Canonical Allele Identifier: CA394098778

Linked Data

gnomAD v4: 16-724123-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724123T>A , CM000678.2:g.724123T>A GRCh38
NC_000016.9:g.774123T>A , CM000678.1:g.774123T>A GRCh37
NC_000016.8:g.714124T>A NCBI36
NG_032932.1:g.7351A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1579A>T (CCDC78)
ENST00000345165.10:c.1036A>T (CCDC78) MANE Select ENSP00000316851.5:p.Ser346Cys
ENST00000293889.10:c.1036A>T (CCDC78) ENSP00000293889.6:p.Ser346Cys
ENST00000345165.8:c.582A>T (CCDC78)
ENST00000463539.5:n.1358A>T (CCDC78)
ENST00000466708.5:n.1380A>T (CCDC78)
ENST00000478979.5:n.1514A>T (CCDC78)
ENST00000481804.5:n.2014A>T (CCDC78)
ENST00000482152.1:n.397A>T (CCDC78)
ENST00000482878.5:n.1917A>T (CCDC78)
ENST00000485091.5:n.1189A>T (CCDC78)
ENST00000620831.4:c.-49-38509T>A (MSLN) ENSP00000482893.1:n.-49-38509T>A
NM_001031737.2:c.1036A>T (CCDC78) NP_001026907.2:p.Ser346Cys
XM_006720838.1:c.1258A>T (CCDC78) XP_006720901.1:p.Ser420Cys
XM_006720843.2:c.1036A>T (CCDC78) XP_006720906.1:p.Ser346Cys
XM_011522356.1:c.1483A>T (CCDC78) XP_011520658.1:p.Ser495Cys
XM_011522357.1:c.1471A>T (CCDC78) XP_011520659.1:p.Ser491Cys
XM_011522358.1:c.1483A>T (CCDC78) XP_011520660.1:p.Ser495Cys
XM_011522359.1:c.1450A>T (CCDC78) XP_011520661.1:p.Ser484Cys
XM_011522360.1:c.1438A>T (CCDC78) XP_011520662.1:p.Ser480Cys
XM_011522361.1:c.1483A>T (CCDC78) XP_011520663.1:p.Ser495Cys
XM_011522362.1:c.1483A>T (CCDC78) XP_011520664.1:p.Ser495Cys
XM_011522363.1:c.1483A>T (CCDC78) XP_011520665.1:p.Ser495Cys
XM_011522364.1:c.1483A>T (CCDC78) XP_011520666.1:p.Ser495Cys
XM_011522365.1:c.1270A>T (CCDC78) XP_011520667.1:p.Ser424Cys
XM_011522366.1:c.1261A>T (CCDC78) XP_011520668.1:p.Ser421Cys
XM_011522367.1:c.1102A>T (CCDC78) XP_011520669.1:p.Ser368Cys
XM_011522368.1:c.1090A>T (CCDC78) XP_011520670.1:p.Ser364Cys
XM_011522369.1:c.1048A>T (CCDC78) XP_011520671.1:p.Ser350Cys
XM_011522370.1:c.880A>T (CCDC78) XP_011520672.1:p.Ser294Cys
XM_011522371.1:c.595A>T (CCDC78) XP_011520673.1:p.Ser199Cys
XM_006720843.4:c.1036A>T (CCDC78) XP_006720906.1:p.Ser346Cys
XM_011522358.2:c.1483A>T (CCDC78) XP_011520660.1:p.Ser495Cys
XM_011522371.2:c.595A>T (CCDC78) XP_011520673.1:p.Ser199Cys
XM_017022929.1:c.1483A>T (CCDC78) XP_016878418.1:p.Ser495Cys
XM_017022930.1:c.583A>T (CCDC78) XP_016878419.1:p.Ser195Cys
XM_024450150.1:c.313A>T (CCDC78) XP_024305918.1:p.Ser105Cys
XR_001751835.1:n.1822A>T (CCDC78)
XR_001751836.1:n.1801A>T (CCDC78)
XR_001751837.1:n.1579A>T (CCDC78)
XR_001751838.1:n.1925A>T (CCDC78)
XR_001751839.1:n.1387A>T (CCDC78)
NM_001031737.3:c.1036A>T (CCDC78) NP_001026907.2:p.Ser346Cys
NM_001378030.1:c.1036A>T (CCDC78) MANE Select NP_001364959.1:p.Ser346Cys
NM_001378031.1:c.953+199A>T (CCDC78) NP_001364960.1:n.953+199A>T
NM_001378033.1:c.469A>T (CCDC78) NP_001364962.1:p.Ser157Cys
NR_165382.1:n.1593A>T (CCDC78)
NR_165383.1:n.1239A>T (CCDC78)
NR_165384.1:n.1204A>T (CCDC78)
NR_165385.1:n.1304A>T (CCDC78)
NR_165386.1:n.1371A>T (CCDC78)