Linked Data
ClinVar Variation Id:
2765737
ClinVar RCV Id:
RCV003532446
dbSNP Id:
rs2151547880
gnomAD v4:
16-723880-G-A
MyVariant Identifiers:
chr16:g.773880G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723880G>A , CM000678.2:g.723880G>A | GRCh38 |
| NC_000016.9:g.773880G>A , CM000678.1:g.773880G>A | GRCh37 |
| NC_000016.8:g.713881G>A | NCBI36 |
| NG_032932.1:g.7594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1653C>T (CCDC78) | ||
| ENST00000345165.10:c.1110C>T (CCDC78) MANE Select | ENSP00000316851.5:p.Ser370= | |
| ENST00000293889.10:c.1110C>T (CCDC78) | ENSP00000293889.6:p.Ser370= | |
| ENST00000345165.8:c.656C>T (CCDC78) | ||
| ENST00000463539.5:n.1432C>T (CCDC78) | ||
| ENST00000466708.5:n.1454C>T (CCDC78) | ||
| ENST00000478979.5:n.1757C>T (CCDC78) | ||
| ENST00000481804.5:n.2088C>T (CCDC78) | ||
| ENST00000482152.1:n.471C>T (CCDC78) | ||
| ENST00000482878.5:n.2160C>T (CCDC78) | ||
| ENST00000485091.5:n.1263C>T (CCDC78) | ||
| ENST00000620831.4:c.-49-38752G>A (MSLN) | ENSP00000482893.1:n.-49-38752G>A | |
| NM_001031737.2:c.1110C>T (CCDC78) | NP_001026907.2:p.Ser370= | |
| XM_006720838.1:c.1332C>T (CCDC78) | XP_006720901.1:p.Ser444= | |
| XM_006720843.2:c.1110C>T (CCDC78) | XP_006720906.1:p.Ser370= | |
| XM_011522356.1:c.1557C>T (CCDC78) | XP_011520658.1:p.Ser519= | |
| XM_011522357.1:c.1545C>T (CCDC78) | XP_011520659.1:p.Ser515= | |
| XM_011522358.1:c.1557C>T (CCDC78) | XP_011520660.1:p.Ser519= | |
| XM_011522359.1:c.1524C>T (CCDC78) | XP_011520661.1:p.Ser508= | |
| XM_011522360.1:c.1512C>T (CCDC78) | XP_011520662.1:p.Ser504= | |
| XM_011522361.1:c.1557C>T (CCDC78) | XP_011520663.1:p.Ser519= | |
| XM_011522362.1:c.1557C>T (CCDC78) | XP_011520664.1:p.Ser519= | |
| XM_011522363.1:c.1557C>T (CCDC78) | XP_011520665.1:p.Ser519= | |
| XM_011522364.1:c.1557C>T (CCDC78) | XP_011520666.1:p.Ser519= | |
| XM_011522365.1:c.1344C>T (CCDC78) | XP_011520667.1:p.Ser448= | |
| XM_011522366.1:c.1335C>T (CCDC78) | XP_011520668.1:p.Ser445= | |
| XM_011522367.1:c.1176C>T (CCDC78) | XP_011520669.1:p.Ser392= | |
| XM_011522368.1:c.1164C>T (CCDC78) | XP_011520670.1:p.Ser388= | |
| XM_011522369.1:c.1122C>T (CCDC78) | XP_011520671.1:p.Ser374= | |
| XM_011522370.1:c.954C>T (CCDC78) | XP_011520672.1:p.Ser318= | |
| XM_011522371.1:c.669C>T (CCDC78) | XP_011520673.1:p.Ser223= | |
| XM_006720843.4:c.1110C>T (CCDC78) | XP_006720906.1:p.Ser370= | |
| XM_011522358.2:c.1557C>T (CCDC78) | XP_011520660.1:p.Ser519= | |
| XM_011522371.2:c.669C>T (CCDC78) | XP_011520673.1:p.Ser223= | |
| XM_017022929.1:c.1557C>T (CCDC78) | XP_016878418.1:p.Ser519= | |
| XM_017022930.1:c.657C>T (CCDC78) | XP_016878419.1:p.Ser219= | |
| XM_017022931.1:c.-144C>T (CCDC78) | XP_016878420.1:n.-144C>T | |
| XM_024450150.1:c.387C>T (CCDC78) | XP_024305918.1:p.Ser129= | |
| XR_001751835.1:n.1896C>T (CCDC78) | ||
| XR_001751836.1:n.1875C>T (CCDC78) | ||
| XR_001751837.1:n.1653C>T (CCDC78) | ||
| XR_001751838.1:n.1999C>T (CCDC78) | ||
| XR_001751839.1:n.1461C>T (CCDC78) | ||
| NM_001031737.3:c.1110C>T (CCDC78) | NP_001026907.2:p.Ser370= | |
| NM_001378030.1:c.1110C>T (CCDC78) MANE Select | NP_001364959.1:p.Ser370= | |
| NM_001378031.1:c.953+442C>T (CCDC78) | NP_001364960.1:n.953+442C>T | |
| NM_001378033.1:c.543C>T (CCDC78) | NP_001364962.1:p.Ser181= | |
| NR_165382.1:n.1667C>T (CCDC78) | ||
| NR_165383.1:n.1313C>T (CCDC78) | ||
| NR_165384.1:n.1278C>T (CCDC78) | ||
| NR_165385.1:n.1378C>T (CCDC78) | ||
| NR_165386.1:n.1445C>T (CCDC78) |