Canonical Allele Identifier: CA7789504
Community Standard Title: NM_001378030.1(CCDC78):c.592C>G (p.Arg198Gly)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724958G>C , CM000678.2:g.724958G>C GRCh38
NC_000016.9:g.774958G>C , CM000678.1:g.774958G>C GRCh37
NC_000016.8:g.714959G>C NCBI36
NG_032932.1:g.6516C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001378030.1:c.592C>G (CCDC78) MANE Select NP_001364959.1:p.Arg198Gly
ENST00000345165.10:c.592C>G (CCDC78) MANE Select ENSP00000316851.5:p.Arg198Gly
NM_001031737.2:c.592C>G (CCDC78) NP_001026907.2:p.Arg198Gly
NM_001031737.3:c.592C>G (CCDC78) NP_001026907.2:p.Arg198Gly
NM_001378031.1:c.592C>G (CCDC78) NP_001364960.1:p.Arg198Gly
NM_001378033.1:c.198+120C>G (CCDC78) NP_001364962.1:n.198+120C>G
NR_165382.1:n.978C>G (CCDC78)
NR_165383.1:n.624C>G (CCDC78)
NR_165384.1:n.589C>G (CCDC78)
NR_165385.1:n.756C>G (CCDC78)
NR_165386.1:n.756C>G (CCDC78)
ENST00000293889.10:c.592C>G (CCDC78) ENSP00000293889.6:p.Arg198Gly
ENST00000345165.8:c.138C>G (CCDC78)
ENST00000423653.5:c.139C>G (CCDC78) ENSP00000458590.1:p.Arg47Gly
ENST00000423653.6:n.637C>G (CCDC78)
ENST00000439619.6:n.760C>G (CCDC78)
ENST00000460023.5:n.738C>G (CCDC78)
ENST00000463539.5:n.743C>G (CCDC78)
ENST00000466708.5:n.765C>G (CCDC78)
ENST00000478979.5:n.679C>G (CCDC78)
ENST00000481804.5:n.1179C>G (CCDC78)
ENST00000482878.5:n.1082C>G (CCDC78)
ENST00000485091.5:n.745C>G (CCDC78)
ENST00000538176.5:n.750C>G (CCDC78)
ENST00000620831.4:c.-49-37674G>C (MSLN) ENSP00000482893.1:n.-49-37674G>C
ENST00000682391.1:n.860C>G (CCDC78)
XM_005255106.3:c.738C>G (CCDC78) XP_005255163.1:p.Pro246=
XM_006720838.1:c.814C>G (CCDC78) XP_006720901.1:p.Arg272Gly
XM_006720843.2:c.592C>G (CCDC78) XP_006720906.1:p.Arg198Gly
XM_006720843.4:c.592C>G (CCDC78) XP_006720906.1:p.Arg198Gly
XM_011522356.1:c.1086+120C>G (CCDC78) XP_011520658.1:n.1086+120C>G
XM_011522357.1:c.1027C>G (CCDC78) XP_011520659.1:p.Arg343Gly
XM_011522358.1:c.1086+120C>G (CCDC78) XP_011520660.1:n.1086+120C>G
XM_011522358.2:c.1086+120C>G (CCDC78) XP_011520660.1:n.1086+120C>G
XM_011522359.1:c.1053+120C>G (CCDC78) XP_011520661.1:n.1053+120C>G
XM_011522360.1:c.994C>G (CCDC78) XP_011520662.1:p.Arg332Gly
XM_011522361.1:c.1086+120C>G (CCDC78) XP_011520663.1:n.1086+120C>G
XM_011522362.1:c.1086+120C>G (CCDC78) XP_011520664.1:n.1086+120C>G
XM_011522363.1:c.1086+120C>G (CCDC78) XP_011520665.1:n.1086+120C>G
XM_011522364.1:c.1086+120C>G (CCDC78) XP_011520666.1:n.1086+120C>G
XM_011522365.1:c.873+120C>G (CCDC78) XP_011520667.1:n.873+120C>G
XM_011522366.1:c.864+120C>G (CCDC78) XP_011520668.1:n.864+120C>G
XM_011522367.1:c.705+120C>G (CCDC78) XP_011520669.1:n.705+120C>G
XM_011522368.1:c.646C>G (CCDC78) XP_011520670.1:p.Arg216Gly
XM_011522369.1:c.651+120C>G (CCDC78) XP_011520671.1:n.651+120C>G
XM_011522370.1:c.483+120C>G (CCDC78) XP_011520672.1:n.483+120C>G
XM_011522371.1:c.198+120C>G (CCDC78) XP_011520673.1:n.198+120C>G
XM_011522371.2:c.198+120C>G (CCDC78) XP_011520673.1:n.198+120C>G
XM_017022929.1:c.1086+120C>G (CCDC78) XP_016878418.1:n.1086+120C>G
XM_017022930.1:c.139C>G (CCDC78) XP_016878419.1:p.Arg47Gly
XR_001751835.1:n.1207C>G (CCDC78)
XR_001751836.1:n.1082C>G (CCDC78)
XR_001751837.1:n.860C>G (CCDC78)
XR_001751838.1:n.1206C>G (CCDC78)
XR_001751839.1:n.772C>G (CCDC78)