Canonical Allele Identifier: CA394098442

Linked Data

gnomAD v4: 16-723908-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723908G>T , CM000678.2:g.723908G>T GRCh38
NC_000016.9:g.773908G>T , CM000678.1:g.773908G>T GRCh37
NC_000016.8:g.713909G>T NCBI36
NG_032932.1:g.7566C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1625C>A (CCDC78)
ENST00000345165.10:c.1082C>A (CCDC78) MANE Select ENSP00000316851.5:p.Ser361Tyr
ENST00000293889.10:c.1082C>A (CCDC78) ENSP00000293889.6:p.Ser361Tyr
ENST00000345165.8:c.628C>A (CCDC78)
ENST00000463539.5:n.1404C>A (CCDC78)
ENST00000466708.5:n.1426C>A (CCDC78)
ENST00000478979.5:n.1729C>A (CCDC78)
ENST00000481804.5:n.2060C>A (CCDC78)
ENST00000482152.1:n.443C>A (CCDC78)
ENST00000482878.5:n.2132C>A (CCDC78)
ENST00000485091.5:n.1235C>A (CCDC78)
ENST00000620831.4:c.-49-38724G>T (MSLN) ENSP00000482893.1:n.-49-38724G>T
NM_001031737.2:c.1082C>A (CCDC78) NP_001026907.2:p.Ser361Tyr
XM_006720838.1:c.1304C>A (CCDC78) XP_006720901.1:p.Ser435Tyr
XM_006720843.2:c.1082C>A (CCDC78) XP_006720906.1:p.Ser361Tyr
XM_011522356.1:c.1529C>A (CCDC78) XP_011520658.1:p.Ser510Tyr
XM_011522357.1:c.1517C>A (CCDC78) XP_011520659.1:p.Ser506Tyr
XM_011522358.1:c.1529C>A (CCDC78) XP_011520660.1:p.Ser510Tyr
XM_011522359.1:c.1496C>A (CCDC78) XP_011520661.1:p.Ser499Tyr
XM_011522360.1:c.1484C>A (CCDC78) XP_011520662.1:p.Ser495Tyr
XM_011522361.1:c.1529C>A (CCDC78) XP_011520663.1:p.Ser510Tyr
XM_011522362.1:c.1529C>A (CCDC78) XP_011520664.1:p.Ser510Tyr
XM_011522363.1:c.1529C>A (CCDC78) XP_011520665.1:p.Ser510Tyr
XM_011522364.1:c.1529C>A (CCDC78) XP_011520666.1:p.Ser510Tyr
XM_011522365.1:c.1316C>A (CCDC78) XP_011520667.1:p.Ser439Tyr
XM_011522366.1:c.1307C>A (CCDC78) XP_011520668.1:p.Ser436Tyr
XM_011522367.1:c.1148C>A (CCDC78) XP_011520669.1:p.Ser383Tyr
XM_011522368.1:c.1136C>A (CCDC78) XP_011520670.1:p.Ser379Tyr
XM_011522369.1:c.1094C>A (CCDC78) XP_011520671.1:p.Ser365Tyr
XM_011522370.1:c.926C>A (CCDC78) XP_011520672.1:p.Ser309Tyr
XM_011522371.1:c.641C>A (CCDC78) XP_011520673.1:p.Ser214Tyr
XM_006720843.4:c.1082C>A (CCDC78) XP_006720906.1:p.Ser361Tyr
XM_011522358.2:c.1529C>A (CCDC78) XP_011520660.1:p.Ser510Tyr
XM_011522371.2:c.641C>A (CCDC78) XP_011520673.1:p.Ser214Tyr
XM_017022929.1:c.1529C>A (CCDC78) XP_016878418.1:p.Ser510Tyr
XM_017022930.1:c.629C>A (CCDC78) XP_016878419.1:p.Ser210Tyr
XM_017022931.1:c.-172C>A (CCDC78) XP_016878420.1:n.-172C>A
XM_024450150.1:c.359C>A (CCDC78) XP_024305918.1:p.Ser120Tyr
XR_001751835.1:n.1868C>A (CCDC78)
XR_001751836.1:n.1847C>A (CCDC78)
XR_001751837.1:n.1625C>A (CCDC78)
XR_001751838.1:n.1971C>A (CCDC78)
XR_001751839.1:n.1433C>A (CCDC78)
NM_001031737.3:c.1082C>A (CCDC78) NP_001026907.2:p.Ser361Tyr
NM_001378030.1:c.1082C>A (CCDC78) MANE Select NP_001364959.1:p.Ser361Tyr
NM_001378031.1:c.953+414C>A (CCDC78) NP_001364960.1:n.953+414C>A
NM_001378033.1:c.515C>A (CCDC78) NP_001364962.1:p.Ser172Tyr
NR_165382.1:n.1639C>A (CCDC78)
NR_165383.1:n.1285C>A (CCDC78)
NR_165384.1:n.1250C>A (CCDC78)
NR_165385.1:n.1350C>A (CCDC78)
NR_165386.1:n.1417C>A (CCDC78)