Canonical Allele Identifier: CA276519826
Community Standard Title: NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724382C>G , CM000678.2:g.724382C>G GRCh38
NC_000016.9:g.774382C>G , CM000678.1:g.774382C>G GRCh37
NC_000016.8:g.714383C>G NCBI36
NG_032932.1:g.7092G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378030.1:c.893G>C (CCDC78) MANE Select NP_001364959.1:p.Ser298Thr
ENST00000345165.10:c.893G>C (CCDC78) MANE Select ENSP00000316851.5:p.Ser298Thr
NM_001031737.2:c.893G>C (CCDC78) NP_001026907.2:p.Ser298Thr
NM_001031737.3:c.893G>C (CCDC78) NP_001026907.2:p.Ser298Thr
NM_001378031.1:c.893G>C (CCDC78) NP_001364960.1:p.Ser298Thr
NM_001378033.1:c.326G>C (CCDC78) NP_001364962.1:p.Ser109Thr
NR_165382.1:n.1450G>C (CCDC78)
NR_165383.1:n.1096G>C (CCDC78)
NR_165384.1:n.1061G>C (CCDC78)
NR_165385.1:n.1161G>C (CCDC78)
NR_165386.1:n.1228G>C (CCDC78)
ENST00000293889.10:c.893G>C (CCDC78) ENSP00000293889.6:p.Ser298Thr
ENST00000345165.8:c.439G>C (CCDC78)
ENST00000463539.5:n.1215G>C (CCDC78)
ENST00000466708.5:n.1237G>C (CCDC78)
ENST00000478979.5:n.1255G>C (CCDC78)
ENST00000481804.5:n.1755G>C (CCDC78)
ENST00000482152.1:n.254G>C (CCDC78)
ENST00000482878.5:n.1658G>C (CCDC78)
ENST00000485091.5:n.1046G>C (CCDC78)
ENST00000620831.4:c.-49-38250C>G (MSLN) ENSP00000482893.1:n.-49-38250C>G
ENST00000682391.1:n.1436G>C (CCDC78)
XM_006720838.1:c.1115G>C (CCDC78) XP_006720901.1:p.Ser372Thr
XM_006720843.2:c.893G>C (CCDC78) XP_006720906.1:p.Ser298Thr
XM_006720843.4:c.893G>C (CCDC78) XP_006720906.1:p.Ser298Thr
XM_011522356.1:c.1340G>C (CCDC78) XP_011520658.1:p.Ser447Thr
XM_011522357.1:c.1328G>C (CCDC78) XP_011520659.1:p.Ser443Thr
XM_011522358.1:c.1340G>C (CCDC78) XP_011520660.1:p.Ser447Thr
XM_011522358.2:c.1340G>C (CCDC78) XP_011520660.1:p.Ser447Thr
XM_011522359.1:c.1307G>C (CCDC78) XP_011520661.1:p.Ser436Thr
XM_011522360.1:c.1295G>C (CCDC78) XP_011520662.1:p.Ser432Thr
XM_011522361.1:c.1340G>C (CCDC78) XP_011520663.1:p.Ser447Thr
XM_011522362.1:c.1340G>C (CCDC78) XP_011520664.1:p.Ser447Thr
XM_011522363.1:c.1340G>C (CCDC78) XP_011520665.1:p.Ser447Thr
XM_011522364.1:c.1340G>C (CCDC78) XP_011520666.1:p.Ser447Thr
XM_011522365.1:c.1127G>C (CCDC78) XP_011520667.1:p.Ser376Thr
XM_011522366.1:c.1118G>C (CCDC78) XP_011520668.1:p.Ser373Thr
XM_011522367.1:c.959G>C (CCDC78) XP_011520669.1:p.Ser320Thr
XM_011522368.1:c.947G>C (CCDC78) XP_011520670.1:p.Ser316Thr
XM_011522369.1:c.905G>C (CCDC78) XP_011520671.1:p.Ser302Thr
XM_011522370.1:c.737G>C (CCDC78) XP_011520672.1:p.Ser246Thr
XM_011522371.1:c.452G>C (CCDC78) XP_011520673.1:p.Ser151Thr
XM_011522371.2:c.452G>C (CCDC78) XP_011520673.1:p.Ser151Thr
XM_017022929.1:c.1340G>C (CCDC78) XP_016878418.1:p.Ser447Thr
XM_017022930.1:c.440G>C (CCDC78) XP_016878419.1:p.Ser147Thr
XM_024450150.1:c.170G>C (CCDC78) XP_024305918.1:p.Ser57Thr
XR_001751835.1:n.1679G>C (CCDC78)
XR_001751836.1:n.1658G>C (CCDC78)
XR_001751837.1:n.1436G>C (CCDC78)
XR_001751838.1:n.1782G>C (CCDC78)
XR_001751839.1:n.1244G>C (CCDC78)