Linked Data
ClinVar Variation Id:
473249
ClinVar RCV Id:
RCV000554592
dbSNP Id:
rs145971446
ExAC:
16:773887 C / T
gnomAD v2:
16-773887-C-T
gnomAD v3:
16-723887-C-T
gnomAD v4:
16-723887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723887C>T , CM000678.2:g.723887C>T | GRCh38 |
| NC_000016.9:g.773887C>T , CM000678.1:g.773887C>T | GRCh37 |
| NC_000016.8:g.713888C>T | NCBI36 |
| NG_032932.1:g.7587G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1646G>A (CCDC78) | ||
| ENST00000345165.10:c.1103G>A (CCDC78) MANE Select | ENSP00000316851.5:p.Gly368Glu | |
| ENST00000293889.10:c.1103G>A (CCDC78) | ENSP00000293889.6:p.Gly368Glu | |
| ENST00000345165.8:c.649G>A (CCDC78) | ||
| ENST00000463539.5:n.1425G>A (CCDC78) | ||
| ENST00000466708.5:n.1447G>A (CCDC78) | ||
| ENST00000478979.5:n.1750G>A (CCDC78) | ||
| ENST00000481804.5:n.2081G>A (CCDC78) | ||
| ENST00000482152.1:n.464G>A (CCDC78) | ||
| ENST00000482878.5:n.2153G>A (CCDC78) | ||
| ENST00000485091.5:n.1256G>A (CCDC78) | ||
| ENST00000620831.4:c.-49-38745C>T (MSLN) | ENSP00000482893.1:n.-49-38745C>T | |
| NM_001031737.2:c.1103G>A (CCDC78) | NP_001026907.2:p.Gly368Glu | |
| XM_006720838.1:c.1325G>A (CCDC78) | XP_006720901.1:p.Gly442Glu | |
| XM_006720843.2:c.1103G>A (CCDC78) | XP_006720906.1:p.Gly368Glu | |
| XM_011522356.1:c.1550G>A (CCDC78) | XP_011520658.1:p.Gly517Glu | |
| XM_011522357.1:c.1538G>A (CCDC78) | XP_011520659.1:p.Gly513Glu | |
| XM_011522358.1:c.1550G>A (CCDC78) | XP_011520660.1:p.Gly517Glu | |
| XM_011522359.1:c.1517G>A (CCDC78) | XP_011520661.1:p.Gly506Glu | |
| XM_011522360.1:c.1505G>A (CCDC78) | XP_011520662.1:p.Gly502Glu | |
| XM_011522361.1:c.1550G>A (CCDC78) | XP_011520663.1:p.Gly517Glu | |
| XM_011522362.1:c.1550G>A (CCDC78) | XP_011520664.1:p.Gly517Glu | |
| XM_011522363.1:c.1550G>A (CCDC78) | XP_011520665.1:p.Gly517Glu | |
| XM_011522364.1:c.1550G>A (CCDC78) | XP_011520666.1:p.Gly517Glu | |
| XM_011522365.1:c.1337G>A (CCDC78) | XP_011520667.1:p.Gly446Glu | |
| XM_011522366.1:c.1328G>A (CCDC78) | XP_011520668.1:p.Gly443Glu | |
| XM_011522367.1:c.1169G>A (CCDC78) | XP_011520669.1:p.Gly390Glu | |
| XM_011522368.1:c.1157G>A (CCDC78) | XP_011520670.1:p.Gly386Glu | |
| XM_011522369.1:c.1115G>A (CCDC78) | XP_011520671.1:p.Gly372Glu | |
| XM_011522370.1:c.947G>A (CCDC78) | XP_011520672.1:p.Gly316Glu | |
| XM_011522371.1:c.662G>A (CCDC78) | XP_011520673.1:p.Gly221Glu | |
| XM_006720843.4:c.1103G>A (CCDC78) | XP_006720906.1:p.Gly368Glu | |
| XM_011522358.2:c.1550G>A (CCDC78) | XP_011520660.1:p.Gly517Glu | |
| XM_011522371.2:c.662G>A (CCDC78) | XP_011520673.1:p.Gly221Glu | |
| XM_017022929.1:c.1550G>A (CCDC78) | XP_016878418.1:p.Gly517Glu | |
| XM_017022930.1:c.650G>A (CCDC78) | XP_016878419.1:p.Gly217Glu | |
| XM_017022931.1:c.-151G>A (CCDC78) | XP_016878420.1:n.-151G>A | |
| XM_024450150.1:c.380G>A (CCDC78) | XP_024305918.1:p.Gly127Glu | |
| XR_001751835.1:n.1889G>A (CCDC78) | ||
| XR_001751836.1:n.1868G>A (CCDC78) | ||
| XR_001751837.1:n.1646G>A (CCDC78) | ||
| XR_001751838.1:n.1992G>A (CCDC78) | ||
| XR_001751839.1:n.1454G>A (CCDC78) | ||
| NM_001031737.3:c.1103G>A (CCDC78) | NP_001026907.2:p.Gly368Glu | |
| NM_001378030.1:c.1103G>A (CCDC78) MANE Select | NP_001364959.1:p.Gly368Glu | |
| NM_001378031.1:c.953+435G>A (CCDC78) | NP_001364960.1:n.953+435G>A | |
| NM_001378033.1:c.536G>A (CCDC78) | NP_001364962.1:p.Gly179Glu | |
| NR_165382.1:n.1660G>A (CCDC78) | ||
| NR_165383.1:n.1306G>A (CCDC78) | ||
| NR_165384.1:n.1271G>A (CCDC78) | ||
| NR_165385.1:n.1371G>A (CCDC78) | ||
| NR_165386.1:n.1438G>A (CCDC78) |