Linked Data
ClinVar Variation Id:
473257
dbSNP Id:
rs745392382
ExAC:
16:775483 G / A
gnomAD v2:
16-775483-G-A
gnomAD v3:
16-725483-G-A
gnomAD v4:
16-725483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.725483G>A , CM000678.2:g.725483G>A | GRCh38 |
| NC_000016.9:g.775483G>A , CM000678.1:g.775483G>A | GRCh37 |
| NC_000016.8:g.715484G>A | NCBI36 |
| NG_032932.1:g.5991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423653.6:n.410C>T (CCDC78) | ||
| ENST00000682391.1:n.454C>T (CCDC78) | ||
| ENST00000345165.10:c.365C>T (CCDC78) MANE Select | ENSP00000316851.5:p.Pro122Leu | |
| ENST00000293889.10:c.365C>T (CCDC78) | ENSP00000293889.6:p.Pro122Leu | |
| ENST00000423653.5:c.-89C>T (CCDC78) | ENSP00000458590.1:n.-89C>T | |
| ENST00000439619.6:n.442C>T (CCDC78) | ||
| ENST00000460023.5:n.365C>T (CCDC78) | ||
| ENST00000463539.5:n.428C>T (CCDC78) | ||
| ENST00000466708.5:n.571C>T (CCDC78) | ||
| ENST00000471861.5:n.471C>T (CCDC78) | ||
| ENST00000474647.1:n.336-190C>T (CCDC78) | ||
| ENST00000478979.5:n.344-190C>T (CCDC78) | ||
| ENST00000481804.5:n.654C>T (CCDC78) | ||
| ENST00000482878.5:n.676C>T (CCDC78) | ||
| ENST00000485091.5:n.427C>T (CCDC78) | ||
| ENST00000538176.5:n.435C>T (CCDC78) | ||
| ENST00000544996.1:n.171C>T (CCDC78) | ||
| ENST00000620831.4:c.-49-37149G>A (MSLN) | ENSP00000482893.1:n.-49-37149G>A | |
| NM_001031737.2:c.365C>T (CCDC78) | NP_001026907.2:p.Pro122Leu | |
| XM_005255106.3:c.365C>T (CCDC78) | XP_005255163.1:p.Pro122Leu | |
| XM_006720838.1:c.587C>T (CCDC78) | XP_006720901.1:p.Pro196Leu | |
| XM_006720843.2:c.365C>T (CCDC78) | XP_006720906.1:p.Pro122Leu | |
| XM_011522356.1:c.800C>T (CCDC78) | XP_011520658.1:p.Pro267Leu | |
| XM_011522357.1:c.800C>T (CCDC78) | XP_011520659.1:p.Pro267Leu | |
| XM_011522358.1:c.800C>T (CCDC78) | XP_011520660.1:p.Pro267Leu | |
| XM_011522359.1:c.800C>T (CCDC78) | XP_011520661.1:p.Pro267Leu | |
| XM_011522360.1:c.800C>T (CCDC78) | XP_011520662.1:p.Pro267Leu | |
| XM_011522361.1:c.800C>T (CCDC78) | XP_011520663.1:p.Pro267Leu | |
| XM_011522362.1:c.800C>T (CCDC78) | XP_011520664.1:p.Pro267Leu | |
| XM_011522363.1:c.800C>T (CCDC78) | XP_011520665.1:p.Pro267Leu | |
| XM_011522364.1:c.800C>T (CCDC78) | XP_011520666.1:p.Pro267Leu | |
| XM_011522365.1:c.587C>T (CCDC78) | XP_011520667.1:p.Pro196Leu | |
| XM_011522366.1:c.578C>T (CCDC78) | XP_011520668.1:p.Pro193Leu | |
| XM_011522367.1:c.490-190C>T (CCDC78) | XP_011520669.1:n.490-190C>T | |
| XM_011522368.1:c.490-190C>T (CCDC78) | XP_011520670.1:n.490-190C>T | |
| XM_011522369.1:c.365C>T (CCDC78) | XP_011520671.1:p.Pro122Leu | |
| XM_011522370.1:c.268-190C>T (CCDC78) | XP_011520672.1:n.268-190C>T | |
| XM_011522371.1:c.-18-190C>T (CCDC78) | XP_011520673.1:n.-18-190C>T | |
| XM_006720843.4:c.365C>T (CCDC78) | XP_006720906.1:p.Pro122Leu | |
| XM_011522358.2:c.800C>T (CCDC78) | XP_011520660.1:p.Pro267Leu | |
| XM_011522371.2:c.-18-190C>T (CCDC78) | XP_011520673.1:n.-18-190C>T | |
| XM_017022929.1:c.800C>T (CCDC78) | XP_016878418.1:p.Pro267Leu | |
| XM_017022930.1:c.-89C>T (CCDC78) | XP_016878419.1:n.-89C>T | |
| XR_001751835.1:n.889C>T (CCDC78) | ||
| XR_001751836.1:n.676C>T (CCDC78) | ||
| XR_001751837.1:n.454C>T (CCDC78) | ||
| XR_001751838.1:n.833C>T (CCDC78) | ||
| XR_001751839.1:n.454C>T (CCDC78) | ||
| NM_001031737.3:c.365C>T (CCDC78) | NP_001026907.2:p.Pro122Leu | |
| NM_001378030.1:c.365C>T (CCDC78) MANE Select | NP_001364959.1:p.Pro122Leu | |
| NM_001378031.1:c.365C>T (CCDC78) | NP_001364960.1:p.Pro122Leu | |
| NM_001378033.1:c.-18-190C>T (CCDC78) | NP_001364962.1:n.-18-190C>T | |
| NR_165382.1:n.663C>T (CCDC78) | ||
| NR_165383.1:n.397C>T (CCDC78) | ||
| NR_165384.1:n.397C>T (CCDC78) | ||
| NR_165385.1:n.441C>T (CCDC78) | ||
| NR_165386.1:n.441C>T (CCDC78) |