Canonical Allele Identifier: CA7789495
Community Standard Title: NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724930C>T , CM000678.2:g.724930C>T GRCh38
NC_000016.9:g.774930C>T , CM000678.1:g.774930C>T GRCh37
NC_000016.8:g.714931C>T NCBI36
NG_032932.1:g.6544G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001378030.1:c.620G>A (CCDC78) MANE Select NP_001364959.1:p.Arg207Gln
ENST00000345165.10:c.620G>A (CCDC78) MANE Select ENSP00000316851.5:p.Arg207Gln
NM_001031737.2:c.620G>A (CCDC78) NP_001026907.2:p.Arg207Gln
NM_001031737.3:c.620G>A (CCDC78) NP_001026907.2:p.Arg207Gln
NM_001378031.1:c.620G>A (CCDC78) NP_001364960.1:p.Arg207Gln
NM_001378033.1:c.198+148G>A (CCDC78) NP_001364962.1:n.198+148G>A
NR_165382.1:n.1006G>A (CCDC78)
NR_165383.1:n.652G>A (CCDC78)
NR_165384.1:n.617G>A (CCDC78)
NR_165385.1:n.784G>A (CCDC78)
NR_165386.1:n.784G>A (CCDC78)
ENST00000293889.10:c.620G>A (CCDC78) ENSP00000293889.6:p.Arg207Gln
ENST00000345165.8:c.166G>A (CCDC78)
ENST00000423653.5:c.167G>A (CCDC78) ENSP00000458590.1:p.Arg56Gln
ENST00000423653.6:n.665G>A (CCDC78)
ENST00000439619.6:n.788G>A (CCDC78)
ENST00000460023.5:n.766G>A (CCDC78)
ENST00000463539.5:n.771G>A (CCDC78)
ENST00000466708.5:n.793G>A (CCDC78)
ENST00000478979.5:n.707G>A (CCDC78)
ENST00000481804.5:n.1207G>A (CCDC78)
ENST00000482878.5:n.1110G>A (CCDC78)
ENST00000485091.5:n.773G>A (CCDC78)
ENST00000538176.5:n.778G>A (CCDC78)
ENST00000620831.4:c.-49-37702C>T (MSLN) ENSP00000482893.1:n.-49-37702C>T
ENST00000682391.1:n.888G>A (CCDC78)
XM_005255106.3:c.766G>A (CCDC78) XP_005255163.1:p.Asp256Asn
XM_006720838.1:c.842G>A (CCDC78) XP_006720901.1:p.Arg281Gln
XM_006720843.2:c.620G>A (CCDC78) XP_006720906.1:p.Arg207Gln
XM_006720843.4:c.620G>A (CCDC78) XP_006720906.1:p.Arg207Gln
XM_011522356.1:c.1087-124G>A (CCDC78) XP_011520658.1:n.1087-124G>A
XM_011522357.1:c.1055G>A (CCDC78) XP_011520659.1:p.Arg352Gln
XM_011522358.1:c.1087-124G>A (CCDC78) XP_011520660.1:n.1087-124G>A
XM_011522358.2:c.1087-124G>A (CCDC78) XP_011520660.1:n.1087-124G>A
XM_011522359.1:c.1054-124G>A (CCDC78) XP_011520661.1:n.1054-124G>A
XM_011522360.1:c.1022G>A (CCDC78) XP_011520662.1:p.Arg341Gln
XM_011522361.1:c.1087-124G>A (CCDC78) XP_011520663.1:n.1087-124G>A
XM_011522362.1:c.1087-124G>A (CCDC78) XP_011520664.1:n.1087-124G>A
XM_011522363.1:c.1087-124G>A (CCDC78) XP_011520665.1:n.1087-124G>A
XM_011522364.1:c.1087-124G>A (CCDC78) XP_011520666.1:n.1087-124G>A
XM_011522365.1:c.874-124G>A (CCDC78) XP_011520667.1:n.874-124G>A
XM_011522366.1:c.865-124G>A (CCDC78) XP_011520668.1:n.865-124G>A
XM_011522367.1:c.706-124G>A (CCDC78) XP_011520669.1:n.706-124G>A
XM_011522368.1:c.674G>A (CCDC78) XP_011520670.1:p.Arg225Gln
XM_011522369.1:c.652-124G>A (CCDC78) XP_011520671.1:n.652-124G>A
XM_011522370.1:c.484-124G>A (CCDC78) XP_011520672.1:n.484-124G>A
XM_011522371.1:c.199-124G>A (CCDC78) XP_011520673.1:n.199-124G>A
XM_011522371.2:c.199-124G>A (CCDC78) XP_011520673.1:n.199-124G>A
XM_017022929.1:c.1087-124G>A (CCDC78) XP_016878418.1:n.1087-124G>A
XM_017022930.1:c.167G>A (CCDC78) XP_016878419.1:p.Arg56Gln
XR_001751835.1:n.1235G>A (CCDC78)
XR_001751836.1:n.1110G>A (CCDC78)
XR_001751837.1:n.888G>A (CCDC78)
XR_001751838.1:n.1234G>A (CCDC78)
XR_001751839.1:n.800G>A (CCDC78)