Canonical Allele Identifier: CA394098289

Linked Data

dbSNP Id: rs1388052680
gnomAD v2: 16-773858-G-A
gnomAD v4: 16-723858-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723858G>A , CM000678.2:g.723858G>A GRCh38
NC_000016.9:g.773858G>A , CM000678.1:g.773858G>A GRCh37
NC_000016.8:g.713859G>A NCBI36
NG_032932.1:g.7616C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1675C>T (CCDC78)
ENST00000345165.10:c.1132C>T (CCDC78) MANE Select ENSP00000316851.5:p.Gln378Ter
ENST00000293889.10:c.1132C>T (CCDC78) ENSP00000293889.6:p.Gln378Ter
ENST00000345165.8:c.678C>T (CCDC78)
ENST00000463539.5:n.1454C>T (CCDC78)
ENST00000466708.5:n.1476C>T (CCDC78)
ENST00000478979.5:n.1779C>T (CCDC78)
ENST00000481804.5:n.2110C>T (CCDC78)
ENST00000482152.1:n.493C>T (CCDC78)
ENST00000482878.5:n.2182C>T (CCDC78)
ENST00000485091.5:n.1285C>T (CCDC78)
ENST00000620831.4:c.-49-38774G>A (MSLN) ENSP00000482893.1:n.-49-38774G>A
NM_001031737.2:c.1132C>T (CCDC78) NP_001026907.2:p.Gln378Ter
XM_006720838.1:c.1354C>T (CCDC78) XP_006720901.1:p.Gln452Ter
XM_006720843.2:c.1132C>T (CCDC78) XP_006720906.1:p.Gln378Ter
XM_011522356.1:c.1579C>T (CCDC78) XP_011520658.1:p.Gln527Ter
XM_011522357.1:c.1567C>T (CCDC78) XP_011520659.1:p.Gln523Ter
XM_011522358.1:c.1579C>T (CCDC78) XP_011520660.1:p.Gln527Ter
XM_011522359.1:c.1546C>T (CCDC78) XP_011520661.1:p.Gln516Ter
XM_011522360.1:c.1534C>T (CCDC78) XP_011520662.1:p.Gln512Ter
XM_011522361.1:c.1579C>T (CCDC78) XP_011520663.1:p.Gln527Ter
XM_011522362.1:c.1579C>T (CCDC78) XP_011520664.1:p.Gln527Ter
XM_011522363.1:c.1579C>T (CCDC78) XP_011520665.1:p.Gln527Ter
XM_011522364.1:c.1579C>T (CCDC78) XP_011520666.1:p.Gln527Ter
XM_011522365.1:c.1366C>T (CCDC78) XP_011520667.1:p.Gln456Ter
XM_011522366.1:c.1357C>T (CCDC78) XP_011520668.1:p.Gln453Ter
XM_011522367.1:c.1198C>T (CCDC78) XP_011520669.1:p.Gln400Ter
XM_011522368.1:c.1186C>T (CCDC78) XP_011520670.1:p.Gln396Ter
XM_011522369.1:c.1144C>T (CCDC78) XP_011520671.1:p.Gln382Ter
XM_011522370.1:c.976C>T (CCDC78) XP_011520672.1:p.Gln326Ter
XM_011522371.1:c.691C>T (CCDC78) XP_011520673.1:p.Gln231Ter
XM_006720843.4:c.1132C>T (CCDC78) XP_006720906.1:p.Gln378Ter
XM_011522358.2:c.1579C>T (CCDC78) XP_011520660.1:p.Gln527Ter
XM_011522371.2:c.691C>T (CCDC78) XP_011520673.1:p.Gln231Ter
XM_017022929.1:c.1579C>T (CCDC78) XP_016878418.1:p.Gln527Ter
XM_017022930.1:c.679C>T (CCDC78) XP_016878419.1:p.Gln227Ter
XM_017022931.1:c.-122C>T (CCDC78) XP_016878420.1:n.-122C>T
XM_024450150.1:c.409C>T (CCDC78) XP_024305918.1:p.Gln137Ter
XR_001751835.1:n.1918C>T (CCDC78)
XR_001751836.1:n.1897C>T (CCDC78)
XR_001751837.1:n.1675C>T (CCDC78)
XR_001751838.1:n.2021C>T (CCDC78)
XR_001751839.1:n.1483C>T (CCDC78)
NM_001031737.3:c.1132C>T (CCDC78) NP_001026907.2:p.Gln378Ter
NM_001378030.1:c.1132C>T (CCDC78) MANE Select NP_001364959.1:p.Gln378Ter
NM_001378031.1:c.953+464C>T (CCDC78) NP_001364960.1:n.953+464C>T
NM_001378033.1:c.565C>T (CCDC78) NP_001364962.1:p.Gln189Ter
NR_165382.1:n.1689C>T (CCDC78)
NR_165383.1:n.1335C>T (CCDC78)
NR_165384.1:n.1300C>T (CCDC78)
NR_165385.1:n.1400C>T (CCDC78)
NR_165386.1:n.1467C>T (CCDC78)