Canonical Allele Identifier: CA394098374

Linked Data

gnomAD v4: 16-723884-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723884G>T , CM000678.2:g.723884G>T GRCh38
NC_000016.9:g.773884G>T , CM000678.1:g.773884G>T GRCh37
NC_000016.8:g.713885G>T NCBI36
NG_032932.1:g.7590C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1649C>A (CCDC78)
ENST00000345165.10:c.1106C>A (CCDC78) MANE Select ENSP00000316851.5:p.Ala369Asp
ENST00000293889.10:c.1106C>A (CCDC78) ENSP00000293889.6:p.Ala369Asp
ENST00000345165.8:c.652C>A (CCDC78)
ENST00000463539.5:n.1428C>A (CCDC78)
ENST00000466708.5:n.1450C>A (CCDC78)
ENST00000478979.5:n.1753C>A (CCDC78)
ENST00000481804.5:n.2084C>A (CCDC78)
ENST00000482152.1:n.467C>A (CCDC78)
ENST00000482878.5:n.2156C>A (CCDC78)
ENST00000485091.5:n.1259C>A (CCDC78)
ENST00000620831.4:c.-49-38748G>T (MSLN) ENSP00000482893.1:n.-49-38748G>T
NM_001031737.2:c.1106C>A (CCDC78) NP_001026907.2:p.Ala369Asp
XM_006720838.1:c.1328C>A (CCDC78) XP_006720901.1:p.Ala443Asp
XM_006720843.2:c.1106C>A (CCDC78) XP_006720906.1:p.Ala369Asp
XM_011522356.1:c.1553C>A (CCDC78) XP_011520658.1:p.Ala518Asp
XM_011522357.1:c.1541C>A (CCDC78) XP_011520659.1:p.Ala514Asp
XM_011522358.1:c.1553C>A (CCDC78) XP_011520660.1:p.Ala518Asp
XM_011522359.1:c.1520C>A (CCDC78) XP_011520661.1:p.Ala507Asp
XM_011522360.1:c.1508C>A (CCDC78) XP_011520662.1:p.Ala503Asp
XM_011522361.1:c.1553C>A (CCDC78) XP_011520663.1:p.Ala518Asp
XM_011522362.1:c.1553C>A (CCDC78) XP_011520664.1:p.Ala518Asp
XM_011522363.1:c.1553C>A (CCDC78) XP_011520665.1:p.Ala518Asp
XM_011522364.1:c.1553C>A (CCDC78) XP_011520666.1:p.Ala518Asp
XM_011522365.1:c.1340C>A (CCDC78) XP_011520667.1:p.Ala447Asp
XM_011522366.1:c.1331C>A (CCDC78) XP_011520668.1:p.Ala444Asp
XM_011522367.1:c.1172C>A (CCDC78) XP_011520669.1:p.Ala391Asp
XM_011522368.1:c.1160C>A (CCDC78) XP_011520670.1:p.Ala387Asp
XM_011522369.1:c.1118C>A (CCDC78) XP_011520671.1:p.Ala373Asp
XM_011522370.1:c.950C>A (CCDC78) XP_011520672.1:p.Ala317Asp
XM_011522371.1:c.665C>A (CCDC78) XP_011520673.1:p.Ala222Asp
XM_006720843.4:c.1106C>A (CCDC78) XP_006720906.1:p.Ala369Asp
XM_011522358.2:c.1553C>A (CCDC78) XP_011520660.1:p.Ala518Asp
XM_011522371.2:c.665C>A (CCDC78) XP_011520673.1:p.Ala222Asp
XM_017022929.1:c.1553C>A (CCDC78) XP_016878418.1:p.Ala518Asp
XM_017022930.1:c.653C>A (CCDC78) XP_016878419.1:p.Ala218Asp
XM_017022931.1:c.-148C>A (CCDC78) XP_016878420.1:n.-148C>A
XM_024450150.1:c.383C>A (CCDC78) XP_024305918.1:p.Ala128Asp
XR_001751835.1:n.1892C>A (CCDC78)
XR_001751836.1:n.1871C>A (CCDC78)
XR_001751837.1:n.1649C>A (CCDC78)
XR_001751838.1:n.1995C>A (CCDC78)
XR_001751839.1:n.1457C>A (CCDC78)
NM_001031737.3:c.1106C>A (CCDC78) NP_001026907.2:p.Ala369Asp
NM_001378030.1:c.1106C>A (CCDC78) MANE Select NP_001364959.1:p.Ala369Asp
NM_001378031.1:c.953+438C>A (CCDC78) NP_001364960.1:n.953+438C>A
NM_001378033.1:c.539C>A (CCDC78) NP_001364962.1:p.Ala180Asp
NR_165382.1:n.1663C>A (CCDC78)
NR_165383.1:n.1309C>A (CCDC78)
NR_165384.1:n.1274C>A (CCDC78)
NR_165385.1:n.1374C>A (CCDC78)
NR_165386.1:n.1441C>A (CCDC78)