Canonical Allele Identifier: CA7789458
Community Standard Title: NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724763T>G , CM000678.2:g.724763T>G GRCh38
NC_000016.9:g.774763T>G , CM000678.1:g.774763T>G GRCh37
NC_000016.8:g.714764T>G NCBI36
NG_032932.1:g.6711A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378030.1:c.683A>C (CCDC78) MANE Select NP_001364959.1:p.Glu228Ala
ENST00000345165.10:c.683A>C (CCDC78) MANE Select ENSP00000316851.5:p.Glu228Ala
NM_001031737.2:c.683A>C (CCDC78) NP_001026907.2:p.Glu228Ala
NM_001031737.3:c.683A>C (CCDC78) NP_001026907.2:p.Glu228Ala
NM_001378031.1:c.683A>C (CCDC78) NP_001364960.1:p.Glu228Ala
NM_001378033.1:c.199-254A>C (CCDC78) NP_001364962.1:n.199-254A>C
NR_165382.1:n.1069A>C (CCDC78)
NR_165383.1:n.715A>C (CCDC78)
NR_165384.1:n.680A>C (CCDC78)
NR_165385.1:n.951A>C (CCDC78)
NR_165386.1:n.847A>C (CCDC78)
ENST00000293889.10:c.683A>C (CCDC78) ENSP00000293889.6:p.Glu228Ala
ENST00000345165.8:c.229A>C (CCDC78)
ENST00000439619.6:n.851A>C (CCDC78)
ENST00000463539.5:n.834A>C (CCDC78)
ENST00000466708.5:n.856A>C (CCDC78)
ENST00000478979.5:n.874A>C (CCDC78)
ENST00000481804.5:n.1374A>C (CCDC78)
ENST00000482878.5:n.1277A>C (CCDC78)
ENST00000485091.5:n.836A>C (CCDC78)
ENST00000538176.5:n.945A>C (CCDC78)
ENST00000620831.4:c.-49-37869T>G (MSLN) ENSP00000482893.1:n.-49-37869T>G
ENST00000682391.1:n.1055A>C (CCDC78)
XM_005255106.3:c.*144A>C (CCDC78) XP_005255163.1:n.*144A>C
XM_006720838.1:c.905A>C (CCDC78) XP_006720901.1:p.Glu302Ala
XM_006720843.2:c.683A>C (CCDC78) XP_006720906.1:p.Glu228Ala
XM_006720843.4:c.683A>C (CCDC78) XP_006720906.1:p.Glu228Ala
XM_011522356.1:c.1130A>C (CCDC78) XP_011520658.1:p.Glu377Ala
XM_011522357.1:c.1118A>C (CCDC78) XP_011520659.1:p.Glu373Ala
XM_011522358.1:c.1130A>C (CCDC78) XP_011520660.1:p.Glu377Ala
XM_011522358.2:c.1130A>C (CCDC78) XP_011520660.1:p.Glu377Ala
XM_011522359.1:c.1097A>C (CCDC78) XP_011520661.1:p.Glu366Ala
XM_011522360.1:c.1085A>C (CCDC78) XP_011520662.1:p.Glu362Ala
XM_011522361.1:c.1130A>C (CCDC78) XP_011520663.1:p.Glu377Ala
XM_011522362.1:c.1130A>C (CCDC78) XP_011520664.1:p.Glu377Ala
XM_011522363.1:c.1130A>C (CCDC78) XP_011520665.1:p.Glu377Ala
XM_011522364.1:c.1130A>C (CCDC78) XP_011520666.1:p.Glu377Ala
XM_011522365.1:c.917A>C (CCDC78) XP_011520667.1:p.Glu306Ala
XM_011522366.1:c.908A>C (CCDC78) XP_011520668.1:p.Glu303Ala
XM_011522367.1:c.749A>C (CCDC78) XP_011520669.1:p.Glu250Ala
XM_011522368.1:c.737A>C (CCDC78) XP_011520670.1:p.Glu246Ala
XM_011522369.1:c.695A>C (CCDC78) XP_011520671.1:p.Glu232Ala
XM_011522370.1:c.527A>C (CCDC78) XP_011520672.1:p.Glu176Ala
XM_011522371.1:c.242A>C (CCDC78) XP_011520673.1:p.Glu81Ala
XM_011522371.2:c.242A>C (CCDC78) XP_011520673.1:p.Glu81Ala
XM_017022929.1:c.1130A>C (CCDC78) XP_016878418.1:p.Glu377Ala
XM_017022930.1:c.230A>C (CCDC78) XP_016878419.1:p.Glu77Ala
XM_024450150.1:c.-212A>C (CCDC78) XP_024305918.1:n.-212A>C
XR_001751835.1:n.1298A>C (CCDC78)
XR_001751836.1:n.1277A>C (CCDC78)
XR_001751837.1:n.1055A>C (CCDC78)
XR_001751838.1:n.1401A>C (CCDC78)
XR_001751839.1:n.863A>C (CCDC78)