Linked Data
ClinVar Variation Id:
128634
dbSNP Id:
rs148595483
ExAC:
16:774193 G / T
gnomAD v2:
16-774193-G-T
gnomAD v3:
16-724193-G-T
gnomAD v4:
16-724193-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.724193G>T , CM000678.2:g.724193G>T | GRCh38 |
| NC_000016.9:g.774193G>T , CM000678.1:g.774193G>T | GRCh37 |
| NC_000016.8:g.714194G>T | NCBI36 |
| NG_032932.1:g.7281C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1509C>A (CCDC78) | ||
| ENST00000345165.10:c.966C>A (CCDC78) MANE Select | ENSP00000316851.5:p.Asn322Lys | |
| ENST00000293889.10:c.966C>A (CCDC78) | ENSP00000293889.6:p.Asn322Lys | |
| ENST00000345165.8:c.512C>A (CCDC78) | ||
| ENST00000463539.5:n.1288C>A (CCDC78) | ||
| ENST00000466708.5:n.1310C>A (CCDC78) | ||
| ENST00000478979.5:n.1444C>A (CCDC78) | ||
| ENST00000481804.5:n.1944C>A (CCDC78) | ||
| ENST00000482152.1:n.327C>A (CCDC78) | ||
| ENST00000482878.5:n.1847C>A (CCDC78) | ||
| ENST00000485091.5:n.1119C>A (CCDC78) | ||
| ENST00000620831.4:c.-49-38439G>T (MSLN) | ENSP00000482893.1:n.-49-38439G>T | |
| NM_001031737.2:c.966C>A (CCDC78) | NP_001026907.2:p.Asn322Lys | |
| XM_006720838.1:c.1188C>A (CCDC78) | XP_006720901.1:p.Asn396Lys | |
| XM_006720843.2:c.966C>A (CCDC78) | XP_006720906.1:p.Asn322Lys | |
| XM_011522356.1:c.1413C>A (CCDC78) | XP_011520658.1:p.Asn471Lys | |
| XM_011522357.1:c.1401C>A (CCDC78) | XP_011520659.1:p.Asn467Lys | |
| XM_011522358.1:c.1413C>A (CCDC78) | XP_011520660.1:p.Asn471Lys | |
| XM_011522359.1:c.1380C>A (CCDC78) | XP_011520661.1:p.Asn460Lys | |
| XM_011522360.1:c.1368C>A (CCDC78) | XP_011520662.1:p.Asn456Lys | |
| XM_011522361.1:c.1413C>A (CCDC78) | XP_011520663.1:p.Asn471Lys | |
| XM_011522362.1:c.1413C>A (CCDC78) | XP_011520664.1:p.Asn471Lys | |
| XM_011522363.1:c.1413C>A (CCDC78) | XP_011520665.1:p.Asn471Lys | |
| XM_011522364.1:c.1413C>A (CCDC78) | XP_011520666.1:p.Asn471Lys | |
| XM_011522365.1:c.1200C>A (CCDC78) | XP_011520667.1:p.Asn400Lys | |
| XM_011522366.1:c.1191C>A (CCDC78) | XP_011520668.1:p.Asn397Lys | |
| XM_011522367.1:c.1032C>A (CCDC78) | XP_011520669.1:p.Asn344Lys | |
| XM_011522368.1:c.1020C>A (CCDC78) | XP_011520670.1:p.Asn340Lys | |
| XM_011522369.1:c.978C>A (CCDC78) | XP_011520671.1:p.Asn326Lys | |
| XM_011522370.1:c.810C>A (CCDC78) | XP_011520672.1:p.Asn270Lys | |
| XM_011522371.1:c.525C>A (CCDC78) | XP_011520673.1:p.Asn175Lys | |
| XM_006720843.4:c.966C>A (CCDC78) | XP_006720906.1:p.Asn322Lys | |
| XM_011522358.2:c.1413C>A (CCDC78) | XP_011520660.1:p.Asn471Lys | |
| XM_011522371.2:c.525C>A (CCDC78) | XP_011520673.1:p.Asn175Lys | |
| XM_017022929.1:c.1413C>A (CCDC78) | XP_016878418.1:p.Asn471Lys | |
| XM_017022930.1:c.513C>A (CCDC78) | XP_016878419.1:p.Asn171Lys | |
| XM_024450150.1:c.243C>A (CCDC78) | XP_024305918.1:p.Asn81Lys | |
| XR_001751835.1:n.1752C>A (CCDC78) | ||
| XR_001751836.1:n.1731C>A (CCDC78) | ||
| XR_001751837.1:n.1509C>A (CCDC78) | ||
| XR_001751838.1:n.1855C>A (CCDC78) | ||
| XR_001751839.1:n.1317C>A (CCDC78) | ||
| NM_001031737.3:c.966C>A (CCDC78) | NP_001026907.2:p.Asn322Lys | |
| NM_001378030.1:c.966C>A (CCDC78) MANE Select | NP_001364959.1:p.Asn322Lys | |
| NM_001378031.1:c.953+129C>A (CCDC78) | NP_001364960.1:n.953+129C>A | |
| NM_001378033.1:c.399C>A (CCDC78) | NP_001364962.1:p.Asn133Lys | |
| NR_165382.1:n.1523C>A (CCDC78) | ||
| NR_165383.1:n.1169C>A (CCDC78) | ||
| NR_165384.1:n.1134C>A (CCDC78) | ||
| NR_165385.1:n.1234C>A (CCDC78) | ||
| NR_165386.1:n.1301C>A (CCDC78) |