Canonical Allele Identifier: CA7789263

Linked Data

dbSNP Id: rs764612572
gnomAD v2: 16-773913-G-C
gnomAD v4: 16-723913-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723913G>C , CM000678.2:g.723913G>C GRCh38
NC_000016.9:g.773913G>C , CM000678.1:g.773913G>C GRCh37
NC_000016.8:g.713914G>C NCBI36
NG_032932.1:g.7561C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1620C>G (CCDC78)
ENST00000345165.10:c.1077C>G (CCDC78) MANE Select ENSP00000316851.5:p.Leu359=
ENST00000293889.10:c.1077C>G (CCDC78) ENSP00000293889.6:p.Leu359=
ENST00000345165.8:c.623C>G (CCDC78)
ENST00000463539.5:n.1399C>G (CCDC78)
ENST00000466708.5:n.1421C>G (CCDC78)
ENST00000478979.5:n.1724C>G (CCDC78)
ENST00000481804.5:n.2055C>G (CCDC78)
ENST00000482152.1:n.438C>G (CCDC78)
ENST00000482878.5:n.2127C>G (CCDC78)
ENST00000485091.5:n.1230C>G (CCDC78)
ENST00000620831.4:c.-49-38719G>C (MSLN) ENSP00000482893.1:n.-49-38719G>C
NM_001031737.2:c.1077C>G (CCDC78) NP_001026907.2:p.Leu359=
XM_006720838.1:c.1299C>G (CCDC78) XP_006720901.1:p.Leu433=
XM_006720843.2:c.1077C>G (CCDC78) XP_006720906.1:p.Leu359=
XM_011522356.1:c.1524C>G (CCDC78) XP_011520658.1:p.Leu508=
XM_011522357.1:c.1512C>G (CCDC78) XP_011520659.1:p.Leu504=
XM_011522358.1:c.1524C>G (CCDC78) XP_011520660.1:p.Leu508=
XM_011522359.1:c.1491C>G (CCDC78) XP_011520661.1:p.Leu497=
XM_011522360.1:c.1479C>G (CCDC78) XP_011520662.1:p.Leu493=
XM_011522361.1:c.1524C>G (CCDC78) XP_011520663.1:p.Leu508=
XM_011522362.1:c.1524C>G (CCDC78) XP_011520664.1:p.Leu508=
XM_011522363.1:c.1524C>G (CCDC78) XP_011520665.1:p.Leu508=
XM_011522364.1:c.1524C>G (CCDC78) XP_011520666.1:p.Leu508=
XM_011522365.1:c.1311C>G (CCDC78) XP_011520667.1:p.Leu437=
XM_011522366.1:c.1302C>G (CCDC78) XP_011520668.1:p.Leu434=
XM_011522367.1:c.1143C>G (CCDC78) XP_011520669.1:p.Leu381=
XM_011522368.1:c.1131C>G (CCDC78) XP_011520670.1:p.Leu377=
XM_011522369.1:c.1089C>G (CCDC78) XP_011520671.1:p.Leu363=
XM_011522370.1:c.921C>G (CCDC78) XP_011520672.1:p.Leu307=
XM_011522371.1:c.636C>G (CCDC78) XP_011520673.1:p.Leu212=
XM_006720843.4:c.1077C>G (CCDC78) XP_006720906.1:p.Leu359=
XM_011522358.2:c.1524C>G (CCDC78) XP_011520660.1:p.Leu508=
XM_011522371.2:c.636C>G (CCDC78) XP_011520673.1:p.Leu212=
XM_017022929.1:c.1524C>G (CCDC78) XP_016878418.1:p.Leu508=
XM_017022930.1:c.624C>G (CCDC78) XP_016878419.1:p.Leu208=
XM_017022931.1:c.-177C>G (CCDC78) XP_016878420.1:n.-177C>G
XM_024450150.1:c.354C>G (CCDC78) XP_024305918.1:p.Leu118=
XR_001751835.1:n.1863C>G (CCDC78)
XR_001751836.1:n.1842C>G (CCDC78)
XR_001751837.1:n.1620C>G (CCDC78)
XR_001751838.1:n.1966C>G (CCDC78)
XR_001751839.1:n.1428C>G (CCDC78)
NM_001031737.3:c.1077C>G (CCDC78) NP_001026907.2:p.Leu359=
NM_001378030.1:c.1077C>G (CCDC78) MANE Select NP_001364959.1:p.Leu359=
NM_001378031.1:c.953+409C>G (CCDC78) NP_001364960.1:n.953+409C>G
NM_001378033.1:c.510C>G (CCDC78) NP_001364962.1:p.Leu170=
NR_165382.1:n.1634C>G (CCDC78)
NR_165383.1:n.1280C>G (CCDC78)
NR_165384.1:n.1245C>G (CCDC78)
NR_165385.1:n.1345C>G (CCDC78)
NR_165386.1:n.1412C>G (CCDC78)