Canonical Allele Identifier: CA394098817

Linked Data

dbSNP Id: rs2040581006
gnomAD v3: 16-724128-T-G
gnomAD v4: 16-724128-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724128T>G , CM000678.2:g.724128T>G GRCh38
NC_000016.9:g.774128T>G , CM000678.1:g.774128T>G GRCh37
NC_000016.8:g.714129T>G NCBI36
NG_032932.1:g.7346A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1574A>C (CCDC78)
ENST00000345165.10:c.1031A>C (CCDC78) MANE Select ENSP00000316851.5:p.Asp344Ala
ENST00000293889.10:c.1031A>C (CCDC78) ENSP00000293889.6:p.Asp344Ala
ENST00000345165.8:c.577A>C (CCDC78)
ENST00000463539.5:n.1353A>C (CCDC78)
ENST00000466708.5:n.1375A>C (CCDC78)
ENST00000478979.5:n.1509A>C (CCDC78)
ENST00000481804.5:n.2009A>C (CCDC78)
ENST00000482152.1:n.392A>C (CCDC78)
ENST00000482878.5:n.1912A>C (CCDC78)
ENST00000485091.5:n.1184A>C (CCDC78)
ENST00000620831.4:c.-49-38504T>G (MSLN) ENSP00000482893.1:n.-49-38504T>G
NM_001031737.2:c.1031A>C (CCDC78) NP_001026907.2:p.Asp344Ala
XM_006720838.1:c.1253A>C (CCDC78) XP_006720901.1:p.Asp418Ala
XM_006720843.2:c.1031A>C (CCDC78) XP_006720906.1:p.Asp344Ala
XM_011522356.1:c.1478A>C (CCDC78) XP_011520658.1:p.Asp493Ala
XM_011522357.1:c.1466A>C (CCDC78) XP_011520659.1:p.Asp489Ala
XM_011522358.1:c.1478A>C (CCDC78) XP_011520660.1:p.Asp493Ala
XM_011522359.1:c.1445A>C (CCDC78) XP_011520661.1:p.Asp482Ala
XM_011522360.1:c.1433A>C (CCDC78) XP_011520662.1:p.Asp478Ala
XM_011522361.1:c.1478A>C (CCDC78) XP_011520663.1:p.Asp493Ala
XM_011522362.1:c.1478A>C (CCDC78) XP_011520664.1:p.Asp493Ala
XM_011522363.1:c.1478A>C (CCDC78) XP_011520665.1:p.Asp493Ala
XM_011522364.1:c.1478A>C (CCDC78) XP_011520666.1:p.Asp493Ala
XM_011522365.1:c.1265A>C (CCDC78) XP_011520667.1:p.Asp422Ala
XM_011522366.1:c.1256A>C (CCDC78) XP_011520668.1:p.Asp419Ala
XM_011522367.1:c.1097A>C (CCDC78) XP_011520669.1:p.Asp366Ala
XM_011522368.1:c.1085A>C (CCDC78) XP_011520670.1:p.Asp362Ala
XM_011522369.1:c.1043A>C (CCDC78) XP_011520671.1:p.Asp348Ala
XM_011522370.1:c.875A>C (CCDC78) XP_011520672.1:p.Asp292Ala
XM_011522371.1:c.590A>C (CCDC78) XP_011520673.1:p.Asp197Ala
XM_006720843.4:c.1031A>C (CCDC78) XP_006720906.1:p.Asp344Ala
XM_011522358.2:c.1478A>C (CCDC78) XP_011520660.1:p.Asp493Ala
XM_011522371.2:c.590A>C (CCDC78) XP_011520673.1:p.Asp197Ala
XM_017022929.1:c.1478A>C (CCDC78) XP_016878418.1:p.Asp493Ala
XM_017022930.1:c.578A>C (CCDC78) XP_016878419.1:p.Asp193Ala
XM_024450150.1:c.308A>C (CCDC78) XP_024305918.1:p.Asp103Ala
XR_001751835.1:n.1817A>C (CCDC78)
XR_001751836.1:n.1796A>C (CCDC78)
XR_001751837.1:n.1574A>C (CCDC78)
XR_001751838.1:n.1920A>C (CCDC78)
XR_001751839.1:n.1382A>C (CCDC78)
NM_001031737.3:c.1031A>C (CCDC78) NP_001026907.2:p.Asp344Ala
NM_001378030.1:c.1031A>C (CCDC78) MANE Select NP_001364959.1:p.Asp344Ala
NM_001378031.1:c.953+194A>C (CCDC78) NP_001364960.1:n.953+194A>C
NM_001378033.1:c.464A>C (CCDC78) NP_001364962.1:p.Asp155Ala
NR_165382.1:n.1588A>C (CCDC78)
NR_165383.1:n.1234A>C (CCDC78)
NR_165384.1:n.1199A>C (CCDC78)
NR_165385.1:n.1299A>C (CCDC78)
NR_165386.1:n.1366A>C (CCDC78)