Canonical Allele Identifier: CA394098379

Linked Data

gnomAD v4: 16-723888-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723888C>A , CM000678.2:g.723888C>A GRCh38
NC_000016.9:g.773888C>A , CM000678.1:g.773888C>A GRCh37
NC_000016.8:g.713889C>A NCBI36
NG_032932.1:g.7586G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1645G>T (CCDC78)
ENST00000345165.10:c.1102G>T (CCDC78) MANE Select ENSP00000316851.5:p.Gly368Ter
ENST00000293889.10:c.1102G>T (CCDC78) ENSP00000293889.6:p.Gly368Ter
ENST00000345165.8:c.648G>T (CCDC78)
ENST00000463539.5:n.1424G>T (CCDC78)
ENST00000466708.5:n.1446G>T (CCDC78)
ENST00000478979.5:n.1749G>T (CCDC78)
ENST00000481804.5:n.2080G>T (CCDC78)
ENST00000482152.1:n.463G>T (CCDC78)
ENST00000482878.5:n.2152G>T (CCDC78)
ENST00000485091.5:n.1255G>T (CCDC78)
ENST00000620831.4:c.-49-38744C>A (MSLN) ENSP00000482893.1:n.-49-38744C>A
NM_001031737.2:c.1102G>T (CCDC78) NP_001026907.2:p.Gly368Ter
XM_006720838.1:c.1324G>T (CCDC78) XP_006720901.1:p.Gly442Ter
XM_006720843.2:c.1102G>T (CCDC78) XP_006720906.1:p.Gly368Ter
XM_011522356.1:c.1549G>T (CCDC78) XP_011520658.1:p.Gly517Ter
XM_011522357.1:c.1537G>T (CCDC78) XP_011520659.1:p.Gly513Ter
XM_011522358.1:c.1549G>T (CCDC78) XP_011520660.1:p.Gly517Ter
XM_011522359.1:c.1516G>T (CCDC78) XP_011520661.1:p.Gly506Ter
XM_011522360.1:c.1504G>T (CCDC78) XP_011520662.1:p.Gly502Ter
XM_011522361.1:c.1549G>T (CCDC78) XP_011520663.1:p.Gly517Ter
XM_011522362.1:c.1549G>T (CCDC78) XP_011520664.1:p.Gly517Ter
XM_011522363.1:c.1549G>T (CCDC78) XP_011520665.1:p.Gly517Ter
XM_011522364.1:c.1549G>T (CCDC78) XP_011520666.1:p.Gly517Ter
XM_011522365.1:c.1336G>T (CCDC78) XP_011520667.1:p.Gly446Ter
XM_011522366.1:c.1327G>T (CCDC78) XP_011520668.1:p.Gly443Ter
XM_011522367.1:c.1168G>T (CCDC78) XP_011520669.1:p.Gly390Ter
XM_011522368.1:c.1156G>T (CCDC78) XP_011520670.1:p.Gly386Ter
XM_011522369.1:c.1114G>T (CCDC78) XP_011520671.1:p.Gly372Ter
XM_011522370.1:c.946G>T (CCDC78) XP_011520672.1:p.Gly316Ter
XM_011522371.1:c.661G>T (CCDC78) XP_011520673.1:p.Gly221Ter
XM_006720843.4:c.1102G>T (CCDC78) XP_006720906.1:p.Gly368Ter
XM_011522358.2:c.1549G>T (CCDC78) XP_011520660.1:p.Gly517Ter
XM_011522371.2:c.661G>T (CCDC78) XP_011520673.1:p.Gly221Ter
XM_017022929.1:c.1549G>T (CCDC78) XP_016878418.1:p.Gly517Ter
XM_017022930.1:c.649G>T (CCDC78) XP_016878419.1:p.Gly217Ter
XM_017022931.1:c.-152G>T (CCDC78) XP_016878420.1:n.-152G>T
XM_024450150.1:c.379G>T (CCDC78) XP_024305918.1:p.Gly127Ter
XR_001751835.1:n.1888G>T (CCDC78)
XR_001751836.1:n.1867G>T (CCDC78)
XR_001751837.1:n.1645G>T (CCDC78)
XR_001751838.1:n.1991G>T (CCDC78)
XR_001751839.1:n.1453G>T (CCDC78)
NM_001031737.3:c.1102G>T (CCDC78) NP_001026907.2:p.Gly368Ter
NM_001378030.1:c.1102G>T (CCDC78) MANE Select NP_001364959.1:p.Gly368Ter
NM_001378031.1:c.953+434G>T (CCDC78) NP_001364960.1:n.953+434G>T
NM_001378033.1:c.535G>T (CCDC78) NP_001364962.1:p.Gly179Ter
NR_165382.1:n.1659G>T (CCDC78)
NR_165383.1:n.1305G>T (CCDC78)
NR_165384.1:n.1270G>T (CCDC78)
NR_165385.1:n.1370G>T (CCDC78)
NR_165386.1:n.1437G>T (CCDC78)