Canonical Allele Identifier: CA394098815

Linked Data

gnomAD v4: 16-724128-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724128T>C , CM000678.2:g.724128T>C GRCh38
NC_000016.9:g.774128T>C , CM000678.1:g.774128T>C GRCh37
NC_000016.8:g.714129T>C NCBI36
NG_032932.1:g.7346A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1574A>G (CCDC78)
ENST00000345165.10:c.1031A>G (CCDC78) MANE Select ENSP00000316851.5:p.Asp344Gly
ENST00000293889.10:c.1031A>G (CCDC78) ENSP00000293889.6:p.Asp344Gly
ENST00000345165.8:c.577A>G (CCDC78)
ENST00000463539.5:n.1353A>G (CCDC78)
ENST00000466708.5:n.1375A>G (CCDC78)
ENST00000478979.5:n.1509A>G (CCDC78)
ENST00000481804.5:n.2009A>G (CCDC78)
ENST00000482152.1:n.392A>G (CCDC78)
ENST00000482878.5:n.1912A>G (CCDC78)
ENST00000485091.5:n.1184A>G (CCDC78)
ENST00000620831.4:c.-49-38504T>C (MSLN) ENSP00000482893.1:n.-49-38504T>C
NM_001031737.2:c.1031A>G (CCDC78) NP_001026907.2:p.Asp344Gly
XM_006720838.1:c.1253A>G (CCDC78) XP_006720901.1:p.Asp418Gly
XM_006720843.2:c.1031A>G (CCDC78) XP_006720906.1:p.Asp344Gly
XM_011522356.1:c.1478A>G (CCDC78) XP_011520658.1:p.Asp493Gly
XM_011522357.1:c.1466A>G (CCDC78) XP_011520659.1:p.Asp489Gly
XM_011522358.1:c.1478A>G (CCDC78) XP_011520660.1:p.Asp493Gly
XM_011522359.1:c.1445A>G (CCDC78) XP_011520661.1:p.Asp482Gly
XM_011522360.1:c.1433A>G (CCDC78) XP_011520662.1:p.Asp478Gly
XM_011522361.1:c.1478A>G (CCDC78) XP_011520663.1:p.Asp493Gly
XM_011522362.1:c.1478A>G (CCDC78) XP_011520664.1:p.Asp493Gly
XM_011522363.1:c.1478A>G (CCDC78) XP_011520665.1:p.Asp493Gly
XM_011522364.1:c.1478A>G (CCDC78) XP_011520666.1:p.Asp493Gly
XM_011522365.1:c.1265A>G (CCDC78) XP_011520667.1:p.Asp422Gly
XM_011522366.1:c.1256A>G (CCDC78) XP_011520668.1:p.Asp419Gly
XM_011522367.1:c.1097A>G (CCDC78) XP_011520669.1:p.Asp366Gly
XM_011522368.1:c.1085A>G (CCDC78) XP_011520670.1:p.Asp362Gly
XM_011522369.1:c.1043A>G (CCDC78) XP_011520671.1:p.Asp348Gly
XM_011522370.1:c.875A>G (CCDC78) XP_011520672.1:p.Asp292Gly
XM_011522371.1:c.590A>G (CCDC78) XP_011520673.1:p.Asp197Gly
XM_006720843.4:c.1031A>G (CCDC78) XP_006720906.1:p.Asp344Gly
XM_011522358.2:c.1478A>G (CCDC78) XP_011520660.1:p.Asp493Gly
XM_011522371.2:c.590A>G (CCDC78) XP_011520673.1:p.Asp197Gly
XM_017022929.1:c.1478A>G (CCDC78) XP_016878418.1:p.Asp493Gly
XM_017022930.1:c.578A>G (CCDC78) XP_016878419.1:p.Asp193Gly
XM_024450150.1:c.308A>G (CCDC78) XP_024305918.1:p.Asp103Gly
XR_001751835.1:n.1817A>G (CCDC78)
XR_001751836.1:n.1796A>G (CCDC78)
XR_001751837.1:n.1574A>G (CCDC78)
XR_001751838.1:n.1920A>G (CCDC78)
XR_001751839.1:n.1382A>G (CCDC78)
NM_001031737.3:c.1031A>G (CCDC78) NP_001026907.2:p.Asp344Gly
NM_001378030.1:c.1031A>G (CCDC78) MANE Select NP_001364959.1:p.Asp344Gly
NM_001378031.1:c.953+194A>G (CCDC78) NP_001364960.1:n.953+194A>G
NM_001378033.1:c.464A>G (CCDC78) NP_001364962.1:p.Asp155Gly
NR_165382.1:n.1588A>G (CCDC78)
NR_165383.1:n.1234A>G (CCDC78)
NR_165384.1:n.1199A>G (CCDC78)
NR_165385.1:n.1299A>G (CCDC78)
NR_165386.1:n.1366A>G (CCDC78)