Canonical Allele Identifier: CA7789302

Linked Data

dbSNP Id: rs761094524
gnomAD v2: 16-774117-G-C
gnomAD v4: 16-724117-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724117G>C , CM000678.2:g.724117G>C GRCh38
NC_000016.9:g.774117G>C , CM000678.1:g.774117G>C GRCh37
NC_000016.8:g.714118G>C NCBI36
NG_032932.1:g.7357C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1585C>G (CCDC78)
ENST00000345165.10:c.1042C>G (CCDC78) MANE Select ENSP00000316851.5:p.Arg348Gly
ENST00000293889.10:c.1042C>G (CCDC78) ENSP00000293889.6:p.Arg348Gly
ENST00000345165.8:c.588C>G (CCDC78)
ENST00000463539.5:n.1364C>G (CCDC78)
ENST00000466708.5:n.1386C>G (CCDC78)
ENST00000478979.5:n.1520C>G (CCDC78)
ENST00000481804.5:n.2020C>G (CCDC78)
ENST00000482152.1:n.403C>G (CCDC78)
ENST00000482878.5:n.1923C>G (CCDC78)
ENST00000485091.5:n.1195C>G (CCDC78)
ENST00000620831.4:c.-49-38515G>C (MSLN) ENSP00000482893.1:n.-49-38515G>C
NM_001031737.2:c.1042C>G (CCDC78) NP_001026907.2:p.Arg348Gly
XM_006720838.1:c.1264C>G (CCDC78) XP_006720901.1:p.Arg422Gly
XM_006720843.2:c.1042C>G (CCDC78) XP_006720906.1:p.Arg348Gly
XM_011522356.1:c.1489C>G (CCDC78) XP_011520658.1:p.Arg497Gly
XM_011522357.1:c.1477C>G (CCDC78) XP_011520659.1:p.Arg493Gly
XM_011522358.1:c.1489C>G (CCDC78) XP_011520660.1:p.Arg497Gly
XM_011522359.1:c.1456C>G (CCDC78) XP_011520661.1:p.Arg486Gly
XM_011522360.1:c.1444C>G (CCDC78) XP_011520662.1:p.Arg482Gly
XM_011522361.1:c.1489C>G (CCDC78) XP_011520663.1:p.Arg497Gly
XM_011522362.1:c.1489C>G (CCDC78) XP_011520664.1:p.Arg497Gly
XM_011522363.1:c.1489C>G (CCDC78) XP_011520665.1:p.Arg497Gly
XM_011522364.1:c.1489C>G (CCDC78) XP_011520666.1:p.Arg497Gly
XM_011522365.1:c.1276C>G (CCDC78) XP_011520667.1:p.Arg426Gly
XM_011522366.1:c.1267C>G (CCDC78) XP_011520668.1:p.Arg423Gly
XM_011522367.1:c.1108C>G (CCDC78) XP_011520669.1:p.Arg370Gly
XM_011522368.1:c.1096C>G (CCDC78) XP_011520670.1:p.Arg366Gly
XM_011522369.1:c.1054C>G (CCDC78) XP_011520671.1:p.Arg352Gly
XM_011522370.1:c.886C>G (CCDC78) XP_011520672.1:p.Arg296Gly
XM_011522371.1:c.601C>G (CCDC78) XP_011520673.1:p.Arg201Gly
XM_006720843.4:c.1042C>G (CCDC78) XP_006720906.1:p.Arg348Gly
XM_011522358.2:c.1489C>G (CCDC78) XP_011520660.1:p.Arg497Gly
XM_011522371.2:c.601C>G (CCDC78) XP_011520673.1:p.Arg201Gly
XM_017022929.1:c.1489C>G (CCDC78) XP_016878418.1:p.Arg497Gly
XM_017022930.1:c.589C>G (CCDC78) XP_016878419.1:p.Arg197Gly
XM_024450150.1:c.319C>G (CCDC78) XP_024305918.1:p.Arg107Gly
XR_001751835.1:n.1828C>G (CCDC78)
XR_001751836.1:n.1807C>G (CCDC78)
XR_001751837.1:n.1585C>G (CCDC78)
XR_001751838.1:n.1931C>G (CCDC78)
XR_001751839.1:n.1393C>G (CCDC78)
NM_001031737.3:c.1042C>G (CCDC78) NP_001026907.2:p.Arg348Gly
NM_001378030.1:c.1042C>G (CCDC78) MANE Select NP_001364959.1:p.Arg348Gly
NM_001378031.1:c.953+205C>G (CCDC78) NP_001364960.1:n.953+205C>G
NM_001378033.1:c.475C>G (CCDC78) NP_001364962.1:p.Arg159Gly
NR_165382.1:n.1599C>G (CCDC78)
NR_165383.1:n.1245C>G (CCDC78)
NR_165384.1:n.1210C>G (CCDC78)
NR_165385.1:n.1310C>G (CCDC78)
NR_165386.1:n.1377C>G (CCDC78)