Canonical Allele Identifier: CA394098720

Linked Data

gnomAD v4: 16-724113-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724113T>C , CM000678.2:g.724113T>C GRCh38
NC_000016.9:g.774113T>C , CM000678.1:g.774113T>C GRCh37
NC_000016.8:g.714114T>C NCBI36
NG_032932.1:g.7361A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1589A>G (CCDC78)
ENST00000345165.10:c.1046A>G (CCDC78) MANE Select ENSP00000316851.5:p.Glu349Gly
ENST00000293889.10:c.1046A>G (CCDC78) ENSP00000293889.6:p.Glu349Gly
ENST00000345165.8:c.592A>G (CCDC78)
ENST00000463539.5:n.1368A>G (CCDC78)
ENST00000466708.5:n.1390A>G (CCDC78)
ENST00000478979.5:n.1524A>G (CCDC78)
ENST00000481804.5:n.2024A>G (CCDC78)
ENST00000482152.1:n.407A>G (CCDC78)
ENST00000482878.5:n.1927A>G (CCDC78)
ENST00000485091.5:n.1199A>G (CCDC78)
ENST00000620831.4:c.-49-38519T>C (MSLN) ENSP00000482893.1:n.-49-38519T>C
NM_001031737.2:c.1046A>G (CCDC78) NP_001026907.2:p.Glu349Gly
XM_006720838.1:c.1268A>G (CCDC78) XP_006720901.1:p.Glu423Gly
XM_006720843.2:c.1046A>G (CCDC78) XP_006720906.1:p.Glu349Gly
XM_011522356.1:c.1493A>G (CCDC78) XP_011520658.1:p.Glu498Gly
XM_011522357.1:c.1481A>G (CCDC78) XP_011520659.1:p.Glu494Gly
XM_011522358.1:c.1493A>G (CCDC78) XP_011520660.1:p.Glu498Gly
XM_011522359.1:c.1460A>G (CCDC78) XP_011520661.1:p.Glu487Gly
XM_011522360.1:c.1448A>G (CCDC78) XP_011520662.1:p.Glu483Gly
XM_011522361.1:c.1493A>G (CCDC78) XP_011520663.1:p.Glu498Gly
XM_011522362.1:c.1493A>G (CCDC78) XP_011520664.1:p.Glu498Gly
XM_011522363.1:c.1493A>G (CCDC78) XP_011520665.1:p.Glu498Gly
XM_011522364.1:c.1493A>G (CCDC78) XP_011520666.1:p.Glu498Gly
XM_011522365.1:c.1280A>G (CCDC78) XP_011520667.1:p.Glu427Gly
XM_011522366.1:c.1271A>G (CCDC78) XP_011520668.1:p.Glu424Gly
XM_011522367.1:c.1112A>G (CCDC78) XP_011520669.1:p.Glu371Gly
XM_011522368.1:c.1100A>G (CCDC78) XP_011520670.1:p.Glu367Gly
XM_011522369.1:c.1058A>G (CCDC78) XP_011520671.1:p.Glu353Gly
XM_011522370.1:c.890A>G (CCDC78) XP_011520672.1:p.Glu297Gly
XM_011522371.1:c.605A>G (CCDC78) XP_011520673.1:p.Glu202Gly
XM_006720843.4:c.1046A>G (CCDC78) XP_006720906.1:p.Glu349Gly
XM_011522358.2:c.1493A>G (CCDC78) XP_011520660.1:p.Glu498Gly
XM_011522371.2:c.605A>G (CCDC78) XP_011520673.1:p.Glu202Gly
XM_017022929.1:c.1493A>G (CCDC78) XP_016878418.1:p.Glu498Gly
XM_017022930.1:c.593A>G (CCDC78) XP_016878419.1:p.Glu198Gly
XM_024450150.1:c.323A>G (CCDC78) XP_024305918.1:p.Glu108Gly
XR_001751835.1:n.1832A>G (CCDC78)
XR_001751836.1:n.1811A>G (CCDC78)
XR_001751837.1:n.1589A>G (CCDC78)
XR_001751838.1:n.1935A>G (CCDC78)
XR_001751839.1:n.1397A>G (CCDC78)
NM_001031737.3:c.1046A>G (CCDC78) NP_001026907.2:p.Glu349Gly
NM_001378030.1:c.1046A>G (CCDC78) MANE Select NP_001364959.1:p.Glu349Gly
NM_001378031.1:c.953+209A>G (CCDC78) NP_001364960.1:n.953+209A>G
NM_001378033.1:c.479A>G (CCDC78) NP_001364962.1:p.Glu160Gly
NR_165382.1:n.1603A>G (CCDC78)
NR_165383.1:n.1249A>G (CCDC78)
NR_165384.1:n.1214A>G (CCDC78)
NR_165385.1:n.1314A>G (CCDC78)
NR_165386.1:n.1381A>G (CCDC78)