Canonical Allele Identifier: CA394098686

Linked Data

gnomAD v4: 16-724109-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724109G>C , CM000678.2:g.724109G>C GRCh38
NC_000016.9:g.774109G>C , CM000678.1:g.774109G>C GRCh37
NC_000016.8:g.714110G>C NCBI36
NG_032932.1:g.7365C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1593C>G (CCDC78)
ENST00000345165.10:c.1050C>G (CCDC78) MANE Select ENSP00000316851.5:p.Asp350Glu
ENST00000293889.10:c.1050C>G (CCDC78) ENSP00000293889.6:p.Asp350Glu
ENST00000345165.8:c.596C>G (CCDC78)
ENST00000463539.5:n.1372C>G (CCDC78)
ENST00000466708.5:n.1394C>G (CCDC78)
ENST00000478979.5:n.1528C>G (CCDC78)
ENST00000481804.5:n.2028C>G (CCDC78)
ENST00000482152.1:n.411C>G (CCDC78)
ENST00000482878.5:n.1931C>G (CCDC78)
ENST00000485091.5:n.1203C>G (CCDC78)
ENST00000620831.4:c.-49-38523G>C (MSLN) ENSP00000482893.1:n.-49-38523G>C
NM_001031737.2:c.1050C>G (CCDC78) NP_001026907.2:p.Asp350Glu
XM_006720838.1:c.1272C>G (CCDC78) XP_006720901.1:p.Asp424Glu
XM_006720843.2:c.1050C>G (CCDC78) XP_006720906.1:p.Asp350Glu
XM_011522356.1:c.1497C>G (CCDC78) XP_011520658.1:p.Asp499Glu
XM_011522357.1:c.1485C>G (CCDC78) XP_011520659.1:p.Asp495Glu
XM_011522358.1:c.1497C>G (CCDC78) XP_011520660.1:p.Asp499Glu
XM_011522359.1:c.1464C>G (CCDC78) XP_011520661.1:p.Asp488Glu
XM_011522360.1:c.1452C>G (CCDC78) XP_011520662.1:p.Asp484Glu
XM_011522361.1:c.1497C>G (CCDC78) XP_011520663.1:p.Asp499Glu
XM_011522362.1:c.1497C>G (CCDC78) XP_011520664.1:p.Asp499Glu
XM_011522363.1:c.1497C>G (CCDC78) XP_011520665.1:p.Asp499Glu
XM_011522364.1:c.1497C>G (CCDC78) XP_011520666.1:p.Asp499Glu
XM_011522365.1:c.1284C>G (CCDC78) XP_011520667.1:p.Asp428Glu
XM_011522366.1:c.1275C>G (CCDC78) XP_011520668.1:p.Asp425Glu
XM_011522367.1:c.1116C>G (CCDC78) XP_011520669.1:p.Asp372Glu
XM_011522368.1:c.1104C>G (CCDC78) XP_011520670.1:p.Asp368Glu
XM_011522369.1:c.1062C>G (CCDC78) XP_011520671.1:p.Asp354Glu
XM_011522370.1:c.894C>G (CCDC78) XP_011520672.1:p.Asp298Glu
XM_011522371.1:c.609C>G (CCDC78) XP_011520673.1:p.Asp203Glu
XM_006720843.4:c.1050C>G (CCDC78) XP_006720906.1:p.Asp350Glu
XM_011522358.2:c.1497C>G (CCDC78) XP_011520660.1:p.Asp499Glu
XM_011522371.2:c.609C>G (CCDC78) XP_011520673.1:p.Asp203Glu
XM_017022929.1:c.1497C>G (CCDC78) XP_016878418.1:p.Asp499Glu
XM_017022930.1:c.597C>G (CCDC78) XP_016878419.1:p.Asp199Glu
XM_024450150.1:c.327C>G (CCDC78) XP_024305918.1:p.Asp109Glu
XR_001751835.1:n.1836C>G (CCDC78)
XR_001751836.1:n.1815C>G (CCDC78)
XR_001751837.1:n.1593C>G (CCDC78)
XR_001751838.1:n.1939C>G (CCDC78)
XR_001751839.1:n.1401C>G (CCDC78)
NM_001031737.3:c.1050C>G (CCDC78) NP_001026907.2:p.Asp350Glu
NM_001378030.1:c.1050C>G (CCDC78) MANE Select NP_001364959.1:p.Asp350Glu
NM_001378031.1:c.953+213C>G (CCDC78) NP_001364960.1:n.953+213C>G
NM_001378033.1:c.483C>G (CCDC78) NP_001364962.1:p.Asp161Glu
NR_165382.1:n.1607C>G (CCDC78)
NR_165383.1:n.1253C>G (CCDC78)
NR_165384.1:n.1218C>G (CCDC78)
NR_165385.1:n.1318C>G (CCDC78)
NR_165386.1:n.1385C>G (CCDC78)