Canonical Allele Identifier: CA394098336

Linked Data

dbSNP Id: rs2040531407
gnomAD v4: 16-723869-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723869G>A , CM000678.2:g.723869G>A GRCh38
NC_000016.9:g.773869G>A , CM000678.1:g.773869G>A GRCh37
NC_000016.8:g.713870G>A NCBI36
NG_032932.1:g.7605C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1664C>T (CCDC78)
ENST00000345165.10:c.1121C>T (CCDC78) MANE Select ENSP00000316851.5:p.Thr374Ile
ENST00000293889.10:c.1121C>T (CCDC78) ENSP00000293889.6:p.Thr374Ile
ENST00000345165.8:c.667C>T (CCDC78)
ENST00000463539.5:n.1443C>T (CCDC78)
ENST00000466708.5:n.1465C>T (CCDC78)
ENST00000478979.5:n.1768C>T (CCDC78)
ENST00000481804.5:n.2099C>T (CCDC78)
ENST00000482152.1:n.482C>T (CCDC78)
ENST00000482878.5:n.2171C>T (CCDC78)
ENST00000485091.5:n.1274C>T (CCDC78)
ENST00000620831.4:c.-49-38763G>A (MSLN) ENSP00000482893.1:n.-49-38763G>A
NM_001031737.2:c.1121C>T (CCDC78) NP_001026907.2:p.Thr374Ile
XM_006720838.1:c.1343C>T (CCDC78) XP_006720901.1:p.Thr448Ile
XM_006720843.2:c.1121C>T (CCDC78) XP_006720906.1:p.Thr374Ile
XM_011522356.1:c.1568C>T (CCDC78) XP_011520658.1:p.Thr523Ile
XM_011522357.1:c.1556C>T (CCDC78) XP_011520659.1:p.Thr519Ile
XM_011522358.1:c.1568C>T (CCDC78) XP_011520660.1:p.Thr523Ile
XM_011522359.1:c.1535C>T (CCDC78) XP_011520661.1:p.Thr512Ile
XM_011522360.1:c.1523C>T (CCDC78) XP_011520662.1:p.Thr508Ile
XM_011522361.1:c.1568C>T (CCDC78) XP_011520663.1:p.Thr523Ile
XM_011522362.1:c.1568C>T (CCDC78) XP_011520664.1:p.Thr523Ile
XM_011522363.1:c.1568C>T (CCDC78) XP_011520665.1:p.Thr523Ile
XM_011522364.1:c.1568C>T (CCDC78) XP_011520666.1:p.Thr523Ile
XM_011522365.1:c.1355C>T (CCDC78) XP_011520667.1:p.Thr452Ile
XM_011522366.1:c.1346C>T (CCDC78) XP_011520668.1:p.Thr449Ile
XM_011522367.1:c.1187C>T (CCDC78) XP_011520669.1:p.Thr396Ile
XM_011522368.1:c.1175C>T (CCDC78) XP_011520670.1:p.Thr392Ile
XM_011522369.1:c.1133C>T (CCDC78) XP_011520671.1:p.Thr378Ile
XM_011522370.1:c.965C>T (CCDC78) XP_011520672.1:p.Thr322Ile
XM_011522371.1:c.680C>T (CCDC78) XP_011520673.1:p.Thr227Ile
XM_006720843.4:c.1121C>T (CCDC78) XP_006720906.1:p.Thr374Ile
XM_011522358.2:c.1568C>T (CCDC78) XP_011520660.1:p.Thr523Ile
XM_011522371.2:c.680C>T (CCDC78) XP_011520673.1:p.Thr227Ile
XM_017022929.1:c.1568C>T (CCDC78) XP_016878418.1:p.Thr523Ile
XM_017022930.1:c.668C>T (CCDC78) XP_016878419.1:p.Thr223Ile
XM_017022931.1:c.-133C>T (CCDC78) XP_016878420.1:n.-133C>T
XM_024450150.1:c.398C>T (CCDC78) XP_024305918.1:p.Thr133Ile
XR_001751835.1:n.1907C>T (CCDC78)
XR_001751836.1:n.1886C>T (CCDC78)
XR_001751837.1:n.1664C>T (CCDC78)
XR_001751838.1:n.2010C>T (CCDC78)
XR_001751839.1:n.1472C>T (CCDC78)
NM_001031737.3:c.1121C>T (CCDC78) NP_001026907.2:p.Thr374Ile
NM_001378030.1:c.1121C>T (CCDC78) MANE Select NP_001364959.1:p.Thr374Ile
NM_001378031.1:c.953+453C>T (CCDC78) NP_001364960.1:n.953+453C>T
NM_001378033.1:c.554C>T (CCDC78) NP_001364962.1:p.Thr185Ile
NR_165382.1:n.1678C>T (CCDC78)
NR_165383.1:n.1324C>T (CCDC78)
NR_165384.1:n.1289C>T (CCDC78)
NR_165385.1:n.1389C>T (CCDC78)
NR_165386.1:n.1456C>T (CCDC78)