Linked Data
dbSNP Id:
rs759668390
ExAC:
16:773894 G / T
gnomAD v2:
16-773894-G-T
gnomAD v4:
16-723894-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723894G>T , CM000678.2:g.723894G>T | GRCh38 |
| NC_000016.9:g.773894G>T , CM000678.1:g.773894G>T | GRCh37 |
| NC_000016.8:g.713895G>T | NCBI36 |
| NG_032932.1:g.7580C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1639C>A (CCDC78) | ||
| ENST00000345165.10:c.1096C>A (CCDC78) MANE Select | ENSP00000316851.5:p.Pro366Thr | |
| ENST00000293889.10:c.1096C>A (CCDC78) | ENSP00000293889.6:p.Pro366Thr | |
| ENST00000345165.8:c.642C>A (CCDC78) | ||
| ENST00000463539.5:n.1418C>A (CCDC78) | ||
| ENST00000466708.5:n.1440C>A (CCDC78) | ||
| ENST00000478979.5:n.1743C>A (CCDC78) | ||
| ENST00000481804.5:n.2074C>A (CCDC78) | ||
| ENST00000482152.1:n.457C>A (CCDC78) | ||
| ENST00000482878.5:n.2146C>A (CCDC78) | ||
| ENST00000485091.5:n.1249C>A (CCDC78) | ||
| ENST00000620831.4:c.-49-38738G>T (MSLN) | ENSP00000482893.1:n.-49-38738G>T | |
| NM_001031737.2:c.1096C>A (CCDC78) | NP_001026907.2:p.Pro366Thr | |
| XM_006720838.1:c.1318C>A (CCDC78) | XP_006720901.1:p.Pro440Thr | |
| XM_006720843.2:c.1096C>A (CCDC78) | XP_006720906.1:p.Pro366Thr | |
| XM_011522356.1:c.1543C>A (CCDC78) | XP_011520658.1:p.Pro515Thr | |
| XM_011522357.1:c.1531C>A (CCDC78) | XP_011520659.1:p.Pro511Thr | |
| XM_011522358.1:c.1543C>A (CCDC78) | XP_011520660.1:p.Pro515Thr | |
| XM_011522359.1:c.1510C>A (CCDC78) | XP_011520661.1:p.Pro504Thr | |
| XM_011522360.1:c.1498C>A (CCDC78) | XP_011520662.1:p.Pro500Thr | |
| XM_011522361.1:c.1543C>A (CCDC78) | XP_011520663.1:p.Pro515Thr | |
| XM_011522362.1:c.1543C>A (CCDC78) | XP_011520664.1:p.Pro515Thr | |
| XM_011522363.1:c.1543C>A (CCDC78) | XP_011520665.1:p.Pro515Thr | |
| XM_011522364.1:c.1543C>A (CCDC78) | XP_011520666.1:p.Pro515Thr | |
| XM_011522365.1:c.1330C>A (CCDC78) | XP_011520667.1:p.Pro444Thr | |
| XM_011522366.1:c.1321C>A (CCDC78) | XP_011520668.1:p.Pro441Thr | |
| XM_011522367.1:c.1162C>A (CCDC78) | XP_011520669.1:p.Pro388Thr | |
| XM_011522368.1:c.1150C>A (CCDC78) | XP_011520670.1:p.Pro384Thr | |
| XM_011522369.1:c.1108C>A (CCDC78) | XP_011520671.1:p.Pro370Thr | |
| XM_011522370.1:c.940C>A (CCDC78) | XP_011520672.1:p.Pro314Thr | |
| XM_011522371.1:c.655C>A (CCDC78) | XP_011520673.1:p.Pro219Thr | |
| XM_006720843.4:c.1096C>A (CCDC78) | XP_006720906.1:p.Pro366Thr | |
| XM_011522358.2:c.1543C>A (CCDC78) | XP_011520660.1:p.Pro515Thr | |
| XM_011522371.2:c.655C>A (CCDC78) | XP_011520673.1:p.Pro219Thr | |
| XM_017022929.1:c.1543C>A (CCDC78) | XP_016878418.1:p.Pro515Thr | |
| XM_017022930.1:c.643C>A (CCDC78) | XP_016878419.1:p.Pro215Thr | |
| XM_017022931.1:c.-158C>A (CCDC78) | XP_016878420.1:n.-158C>A | |
| XM_024450150.1:c.373C>A (CCDC78) | XP_024305918.1:p.Pro125Thr | |
| XR_001751835.1:n.1882C>A (CCDC78) | ||
| XR_001751836.1:n.1861C>A (CCDC78) | ||
| XR_001751837.1:n.1639C>A (CCDC78) | ||
| XR_001751838.1:n.1985C>A (CCDC78) | ||
| XR_001751839.1:n.1447C>A (CCDC78) | ||
| NM_001031737.3:c.1096C>A (CCDC78) | NP_001026907.2:p.Pro366Thr | |
| NM_001378030.1:c.1096C>A (CCDC78) MANE Select | NP_001364959.1:p.Pro366Thr | |
| NM_001378031.1:c.953+428C>A (CCDC78) | NP_001364960.1:n.953+428C>A | |
| NM_001378033.1:c.529C>A (CCDC78) | NP_001364962.1:p.Pro177Thr | |
| NR_165382.1:n.1653C>A (CCDC78) | ||
| NR_165383.1:n.1299C>A (CCDC78) | ||
| NR_165384.1:n.1264C>A (CCDC78) | ||
| NR_165385.1:n.1364C>A (CCDC78) | ||
| NR_165386.1:n.1431C>A (CCDC78) |