Canonical Allele Identifier: CA394098367

Linked Data

gnomAD v4: 16-723881-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723881G>A , CM000678.2:g.723881G>A GRCh38
NC_000016.9:g.773881G>A , CM000678.1:g.773881G>A GRCh37
NC_000016.8:g.713882G>A NCBI36
NG_032932.1:g.7593C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1652C>T (CCDC78)
ENST00000345165.10:c.1109C>T (CCDC78) MANE Select ENSP00000316851.5:p.Ser370Phe
ENST00000293889.10:c.1109C>T (CCDC78) ENSP00000293889.6:p.Ser370Phe
ENST00000345165.8:c.655C>T (CCDC78)
ENST00000463539.5:n.1431C>T (CCDC78)
ENST00000466708.5:n.1453C>T (CCDC78)
ENST00000478979.5:n.1756C>T (CCDC78)
ENST00000481804.5:n.2087C>T (CCDC78)
ENST00000482152.1:n.470C>T (CCDC78)
ENST00000482878.5:n.2159C>T (CCDC78)
ENST00000485091.5:n.1262C>T (CCDC78)
ENST00000620831.4:c.-49-38751G>A (MSLN) ENSP00000482893.1:n.-49-38751G>A
NM_001031737.2:c.1109C>T (CCDC78) NP_001026907.2:p.Ser370Phe
XM_006720838.1:c.1331C>T (CCDC78) XP_006720901.1:p.Ser444Phe
XM_006720843.2:c.1109C>T (CCDC78) XP_006720906.1:p.Ser370Phe
XM_011522356.1:c.1556C>T (CCDC78) XP_011520658.1:p.Ser519Phe
XM_011522357.1:c.1544C>T (CCDC78) XP_011520659.1:p.Ser515Phe
XM_011522358.1:c.1556C>T (CCDC78) XP_011520660.1:p.Ser519Phe
XM_011522359.1:c.1523C>T (CCDC78) XP_011520661.1:p.Ser508Phe
XM_011522360.1:c.1511C>T (CCDC78) XP_011520662.1:p.Ser504Phe
XM_011522361.1:c.1556C>T (CCDC78) XP_011520663.1:p.Ser519Phe
XM_011522362.1:c.1556C>T (CCDC78) XP_011520664.1:p.Ser519Phe
XM_011522363.1:c.1556C>T (CCDC78) XP_011520665.1:p.Ser519Phe
XM_011522364.1:c.1556C>T (CCDC78) XP_011520666.1:p.Ser519Phe
XM_011522365.1:c.1343C>T (CCDC78) XP_011520667.1:p.Ser448Phe
XM_011522366.1:c.1334C>T (CCDC78) XP_011520668.1:p.Ser445Phe
XM_011522367.1:c.1175C>T (CCDC78) XP_011520669.1:p.Ser392Phe
XM_011522368.1:c.1163C>T (CCDC78) XP_011520670.1:p.Ser388Phe
XM_011522369.1:c.1121C>T (CCDC78) XP_011520671.1:p.Ser374Phe
XM_011522370.1:c.953C>T (CCDC78) XP_011520672.1:p.Ser318Phe
XM_011522371.1:c.668C>T (CCDC78) XP_011520673.1:p.Ser223Phe
XM_006720843.4:c.1109C>T (CCDC78) XP_006720906.1:p.Ser370Phe
XM_011522358.2:c.1556C>T (CCDC78) XP_011520660.1:p.Ser519Phe
XM_011522371.2:c.668C>T (CCDC78) XP_011520673.1:p.Ser223Phe
XM_017022929.1:c.1556C>T (CCDC78) XP_016878418.1:p.Ser519Phe
XM_017022930.1:c.656C>T (CCDC78) XP_016878419.1:p.Ser219Phe
XM_017022931.1:c.-145C>T (CCDC78) XP_016878420.1:n.-145C>T
XM_024450150.1:c.386C>T (CCDC78) XP_024305918.1:p.Ser129Phe
XR_001751835.1:n.1895C>T (CCDC78)
XR_001751836.1:n.1874C>T (CCDC78)
XR_001751837.1:n.1652C>T (CCDC78)
XR_001751838.1:n.1998C>T (CCDC78)
XR_001751839.1:n.1460C>T (CCDC78)
NM_001031737.3:c.1109C>T (CCDC78) NP_001026907.2:p.Ser370Phe
NM_001378030.1:c.1109C>T (CCDC78) MANE Select NP_001364959.1:p.Ser370Phe
NM_001378031.1:c.953+441C>T (CCDC78) NP_001364960.1:n.953+441C>T
NM_001378033.1:c.542C>T (CCDC78) NP_001364962.1:p.Ser181Phe
NR_165382.1:n.1666C>T (CCDC78)
NR_165383.1:n.1312C>T (CCDC78)
NR_165384.1:n.1277C>T (CCDC78)
NR_165385.1:n.1377C>T (CCDC78)
NR_165386.1:n.1444C>T (CCDC78)