Canonical Allele Identifier: CA394098867

Linked Data

gnomAD v4: 16-724135-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724135C>T , CM000678.2:g.724135C>T GRCh38
NC_000016.9:g.774135C>T , CM000678.1:g.774135C>T GRCh37
NC_000016.8:g.714136C>T NCBI36
NG_032932.1:g.7339G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1567G>A (CCDC78)
ENST00000345165.10:c.1024G>A (CCDC78) MANE Select ENSP00000316851.5:p.Val342Ile
ENST00000293889.10:c.1024G>A (CCDC78) ENSP00000293889.6:p.Val342Ile
ENST00000345165.8:c.570G>A (CCDC78)
ENST00000463539.5:n.1346G>A (CCDC78)
ENST00000466708.5:n.1368G>A (CCDC78)
ENST00000478979.5:n.1502G>A (CCDC78)
ENST00000481804.5:n.2002G>A (CCDC78)
ENST00000482152.1:n.385G>A (CCDC78)
ENST00000482878.5:n.1905G>A (CCDC78)
ENST00000485091.5:n.1177G>A (CCDC78)
ENST00000620831.4:c.-49-38497C>T (MSLN) ENSP00000482893.1:n.-49-38497C>T
NM_001031737.2:c.1024G>A (CCDC78) NP_001026907.2:p.Val342Ile
XM_006720838.1:c.1246G>A (CCDC78) XP_006720901.1:p.Val416Ile
XM_006720843.2:c.1024G>A (CCDC78) XP_006720906.1:p.Val342Ile
XM_011522356.1:c.1471G>A (CCDC78) XP_011520658.1:p.Val491Ile
XM_011522357.1:c.1459G>A (CCDC78) XP_011520659.1:p.Val487Ile
XM_011522358.1:c.1471G>A (CCDC78) XP_011520660.1:p.Val491Ile
XM_011522359.1:c.1438G>A (CCDC78) XP_011520661.1:p.Val480Ile
XM_011522360.1:c.1426G>A (CCDC78) XP_011520662.1:p.Val476Ile
XM_011522361.1:c.1471G>A (CCDC78) XP_011520663.1:p.Val491Ile
XM_011522362.1:c.1471G>A (CCDC78) XP_011520664.1:p.Val491Ile
XM_011522363.1:c.1471G>A (CCDC78) XP_011520665.1:p.Val491Ile
XM_011522364.1:c.1471G>A (CCDC78) XP_011520666.1:p.Val491Ile
XM_011522365.1:c.1258G>A (CCDC78) XP_011520667.1:p.Val420Ile
XM_011522366.1:c.1249G>A (CCDC78) XP_011520668.1:p.Val417Ile
XM_011522367.1:c.1090G>A (CCDC78) XP_011520669.1:p.Val364Ile
XM_011522368.1:c.1078G>A (CCDC78) XP_011520670.1:p.Val360Ile
XM_011522369.1:c.1036G>A (CCDC78) XP_011520671.1:p.Val346Ile
XM_011522370.1:c.868G>A (CCDC78) XP_011520672.1:p.Val290Ile
XM_011522371.1:c.583G>A (CCDC78) XP_011520673.1:p.Val195Ile
XM_006720843.4:c.1024G>A (CCDC78) XP_006720906.1:p.Val342Ile
XM_011522358.2:c.1471G>A (CCDC78) XP_011520660.1:p.Val491Ile
XM_011522371.2:c.583G>A (CCDC78) XP_011520673.1:p.Val195Ile
XM_017022929.1:c.1471G>A (CCDC78) XP_016878418.1:p.Val491Ile
XM_017022930.1:c.571G>A (CCDC78) XP_016878419.1:p.Val191Ile
XM_024450150.1:c.301G>A (CCDC78) XP_024305918.1:p.Val101Ile
XR_001751835.1:n.1810G>A (CCDC78)
XR_001751836.1:n.1789G>A (CCDC78)
XR_001751837.1:n.1567G>A (CCDC78)
XR_001751838.1:n.1913G>A (CCDC78)
XR_001751839.1:n.1375G>A (CCDC78)
NM_001031737.3:c.1024G>A (CCDC78) NP_001026907.2:p.Val342Ile
NM_001378030.1:c.1024G>A (CCDC78) MANE Select NP_001364959.1:p.Val342Ile
NM_001378031.1:c.953+187G>A (CCDC78) NP_001364960.1:n.953+187G>A
NM_001378033.1:c.457G>A (CCDC78) NP_001364962.1:p.Val153Ile
NR_165382.1:n.1581G>A (CCDC78)
NR_165383.1:n.1227G>A (CCDC78)
NR_165384.1:n.1192G>A (CCDC78)
NR_165385.1:n.1292G>A (CCDC78)
NR_165386.1:n.1359G>A (CCDC78)