Canonical Allele Identifier: CA394098382

Linked Data

gnomAD v4: 16-723890-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723890C>T , CM000678.2:g.723890C>T GRCh38
NC_000016.9:g.773890C>T , CM000678.1:g.773890C>T GRCh37
NC_000016.8:g.713891C>T NCBI36
NG_032932.1:g.7584G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1643G>A (CCDC78)
ENST00000345165.10:c.1100G>A (CCDC78) MANE Select ENSP00000316851.5:p.Gly367Asp
ENST00000293889.10:c.1100G>A (CCDC78) ENSP00000293889.6:p.Gly367Asp
ENST00000345165.8:c.646G>A (CCDC78)
ENST00000463539.5:n.1422G>A (CCDC78)
ENST00000466708.5:n.1444G>A (CCDC78)
ENST00000478979.5:n.1747G>A (CCDC78)
ENST00000481804.5:n.2078G>A (CCDC78)
ENST00000482152.1:n.461G>A (CCDC78)
ENST00000482878.5:n.2150G>A (CCDC78)
ENST00000485091.5:n.1253G>A (CCDC78)
ENST00000620831.4:c.-49-38742C>T (MSLN) ENSP00000482893.1:n.-49-38742C>T
NM_001031737.2:c.1100G>A (CCDC78) NP_001026907.2:p.Gly367Asp
XM_006720838.1:c.1322G>A (CCDC78) XP_006720901.1:p.Gly441Asp
XM_006720843.2:c.1100G>A (CCDC78) XP_006720906.1:p.Gly367Asp
XM_011522356.1:c.1547G>A (CCDC78) XP_011520658.1:p.Gly516Asp
XM_011522357.1:c.1535G>A (CCDC78) XP_011520659.1:p.Gly512Asp
XM_011522358.1:c.1547G>A (CCDC78) XP_011520660.1:p.Gly516Asp
XM_011522359.1:c.1514G>A (CCDC78) XP_011520661.1:p.Gly505Asp
XM_011522360.1:c.1502G>A (CCDC78) XP_011520662.1:p.Gly501Asp
XM_011522361.1:c.1547G>A (CCDC78) XP_011520663.1:p.Gly516Asp
XM_011522362.1:c.1547G>A (CCDC78) XP_011520664.1:p.Gly516Asp
XM_011522363.1:c.1547G>A (CCDC78) XP_011520665.1:p.Gly516Asp
XM_011522364.1:c.1547G>A (CCDC78) XP_011520666.1:p.Gly516Asp
XM_011522365.1:c.1334G>A (CCDC78) XP_011520667.1:p.Gly445Asp
XM_011522366.1:c.1325G>A (CCDC78) XP_011520668.1:p.Gly442Asp
XM_011522367.1:c.1166G>A (CCDC78) XP_011520669.1:p.Gly389Asp
XM_011522368.1:c.1154G>A (CCDC78) XP_011520670.1:p.Gly385Asp
XM_011522369.1:c.1112G>A (CCDC78) XP_011520671.1:p.Gly371Asp
XM_011522370.1:c.944G>A (CCDC78) XP_011520672.1:p.Gly315Asp
XM_011522371.1:c.659G>A (CCDC78) XP_011520673.1:p.Gly220Asp
XM_006720843.4:c.1100G>A (CCDC78) XP_006720906.1:p.Gly367Asp
XM_011522358.2:c.1547G>A (CCDC78) XP_011520660.1:p.Gly516Asp
XM_011522371.2:c.659G>A (CCDC78) XP_011520673.1:p.Gly220Asp
XM_017022929.1:c.1547G>A (CCDC78) XP_016878418.1:p.Gly516Asp
XM_017022930.1:c.647G>A (CCDC78) XP_016878419.1:p.Gly216Asp
XM_017022931.1:c.-154G>A (CCDC78) XP_016878420.1:n.-154G>A
XM_024450150.1:c.377G>A (CCDC78) XP_024305918.1:p.Gly126Asp
XR_001751835.1:n.1886G>A (CCDC78)
XR_001751836.1:n.1865G>A (CCDC78)
XR_001751837.1:n.1643G>A (CCDC78)
XR_001751838.1:n.1989G>A (CCDC78)
XR_001751839.1:n.1451G>A (CCDC78)
NM_001031737.3:c.1100G>A (CCDC78) NP_001026907.2:p.Gly367Asp
NM_001378030.1:c.1100G>A (CCDC78) MANE Select NP_001364959.1:p.Gly367Asp
NM_001378031.1:c.953+432G>A (CCDC78) NP_001364960.1:n.953+432G>A
NM_001378033.1:c.533G>A (CCDC78) NP_001364962.1:p.Gly178Asp
NR_165382.1:n.1657G>A (CCDC78)
NR_165383.1:n.1303G>A (CCDC78)
NR_165384.1:n.1268G>A (CCDC78)
NR_165385.1:n.1368G>A (CCDC78)
NR_165386.1:n.1435G>A (CCDC78)