Canonical Allele Identifier: CA7789455
Community Standard Title: NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724754C>A , CM000678.2:g.724754C>A GRCh38
NC_000016.9:g.774754C>A , CM000678.1:g.774754C>A GRCh37
NC_000016.8:g.714755C>A NCBI36
NG_032932.1:g.6720G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378030.1:c.692G>T (CCDC78) MANE Select NP_001364959.1:p.Arg231Leu
ENST00000345165.10:c.692G>T (CCDC78) MANE Select ENSP00000316851.5:p.Arg231Leu
NM_001031737.2:c.692G>T (CCDC78) NP_001026907.2:p.Arg231Leu
NM_001031737.3:c.692G>T (CCDC78) NP_001026907.2:p.Arg231Leu
NM_001378031.1:c.692G>T (CCDC78) NP_001364960.1:p.Arg231Leu
NM_001378033.1:c.199-245G>T (CCDC78) NP_001364962.1:n.199-245G>T
NR_165382.1:n.1078G>T (CCDC78)
NR_165383.1:n.724G>T (CCDC78)
NR_165384.1:n.689G>T (CCDC78)
NR_165385.1:n.960G>T (CCDC78)
NR_165386.1:n.856G>T (CCDC78)
ENST00000293889.10:c.692G>T (CCDC78) ENSP00000293889.6:p.Arg231Leu
ENST00000345165.8:c.238G>T (CCDC78)
ENST00000439619.6:n.860G>T (CCDC78)
ENST00000463539.5:n.843G>T (CCDC78)
ENST00000466708.5:n.865G>T (CCDC78)
ENST00000478979.5:n.883G>T (CCDC78)
ENST00000481804.5:n.1383G>T (CCDC78)
ENST00000482878.5:n.1286G>T (CCDC78)
ENST00000485091.5:n.845G>T (CCDC78)
ENST00000538176.5:n.954G>T (CCDC78)
ENST00000620831.4:c.-49-37878C>A (MSLN) ENSP00000482893.1:n.-49-37878C>A
ENST00000682391.1:n.1064G>T (CCDC78)
XM_005255106.3:c.*153G>T (CCDC78) XP_005255163.1:n.*153G>T
XM_006720838.1:c.914G>T (CCDC78) XP_006720901.1:p.Arg305Leu
XM_006720843.2:c.692G>T (CCDC78) XP_006720906.1:p.Arg231Leu
XM_006720843.4:c.692G>T (CCDC78) XP_006720906.1:p.Arg231Leu
XM_011522356.1:c.1139G>T (CCDC78) XP_011520658.1:p.Arg380Leu
XM_011522357.1:c.1127G>T (CCDC78) XP_011520659.1:p.Arg376Leu
XM_011522358.1:c.1139G>T (CCDC78) XP_011520660.1:p.Arg380Leu
XM_011522358.2:c.1139G>T (CCDC78) XP_011520660.1:p.Arg380Leu
XM_011522359.1:c.1106G>T (CCDC78) XP_011520661.1:p.Arg369Leu
XM_011522360.1:c.1094G>T (CCDC78) XP_011520662.1:p.Arg365Leu
XM_011522361.1:c.1139G>T (CCDC78) XP_011520663.1:p.Arg380Leu
XM_011522362.1:c.1139G>T (CCDC78) XP_011520664.1:p.Arg380Leu
XM_011522363.1:c.1139G>T (CCDC78) XP_011520665.1:p.Arg380Leu
XM_011522364.1:c.1139G>T (CCDC78) XP_011520666.1:p.Arg380Leu
XM_011522365.1:c.926G>T (CCDC78) XP_011520667.1:p.Arg309Leu
XM_011522366.1:c.917G>T (CCDC78) XP_011520668.1:p.Arg306Leu
XM_011522367.1:c.758G>T (CCDC78) XP_011520669.1:p.Arg253Leu
XM_011522368.1:c.746G>T (CCDC78) XP_011520670.1:p.Arg249Leu
XM_011522369.1:c.704G>T (CCDC78) XP_011520671.1:p.Arg235Leu
XM_011522370.1:c.536G>T (CCDC78) XP_011520672.1:p.Arg179Leu
XM_011522371.1:c.251G>T (CCDC78) XP_011520673.1:p.Arg84Leu
XM_011522371.2:c.251G>T (CCDC78) XP_011520673.1:p.Arg84Leu
XM_017022929.1:c.1139G>T (CCDC78) XP_016878418.1:p.Arg380Leu
XM_017022930.1:c.239G>T (CCDC78) XP_016878419.1:p.Arg80Leu
XM_024450150.1:c.-203G>T (CCDC78) XP_024305918.1:n.-203G>T
XR_001751835.1:n.1307G>T (CCDC78)
XR_001751836.1:n.1286G>T (CCDC78)
XR_001751837.1:n.1064G>T (CCDC78)
XR_001751838.1:n.1410G>T (CCDC78)
XR_001751839.1:n.872G>T (CCDC78)