC78) | XP_011520670.1:p.Gln467= | |
| XM_011522369.1:c.1359G>A (CCDC78) | XP_011520671.1:p.Gln453= | |
| XM_011522370.1:c.1191G>A (CCDC78) | XP_011520672.1:p.Gln397= | |
| XM_011522371.1:c.906G>A (CCDC78) | XP_011520673.1:p.Gln302= | |
| XM_006720843.4:c.1347G>A (CCDC78) | XP_006720906.1:p.Gln449= | |
| XM_011522358.2:c.1794G>A (CCDC78) | XP_011520660.1:p.Gln598= | |
| XM_011522371.2:c.906G>A (CCDC78) | XP_011520673.1:p.Gln302= | |
| XM_017022929.1:c.1722G>A (CCDC78) | XP_016878418.1:p.Gln574= | |
| XM_017022930.1:c.894G>A (CCDC78) | XP_016878419.1:p.Gln298= | |
| XM_017022931.1:c.717G>A (CCDC78) | XP_016878420.1:p.Gln239= | |
| XM_024450150.1:c.552G>A (CCDC78) | XP_024305918.1:p.Gln184= | |
| XR_001751835.1:n.2061G>A (CCDC78) | ||
| XR_001751836.1:n.2040G>A (CCDC78) | ||
| XR_001751837.1:n.1818G>A (CCDC78) | ||
| XR_001751838.1:n.2164G>A (CCDC78) | ||
| XR_001751839.1:n.1626G>A (CCDC78) | ||
| NM_001031737.3:c.1271G>A (CCDC78) | NP_001026907.2:p.Arg424Lys | |
| NM_001378030.1:c.1275G>A (CCDC78) MANE Select | NP_001364959.1:p.Gln425= | |
| NM_001378031.1:c.1095G>A (CCDC78) | NP_001364960.1:p.Gln365= | |
| NM_001378033.1:c.708G>A (CCDC78) | NP_001364962.1:p.Gln236= | |
| NR_165382.1:n.1904G>A (CCDC78) | ||
| NR_165383.1:n.1478G>A (CCDC78) | ||
| NR_165384.1:n.1443G>A (CCDC78) | ||
| NR_165385.1:n.1543G>A (CCDC78) | ||
| NR_165386.1:n.1610G>A (CCDC78) |