Canonical Allele Identifier: CA394098361

Linked Data

gnomAD v4: 16-723878-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723878T>C , CM000678.2:g.723878T>C GRCh38
NC_000016.9:g.773878T>C , CM000678.1:g.773878T>C GRCh37
NC_000016.8:g.713879T>C NCBI36
NG_032932.1:g.7596A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1655A>G (CCDC78)
ENST00000345165.10:c.1112A>G (CCDC78) MANE Select ENSP00000316851.5:p.Gln371Arg
ENST00000293889.10:c.1112A>G (CCDC78) ENSP00000293889.6:p.Gln371Arg
ENST00000345165.8:c.658A>G (CCDC78)
ENST00000463539.5:n.1434A>G (CCDC78)
ENST00000466708.5:n.1456A>G (CCDC78)
ENST00000478979.5:n.1759A>G (CCDC78)
ENST00000481804.5:n.2090A>G (CCDC78)
ENST00000482152.1:n.473A>G (CCDC78)
ENST00000482878.5:n.2162A>G (CCDC78)
ENST00000485091.5:n.1265A>G (CCDC78)
ENST00000620831.4:c.-49-38754T>C (MSLN) ENSP00000482893.1:n.-49-38754T>C
NM_001031737.2:c.1112A>G (CCDC78) NP_001026907.2:p.Gln371Arg
XM_006720838.1:c.1334A>G (CCDC78) XP_006720901.1:p.Gln445Arg
XM_006720843.2:c.1112A>G (CCDC78) XP_006720906.1:p.Gln371Arg
XM_011522356.1:c.1559A>G (CCDC78) XP_011520658.1:p.Gln520Arg
XM_011522357.1:c.1547A>G (CCDC78) XP_011520659.1:p.Gln516Arg
XM_011522358.1:c.1559A>G (CCDC78) XP_011520660.1:p.Gln520Arg
XM_011522359.1:c.1526A>G (CCDC78) XP_011520661.1:p.Gln509Arg
XM_011522360.1:c.1514A>G (CCDC78) XP_011520662.1:p.Gln505Arg
XM_011522361.1:c.1559A>G (CCDC78) XP_011520663.1:p.Gln520Arg
XM_011522362.1:c.1559A>G (CCDC78) XP_011520664.1:p.Gln520Arg
XM_011522363.1:c.1559A>G (CCDC78) XP_011520665.1:p.Gln520Arg
XM_011522364.1:c.1559A>G (CCDC78) XP_011520666.1:p.Gln520Arg
XM_011522365.1:c.1346A>G (CCDC78) XP_011520667.1:p.Gln449Arg
XM_011522366.1:c.1337A>G (CCDC78) XP_011520668.1:p.Gln446Arg
XM_011522367.1:c.1178A>G (CCDC78) XP_011520669.1:p.Gln393Arg
XM_011522368.1:c.1166A>G (CCDC78) XP_011520670.1:p.Gln389Arg
XM_011522369.1:c.1124A>G (CCDC78) XP_011520671.1:p.Gln375Arg
XM_011522370.1:c.956A>G (CCDC78) XP_011520672.1:p.Gln319Arg
XM_011522371.1:c.671A>G (CCDC78) XP_011520673.1:p.Gln224Arg
XM_006720843.4:c.1112A>G (CCDC78) XP_006720906.1:p.Gln371Arg
XM_011522358.2:c.1559A>G (CCDC78) XP_011520660.1:p.Gln520Arg
XM_011522371.2:c.671A>G (CCDC78) XP_011520673.1:p.Gln224Arg
XM_017022929.1:c.1559A>G (CCDC78) XP_016878418.1:p.Gln520Arg
XM_017022930.1:c.659A>G (CCDC78) XP_016878419.1:p.Gln220Arg
XM_017022931.1:c.-142A>G (CCDC78) XP_016878420.1:n.-142A>G
XM_024450150.1:c.389A>G (CCDC78) XP_024305918.1:p.Gln130Arg
XR_001751835.1:n.1898A>G (CCDC78)
XR_001751836.1:n.1877A>G (CCDC78)
XR_001751837.1:n.1655A>G (CCDC78)
XR_001751838.1:n.2001A>G (CCDC78)
XR_001751839.1:n.1463A>G (CCDC78)
NM_001031737.3:c.1112A>G (CCDC78) NP_001026907.2:p.Gln371Arg
NM_001378030.1:c.1112A>G (CCDC78) MANE Select NP_001364959.1:p.Gln371Arg
NM_001378031.1:c.953+444A>G (CCDC78) NP_001364960.1:n.953+444A>G
NM_001378033.1:c.545A>G (CCDC78) NP_001364962.1:p.Gln182Arg
NR_165382.1:n.1669A>G (CCDC78)
NR_165383.1:n.1315A>G (CCDC78)
NR_165384.1:n.1280A>G (CCDC78)
NR_165385.1:n.1380A>G (CCDC78)
NR_165386.1:n.1447A>G (CCDC78)