Canonical Allele Identifier: CA394098714

Linked Data

dbSNP Id: rs1477415376
gnomAD v2: 16-774112-C-A
gnomAD v4: 16-724112-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724112C>A , CM000678.2:g.724112C>A GRCh38
NC_000016.9:g.774112C>A , CM000678.1:g.774112C>A GRCh37
NC_000016.8:g.714113C>A NCBI36
NG_032932.1:g.7362G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1590G>T (CCDC78)
ENST00000345165.10:c.1047G>T (CCDC78) MANE Select ENSP00000316851.5:p.Glu349Asp
ENST00000293889.10:c.1047G>T (CCDC78) ENSP00000293889.6:p.Glu349Asp
ENST00000345165.8:c.593G>T (CCDC78)
ENST00000463539.5:n.1369G>T (CCDC78)
ENST00000466708.5:n.1391G>T (CCDC78)
ENST00000478979.5:n.1525G>T (CCDC78)
ENST00000481804.5:n.2025G>T (CCDC78)
ENST00000482152.1:n.408G>T (CCDC78)
ENST00000482878.5:n.1928G>T (CCDC78)
ENST00000485091.5:n.1200G>T (CCDC78)
ENST00000620831.4:c.-49-38520C>A (MSLN) ENSP00000482893.1:n.-49-38520C>A
NM_001031737.2:c.1047G>T (CCDC78) NP_001026907.2:p.Glu349Asp
XM_006720838.1:c.1269G>T (CCDC78) XP_006720901.1:p.Glu423Asp
XM_006720843.2:c.1047G>T (CCDC78) XP_006720906.1:p.Glu349Asp
XM_011522356.1:c.1494G>T (CCDC78) XP_011520658.1:p.Glu498Asp
XM_011522357.1:c.1482G>T (CCDC78) XP_011520659.1:p.Glu494Asp
XM_011522358.1:c.1494G>T (CCDC78) XP_011520660.1:p.Glu498Asp
XM_011522359.1:c.1461G>T (CCDC78) XP_011520661.1:p.Glu487Asp
XM_011522360.1:c.1449G>T (CCDC78) XP_011520662.1:p.Glu483Asp
XM_011522361.1:c.1494G>T (CCDC78) XP_011520663.1:p.Glu498Asp
XM_011522362.1:c.1494G>T (CCDC78) XP_011520664.1:p.Glu498Asp
XM_011522363.1:c.1494G>T (CCDC78) XP_011520665.1:p.Glu498Asp
XM_011522364.1:c.1494G>T (CCDC78) XP_011520666.1:p.Glu498Asp
XM_011522365.1:c.1281G>T (CCDC78) XP_011520667.1:p.Glu427Asp
XM_011522366.1:c.1272G>T (CCDC78) XP_011520668.1:p.Glu424Asp
XM_011522367.1:c.1113G>T (CCDC78) XP_011520669.1:p.Glu371Asp
XM_011522368.1:c.1101G>T (CCDC78) XP_011520670.1:p.Glu367Asp
XM_011522369.1:c.1059G>T (CCDC78) XP_011520671.1:p.Glu353Asp
XM_011522370.1:c.891G>T (CCDC78) XP_011520672.1:p.Glu297Asp
XM_011522371.1:c.606G>T (CCDC78) XP_011520673.1:p.Glu202Asp
XM_006720843.4:c.1047G>T (CCDC78) XP_006720906.1:p.Glu349Asp
XM_011522358.2:c.1494G>T (CCDC78) XP_011520660.1:p.Glu498Asp
XM_011522371.2:c.606G>T (CCDC78) XP_011520673.1:p.Glu202Asp
XM_017022929.1:c.1494G>T (CCDC78) XP_016878418.1:p.Glu498Asp
XM_017022930.1:c.594G>T (CCDC78) XP_016878419.1:p.Glu198Asp
XM_024450150.1:c.324G>T (CCDC78) XP_024305918.1:p.Glu108Asp
XR_001751835.1:n.1833G>T (CCDC78)
XR_001751836.1:n.1812G>T (CCDC78)
XR_001751837.1:n.1590G>T (CCDC78)
XR_001751838.1:n.1936G>T (CCDC78)
XR_001751839.1:n.1398G>T (CCDC78)
NM_001031737.3:c.1047G>T (CCDC78) NP_001026907.2:p.Glu349Asp
NM_001378030.1:c.1047G>T (CCDC78) MANE Select NP_001364959.1:p.Glu349Asp
NM_001378031.1:c.953+210G>T (CCDC78) NP_001364960.1:n.953+210G>T
NM_001378033.1:c.480G>T (CCDC78) NP_001364962.1:p.Glu160Asp
NR_165382.1:n.1604G>T (CCDC78)
NR_165383.1:n.1250G>T (CCDC78)
NR_165384.1:n.1215G>T (CCDC78)
NR_165385.1:n.1315G>T (CCDC78)
NR_165386.1:n.1382G>T (CCDC78)