Canonical Allele Identifier: CA394098450

Linked Data

dbSNP Id: rs1326058660
gnomAD v2: 16-773912-A-G
gnomAD v4: 16-723912-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723912A>G , CM000678.2:g.723912A>G GRCh38
NC_000016.9:g.773912A>G , CM000678.1:g.773912A>G GRCh37
NC_000016.8:g.713913A>G NCBI36
NG_032932.1:g.7562T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1621T>C (CCDC78)
ENST00000345165.10:c.1078T>C (CCDC78) MANE Select ENSP00000316851.5:p.Ser360Pro
ENST00000293889.10:c.1078T>C (CCDC78) ENSP00000293889.6:p.Ser360Pro
ENST00000345165.8:c.624T>C (CCDC78)
ENST00000463539.5:n.1400T>C (CCDC78)
ENST00000466708.5:n.1422T>C (CCDC78)
ENST00000478979.5:n.1725T>C (CCDC78)
ENST00000481804.5:n.2056T>C (CCDC78)
ENST00000482152.1:n.439T>C (CCDC78)
ENST00000482878.5:n.2128T>C (CCDC78)
ENST00000485091.5:n.1231T>C (CCDC78)
ENST00000620831.4:c.-49-38720A>G (MSLN) ENSP00000482893.1:n.-49-38720A>G
NM_001031737.2:c.1078T>C (CCDC78) NP_001026907.2:p.Ser360Pro
XM_006720838.1:c.1300T>C (CCDC78) XP_006720901.1:p.Ser434Pro
XM_006720843.2:c.1078T>C (CCDC78) XP_006720906.1:p.Ser360Pro
XM_011522356.1:c.1525T>C (CCDC78) XP_011520658.1:p.Ser509Pro
XM_011522357.1:c.1513T>C (CCDC78) XP_011520659.1:p.Ser505Pro
XM_011522358.1:c.1525T>C (CCDC78) XP_011520660.1:p.Ser509Pro
XM_011522359.1:c.1492T>C (CCDC78) XP_011520661.1:p.Ser498Pro
XM_011522360.1:c.1480T>C (CCDC78) XP_011520662.1:p.Ser494Pro
XM_011522361.1:c.1525T>C (CCDC78) XP_011520663.1:p.Ser509Pro
XM_011522362.1:c.1525T>C (CCDC78) XP_011520664.1:p.Ser509Pro
XM_011522363.1:c.1525T>C (CCDC78) XP_011520665.1:p.Ser509Pro
XM_011522364.1:c.1525T>C (CCDC78) XP_011520666.1:p.Ser509Pro
XM_011522365.1:c.1312T>C (CCDC78) XP_011520667.1:p.Ser438Pro
XM_011522366.1:c.1303T>C (CCDC78) XP_011520668.1:p.Ser435Pro
XM_011522367.1:c.1144T>C (CCDC78) XP_011520669.1:p.Ser382Pro
XM_011522368.1:c.1132T>C (CCDC78) XP_011520670.1:p.Ser378Pro
XM_011522369.1:c.1090T>C (CCDC78) XP_011520671.1:p.Ser364Pro
XM_011522370.1:c.922T>C (CCDC78) XP_011520672.1:p.Ser308Pro
XM_011522371.1:c.637T>C (CCDC78) XP_011520673.1:p.Ser213Pro
XM_006720843.4:c.1078T>C (CCDC78) XP_006720906.1:p.Ser360Pro
XM_011522358.2:c.1525T>C (CCDC78) XP_011520660.1:p.Ser509Pro
XM_011522371.2:c.637T>C (CCDC78) XP_011520673.1:p.Ser213Pro
XM_017022929.1:c.1525T>C (CCDC78) XP_016878418.1:p.Ser509Pro
XM_017022930.1:c.625T>C (CCDC78) XP_016878419.1:p.Ser209Pro
XM_017022931.1:c.-176T>C (CCDC78) XP_016878420.1:n.-176T>C
XM_024450150.1:c.355T>C (CCDC78) XP_024305918.1:p.Ser119Pro
XR_001751835.1:n.1864T>C (CCDC78)
XR_001751836.1:n.1843T>C (CCDC78)
XR_001751837.1:n.1621T>C (CCDC78)
XR_001751838.1:n.1967T>C (CCDC78)
XR_001751839.1:n.1429T>C (CCDC78)
NM_001031737.3:c.1078T>C (CCDC78) NP_001026907.2:p.Ser360Pro
NM_001378030.1:c.1078T>C (CCDC78) MANE Select NP_001364959.1:p.Ser360Pro
NM_001378031.1:c.953+410T>C (CCDC78) NP_001364960.1:n.953+410T>C
NM_001378033.1:c.511T>C (CCDC78) NP_001364962.1:p.Ser171Pro
NR_165382.1:n.1635T>C (CCDC78)
NR_165383.1:n.1281T>C (CCDC78)
NR_165384.1:n.1246T>C (CCDC78)
NR_165385.1:n.1346T>C (CCDC78)
NR_165386.1:n.1413T>C (CCDC78)