Canonical Allele Identifier: CA394098698

Linked Data

gnomAD v4: 16-724110-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724110T>C , CM000678.2:g.724110T>C GRCh38
NC_000016.9:g.774110T>C , CM000678.1:g.774110T>C GRCh37
NC_000016.8:g.714111T>C NCBI36
NG_032932.1:g.7364A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1592A>G (CCDC78)
ENST00000345165.10:c.1049A>G (CCDC78) MANE Select ENSP00000316851.5:p.Asp350Gly
ENST00000293889.10:c.1049A>G (CCDC78) ENSP00000293889.6:p.Asp350Gly
ENST00000345165.8:c.595A>G (CCDC78)
ENST00000463539.5:n.1371A>G (CCDC78)
ENST00000466708.5:n.1393A>G (CCDC78)
ENST00000478979.5:n.1527A>G (CCDC78)
ENST00000481804.5:n.2027A>G (CCDC78)
ENST00000482152.1:n.410A>G (CCDC78)
ENST00000482878.5:n.1930A>G (CCDC78)
ENST00000485091.5:n.1202A>G (CCDC78)
ENST00000620831.4:c.-49-38522T>C (MSLN) ENSP00000482893.1:n.-49-38522T>C
NM_001031737.2:c.1049A>G (CCDC78) NP_001026907.2:p.Asp350Gly
XM_006720838.1:c.1271A>G (CCDC78) XP_006720901.1:p.Asp424Gly
XM_006720843.2:c.1049A>G (CCDC78) XP_006720906.1:p.Asp350Gly
XM_011522356.1:c.1496A>G (CCDC78) XP_011520658.1:p.Asp499Gly
XM_011522357.1:c.1484A>G (CCDC78) XP_011520659.1:p.Asp495Gly
XM_011522358.1:c.1496A>G (CCDC78) XP_011520660.1:p.Asp499Gly
XM_011522359.1:c.1463A>G (CCDC78) XP_011520661.1:p.Asp488Gly
XM_011522360.1:c.1451A>G (CCDC78) XP_011520662.1:p.Asp484Gly
XM_011522361.1:c.1496A>G (CCDC78) XP_011520663.1:p.Asp499Gly
XM_011522362.1:c.1496A>G (CCDC78) XP_011520664.1:p.Asp499Gly
XM_011522363.1:c.1496A>G (CCDC78) XP_011520665.1:p.Asp499Gly
XM_011522364.1:c.1496A>G (CCDC78) XP_011520666.1:p.Asp499Gly
XM_011522365.1:c.1283A>G (CCDC78) XP_011520667.1:p.Asp428Gly
XM_011522366.1:c.1274A>G (CCDC78) XP_011520668.1:p.Asp425Gly
XM_011522367.1:c.1115A>G (CCDC78) XP_011520669.1:p.Asp372Gly
XM_011522368.1:c.1103A>G (CCDC78) XP_011520670.1:p.Asp368Gly
XM_011522369.1:c.1061A>G (CCDC78) XP_011520671.1:p.Asp354Gly
XM_011522370.1:c.893A>G (CCDC78) XP_011520672.1:p.Asp298Gly
XM_011522371.1:c.608A>G (CCDC78) XP_011520673.1:p.Asp203Gly
XM_006720843.4:c.1049A>G (CCDC78) XP_006720906.1:p.Asp350Gly
XM_011522358.2:c.1496A>G (CCDC78) XP_011520660.1:p.Asp499Gly
XM_011522371.2:c.608A>G (CCDC78) XP_011520673.1:p.Asp203Gly
XM_017022929.1:c.1496A>G (CCDC78) XP_016878418.1:p.Asp499Gly
XM_017022930.1:c.596A>G (CCDC78) XP_016878419.1:p.Asp199Gly
XM_024450150.1:c.326A>G (CCDC78) XP_024305918.1:p.Asp109Gly
XR_001751835.1:n.1835A>G (CCDC78)
XR_001751836.1:n.1814A>G (CCDC78)
XR_001751837.1:n.1592A>G (CCDC78)
XR_001751838.1:n.1938A>G (CCDC78)
XR_001751839.1:n.1400A>G (CCDC78)
NM_001031737.3:c.1049A>G (CCDC78) NP_001026907.2:p.Asp350Gly
NM_001378030.1:c.1049A>G (CCDC78) MANE Select NP_001364959.1:p.Asp350Gly
NM_001378031.1:c.953+212A>G (CCDC78) NP_001364960.1:n.953+212A>G
NM_001378033.1:c.482A>G (CCDC78) NP_001364962.1:p.Asp161Gly
NR_165382.1:n.1606A>G (CCDC78)
NR_165383.1:n.1252A>G (CCDC78)
NR_165384.1:n.1217A>G (CCDC78)
NR_165385.1:n.1317A>G (CCDC78)
NR_165386.1:n.1384A>G (CCDC78)