Canonical Allele Identifier: CA394098731

Linked Data

gnomAD v4: 16-724114-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724114C>G , CM000678.2:g.724114C>G GRCh38
NC_000016.9:g.774114C>G , CM000678.1:g.774114C>G GRCh37
NC_000016.8:g.714115C>G NCBI36
NG_032932.1:g.7360G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1588G>C (CCDC78)
ENST00000345165.10:c.1045G>C (CCDC78) MANE Select ENSP00000316851.5:p.Glu349Gln
ENST00000293889.10:c.1045G>C (CCDC78) ENSP00000293889.6:p.Glu349Gln
ENST00000345165.8:c.591G>C (CCDC78)
ENST00000463539.5:n.1367G>C (CCDC78)
ENST00000466708.5:n.1389G>C (CCDC78)
ENST00000478979.5:n.1523G>C (CCDC78)
ENST00000481804.5:n.2023G>C (CCDC78)
ENST00000482152.1:n.406G>C (CCDC78)
ENST00000482878.5:n.1926G>C (CCDC78)
ENST00000485091.5:n.1198G>C (CCDC78)
ENST00000620831.4:c.-49-38518C>G (MSLN) ENSP00000482893.1:n.-49-38518C>G
NM_001031737.2:c.1045G>C (CCDC78) NP_001026907.2:p.Glu349Gln
XM_006720838.1:c.1267G>C (CCDC78) XP_006720901.1:p.Glu423Gln
XM_006720843.2:c.1045G>C (CCDC78) XP_006720906.1:p.Glu349Gln
XM_011522356.1:c.1492G>C (CCDC78) XP_011520658.1:p.Glu498Gln
XM_011522357.1:c.1480G>C (CCDC78) XP_011520659.1:p.Glu494Gln
XM_011522358.1:c.1492G>C (CCDC78) XP_011520660.1:p.Glu498Gln
XM_011522359.1:c.1459G>C (CCDC78) XP_011520661.1:p.Glu487Gln
XM_011522360.1:c.1447G>C (CCDC78) XP_011520662.1:p.Glu483Gln
XM_011522361.1:c.1492G>C (CCDC78) XP_011520663.1:p.Glu498Gln
XM_011522362.1:c.1492G>C (CCDC78) XP_011520664.1:p.Glu498Gln
XM_011522363.1:c.1492G>C (CCDC78) XP_011520665.1:p.Glu498Gln
XM_011522364.1:c.1492G>C (CCDC78) XP_011520666.1:p.Glu498Gln
XM_011522365.1:c.1279G>C (CCDC78) XP_011520667.1:p.Glu427Gln
XM_011522366.1:c.1270G>C (CCDC78) XP_011520668.1:p.Glu424Gln
XM_011522367.1:c.1111G>C (CCDC78) XP_011520669.1:p.Glu371Gln
XM_011522368.1:c.1099G>C (CCDC78) XP_011520670.1:p.Glu367Gln
XM_011522369.1:c.1057G>C (CCDC78) XP_011520671.1:p.Glu353Gln
XM_011522370.1:c.889G>C (CCDC78) XP_011520672.1:p.Glu297Gln
XM_011522371.1:c.604G>C (CCDC78) XP_011520673.1:p.Glu202Gln
XM_006720843.4:c.1045G>C (CCDC78) XP_006720906.1:p.Glu349Gln
XM_011522358.2:c.1492G>C (CCDC78) XP_011520660.1:p.Glu498Gln
XM_011522371.2:c.604G>C (CCDC78) XP_011520673.1:p.Glu202Gln
XM_017022929.1:c.1492G>C (CCDC78) XP_016878418.1:p.Glu498Gln
XM_017022930.1:c.592G>C (CCDC78) XP_016878419.1:p.Glu198Gln
XM_024450150.1:c.322G>C (CCDC78) XP_024305918.1:p.Glu108Gln
XR_001751835.1:n.1831G>C (CCDC78)
XR_001751836.1:n.1810G>C (CCDC78)
XR_001751837.1:n.1588G>C (CCDC78)
XR_001751838.1:n.1934G>C (CCDC78)
XR_001751839.1:n.1396G>C (CCDC78)
NM_001031737.3:c.1045G>C (CCDC78) NP_001026907.2:p.Glu349Gln
NM_001378030.1:c.1045G>C (CCDC78) MANE Select NP_001364959.1:p.Glu349Gln
NM_001378031.1:c.953+208G>C (CCDC78) NP_001364960.1:n.953+208G>C
NM_001378033.1:c.478G>C (CCDC78) NP_001364962.1:p.Glu160Gln
NR_165382.1:n.1602G>C (CCDC78)
NR_165383.1:n.1248G>C (CCDC78)
NR_165384.1:n.1213G>C (CCDC78)
NR_165385.1:n.1313G>C (CCDC78)
NR_165386.1:n.1380G>C (CCDC78)