Canonical Allele Identifier: CA394098390

Linked Data

gnomAD v4: 16-723894-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723894G>C , CM000678.2:g.723894G>C GRCh38
NC_000016.9:g.773894G>C , CM000678.1:g.773894G>C GRCh37
NC_000016.8:g.713895G>C NCBI36
NG_032932.1:g.7580C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1639C>G (CCDC78)
ENST00000345165.10:c.1096C>G (CCDC78) MANE Select ENSP00000316851.5:p.Pro366Ala
ENST00000293889.10:c.1096C>G (CCDC78) ENSP00000293889.6:p.Pro366Ala
ENST00000345165.8:c.642C>G (CCDC78)
ENST00000463539.5:n.1418C>G (CCDC78)
ENST00000466708.5:n.1440C>G (CCDC78)
ENST00000478979.5:n.1743C>G (CCDC78)
ENST00000481804.5:n.2074C>G (CCDC78)
ENST00000482152.1:n.457C>G (CCDC78)
ENST00000482878.5:n.2146C>G (CCDC78)
ENST00000485091.5:n.1249C>G (CCDC78)
ENST00000620831.4:c.-49-38738G>C (MSLN) ENSP00000482893.1:n.-49-38738G>C
NM_001031737.2:c.1096C>G (CCDC78) NP_001026907.2:p.Pro366Ala
XM_006720838.1:c.1318C>G (CCDC78) XP_006720901.1:p.Pro440Ala
XM_006720843.2:c.1096C>G (CCDC78) XP_006720906.1:p.Pro366Ala
XM_011522356.1:c.1543C>G (CCDC78) XP_011520658.1:p.Pro515Ala
XM_011522357.1:c.1531C>G (CCDC78) XP_011520659.1:p.Pro511Ala
XM_011522358.1:c.1543C>G (CCDC78) XP_011520660.1:p.Pro515Ala
XM_011522359.1:c.1510C>G (CCDC78) XP_011520661.1:p.Pro504Ala
XM_011522360.1:c.1498C>G (CCDC78) XP_011520662.1:p.Pro500Ala
XM_011522361.1:c.1543C>G (CCDC78) XP_011520663.1:p.Pro515Ala
XM_011522362.1:c.1543C>G (CCDC78) XP_011520664.1:p.Pro515Ala
XM_011522363.1:c.1543C>G (CCDC78) XP_011520665.1:p.Pro515Ala
XM_011522364.1:c.1543C>G (CCDC78) XP_011520666.1:p.Pro515Ala
XM_011522365.1:c.1330C>G (CCDC78) XP_011520667.1:p.Pro444Ala
XM_011522366.1:c.1321C>G (CCDC78) XP_011520668.1:p.Pro441Ala
XM_011522367.1:c.1162C>G (CCDC78) XP_011520669.1:p.Pro388Ala
XM_011522368.1:c.1150C>G (CCDC78) XP_011520670.1:p.Pro384Ala
XM_011522369.1:c.1108C>G (CCDC78) XP_011520671.1:p.Pro370Ala
XM_011522370.1:c.940C>G (CCDC78) XP_011520672.1:p.Pro314Ala
XM_011522371.1:c.655C>G (CCDC78) XP_011520673.1:p.Pro219Ala
XM_006720843.4:c.1096C>G (CCDC78) XP_006720906.1:p.Pro366Ala
XM_011522358.2:c.1543C>G (CCDC78) XP_011520660.1:p.Pro515Ala
XM_011522371.2:c.655C>G (CCDC78) XP_011520673.1:p.Pro219Ala
XM_017022929.1:c.1543C>G (CCDC78) XP_016878418.1:p.Pro515Ala
XM_017022930.1:c.643C>G (CCDC78) XP_016878419.1:p.Pro215Ala
XM_017022931.1:c.-158C>G (CCDC78) XP_016878420.1:n.-158C>G
XM_024450150.1:c.373C>G (CCDC78) XP_024305918.1:p.Pro125Ala
XR_001751835.1:n.1882C>G (CCDC78)
XR_001751836.1:n.1861C>G (CCDC78)
XR_001751837.1:n.1639C>G (CCDC78)
XR_001751838.1:n.1985C>G (CCDC78)
XR_001751839.1:n.1447C>G (CCDC78)
NM_001031737.3:c.1096C>G (CCDC78) NP_001026907.2:p.Pro366Ala
NM_001378030.1:c.1096C>G (CCDC78) MANE Select NP_001364959.1:p.Pro366Ala
NM_001378031.1:c.953+428C>G (CCDC78) NP_001364960.1:n.953+428C>G
NM_001378033.1:c.529C>G (CCDC78) NP_001364962.1:p.Pro177Ala
NR_165382.1:n.1653C>G (CCDC78)
NR_165383.1:n.1299C>G (CCDC78)
NR_165384.1:n.1264C>G (CCDC78)
NR_165385.1:n.1364C>G (CCDC78)
NR_165386.1:n.1431C>G (CCDC78)