Canonical Allele Identifier: CA394098385

Linked Data

gnomAD v4: 16-723891-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723891C>A , CM000678.2:g.723891C>A GRCh38
NC_000016.9:g.773891C>A , CM000678.1:g.773891C>A GRCh37
NC_000016.8:g.713892C>A NCBI36
NG_032932.1:g.7583G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1642G>T (CCDC78)
ENST00000345165.10:c.1099G>T (CCDC78) MANE Select ENSP00000316851.5:p.Gly367Cys
ENST00000293889.10:c.1099G>T (CCDC78) ENSP00000293889.6:p.Gly367Cys
ENST00000345165.8:c.645G>T (CCDC78)
ENST00000463539.5:n.1421G>T (CCDC78)
ENST00000466708.5:n.1443G>T (CCDC78)
ENST00000478979.5:n.1746G>T (CCDC78)
ENST00000481804.5:n.2077G>T (CCDC78)
ENST00000482152.1:n.460G>T (CCDC78)
ENST00000482878.5:n.2149G>T (CCDC78)
ENST00000485091.5:n.1252G>T (CCDC78)
ENST00000620831.4:c.-49-38741C>A (MSLN) ENSP00000482893.1:n.-49-38741C>A
NM_001031737.2:c.1099G>T (CCDC78) NP_001026907.2:p.Gly367Cys
XM_006720838.1:c.1321G>T (CCDC78) XP_006720901.1:p.Gly441Cys
XM_006720843.2:c.1099G>T (CCDC78) XP_006720906.1:p.Gly367Cys
XM_011522356.1:c.1546G>T (CCDC78) XP_011520658.1:p.Gly516Cys
XM_011522357.1:c.1534G>T (CCDC78) XP_011520659.1:p.Gly512Cys
XM_011522358.1:c.1546G>T (CCDC78) XP_011520660.1:p.Gly516Cys
XM_011522359.1:c.1513G>T (CCDC78) XP_011520661.1:p.Gly505Cys
XM_011522360.1:c.1501G>T (CCDC78) XP_011520662.1:p.Gly501Cys
XM_011522361.1:c.1546G>T (CCDC78) XP_011520663.1:p.Gly516Cys
XM_011522362.1:c.1546G>T (CCDC78) XP_011520664.1:p.Gly516Cys
XM_011522363.1:c.1546G>T (CCDC78) XP_011520665.1:p.Gly516Cys
XM_011522364.1:c.1546G>T (CCDC78) XP_011520666.1:p.Gly516Cys
XM_011522365.1:c.1333G>T (CCDC78) XP_011520667.1:p.Gly445Cys
XM_011522366.1:c.1324G>T (CCDC78) XP_011520668.1:p.Gly442Cys
XM_011522367.1:c.1165G>T (CCDC78) XP_011520669.1:p.Gly389Cys
XM_011522368.1:c.1153G>T (CCDC78) XP_011520670.1:p.Gly385Cys
XM_011522369.1:c.1111G>T (CCDC78) XP_011520671.1:p.Gly371Cys
XM_011522370.1:c.943G>T (CCDC78) XP_011520672.1:p.Gly315Cys
XM_011522371.1:c.658G>T (CCDC78) XP_011520673.1:p.Gly220Cys
XM_006720843.4:c.1099G>T (CCDC78) XP_006720906.1:p.Gly367Cys
XM_011522358.2:c.1546G>T (CCDC78) XP_011520660.1:p.Gly516Cys
XM_011522371.2:c.658G>T (CCDC78) XP_011520673.1:p.Gly220Cys
XM_017022929.1:c.1546G>T (CCDC78) XP_016878418.1:p.Gly516Cys
XM_017022930.1:c.646G>T (CCDC78) XP_016878419.1:p.Gly216Cys
XM_017022931.1:c.-155G>T (CCDC78) XP_016878420.1:n.-155G>T
XM_024450150.1:c.376G>T (CCDC78) XP_024305918.1:p.Gly126Cys
XR_001751835.1:n.1885G>T (CCDC78)
XR_001751836.1:n.1864G>T (CCDC78)
XR_001751837.1:n.1642G>T (CCDC78)
XR_001751838.1:n.1988G>T (CCDC78)
XR_001751839.1:n.1450G>T (CCDC78)
NM_001031737.3:c.1099G>T (CCDC78) NP_001026907.2:p.Gly367Cys
NM_001378030.1:c.1099G>T (CCDC78) MANE Select NP_001364959.1:p.Gly367Cys
NM_001378031.1:c.953+431G>T (CCDC78) NP_001364960.1:n.953+431G>T
NM_001378033.1:c.532G>T (CCDC78) NP_001364962.1:p.Gly178Cys
NR_165382.1:n.1656G>T (CCDC78)
NR_165383.1:n.1302G>T (CCDC78)
NR_165384.1:n.1267G>T (CCDC78)
NR_165385.1:n.1367G>T (CCDC78)
NR_165386.1:n.1434G>T (CCDC78)