Linked Data
ClinVar Variation Id:
1445500
ClinVar RCV Id:
RCV001992613
dbSNP Id:
rs767325446
gnomAD v2:
16-773920-G-A
gnomAD v4:
16-723920-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723920G>A , CM000678.2:g.723920G>A | GRCh38 |
| NC_000016.9:g.773920G>A , CM000678.1:g.773920G>A | GRCh37 |
| NC_000016.8:g.713921G>A | NCBI36 |
| NG_032932.1:g.7554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1613C>T (CCDC78) | ||
| ENST00000345165.10:c.1070C>T (CCDC78) MANE Select | ENSP00000316851.5:p.Ala357Val | |
| ENST00000293889.10:c.1070C>T (CCDC78) | ENSP00000293889.6:p.Ala357Val | |
| ENST00000345165.8:c.616C>T (CCDC78) | ||
| ENST00000463539.5:n.1392C>T (CCDC78) | ||
| ENST00000466708.5:n.1414C>T (CCDC78) | ||
| ENST00000478979.5:n.1717C>T (CCDC78) | ||
| ENST00000481804.5:n.2048C>T (CCDC78) | ||
| ENST00000482152.1:n.431C>T (CCDC78) | ||
| ENST00000482878.5:n.2120C>T (CCDC78) | ||
| ENST00000485091.5:n.1223C>T (CCDC78) | ||
| ENST00000620831.4:c.-49-38712G>A (MSLN) | ENSP00000482893.1:n.-49-38712G>A | |
| NM_001031737.2:c.1070C>T (CCDC78) | NP_001026907.2:p.Ala357Val | |
| XM_006720838.1:c.1292C>T (CCDC78) | XP_006720901.1:p.Ala431Val | |
| XM_006720843.2:c.1070C>T (CCDC78) | XP_006720906.1:p.Ala357Val | |
| XM_011522356.1:c.1517C>T (CCDC78) | XP_011520658.1:p.Ala506Val | |
| XM_011522357.1:c.1505C>T (CCDC78) | XP_011520659.1:p.Ala502Val | |
| XM_011522358.1:c.1517C>T (CCDC78) | XP_011520660.1:p.Ala506Val | |
| XM_011522359.1:c.1484C>T (CCDC78) | XP_011520661.1:p.Ala495Val | |
| XM_011522360.1:c.1472C>T (CCDC78) | XP_011520662.1:p.Ala491Val | |
| XM_011522361.1:c.1517C>T (CCDC78) | XP_011520663.1:p.Ala506Val | |
| XM_011522362.1:c.1517C>T (CCDC78) | XP_011520664.1:p.Ala506Val | |
| XM_011522363.1:c.1517C>T (CCDC78) | XP_011520665.1:p.Ala506Val | |
| XM_011522364.1:c.1517C>T (CCDC78) | XP_011520666.1:p.Ala506Val | |
| XM_011522365.1:c.1304C>T (CCDC78) | XP_011520667.1:p.Ala435Val | |
| XM_011522366.1:c.1295C>T (CCDC78) | XP_011520668.1:p.Ala432Val | |
| XM_011522367.1:c.1136C>T (CCDC78) | XP_011520669.1:p.Ala379Val | |
| XM_011522368.1:c.1124C>T (CCDC78) | XP_011520670.1:p.Ala375Val | |
| XM_011522369.1:c.1082C>T (CCDC78) | XP_011520671.1:p.Ala361Val | |
| XM_011522370.1:c.914C>T (CCDC78) | XP_011520672.1:p.Ala305Val | |
| XM_011522371.1:c.629C>T (CCDC78) | XP_011520673.1:p.Ala210Val | |
| XM_006720843.4:c.1070C>T (CCDC78) | XP_006720906.1:p.Ala357Val | |
| XM_011522358.2:c.1517C>T (CCDC78) | XP_011520660.1:p.Ala506Val | |
| XM_011522371.2:c.629C>T (CCDC78) | XP_011520673.1:p.Ala210Val | |
| XM_017022929.1:c.1517C>T (CCDC78) | XP_016878418.1:p.Ala506Val | |
| XM_017022930.1:c.617C>T (CCDC78) | XP_016878419.1:p.Ala206Val | |
| XM_017022931.1:c.-184C>T (CCDC78) | XP_016878420.1:n.-184C>T | |
| XM_024450150.1:c.347C>T (CCDC78) | XP_024305918.1:p.Ala116Val | |
| XR_001751835.1:n.1856C>T (CCDC78) | ||
| XR_001751836.1:n.1835C>T (CCDC78) | ||
| XR_001751837.1:n.1613C>T (CCDC78) | ||
| XR_001751838.1:n.1959C>T (CCDC78) | ||
| XR_001751839.1:n.1421C>T (CCDC78) | ||
| NM_001031737.3:c.1070C>T (CCDC78) | NP_001026907.2:p.Ala357Val | |
| NM_001378030.1:c.1070C>T (CCDC78) MANE Select | NP_001364959.1:p.Ala357Val | |
| NM_001378031.1:c.953+402C>T (CCDC78) | NP_001364960.1:n.953+402C>T | |
| NM_001378033.1:c.503C>T (CCDC78) | NP_001364962.1:p.Ala168Val | |
| NR_165382.1:n.1627C>T (CCDC78) | ||
| NR_165383.1:n.1273C>T (CCDC78) | ||
| NR_165384.1:n.1238C>T (CCDC78) | ||
| NR_165385.1:n.1338C>T (CCDC78) | ||
| NR_165386.1:n.1405C>T (CCDC78) |