Canonical Allele Identifier: CA394098540

Linked Data

dbSNP Id: rs754906673
gnomAD v2: 16-773933-C-A
gnomAD v3: 16-723933-C-A
gnomAD v4: 16-723933-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723933C>A , CM000678.2:g.723933C>A GRCh38
NC_000016.9:g.773933C>A , CM000678.1:g.773933C>A GRCh37
NC_000016.8:g.713934C>A NCBI36
NG_032932.1:g.7541G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1600G>T (CCDC78)
ENST00000345165.10:c.1057G>T (CCDC78) MANE Select ENSP00000316851.5:p.Gly353Cys
ENST00000293889.10:c.1057G>T (CCDC78) ENSP00000293889.6:p.Gly353Cys
ENST00000345165.8:c.603G>T (CCDC78)
ENST00000463539.5:n.1379G>T (CCDC78)
ENST00000466708.5:n.1401G>T (CCDC78)
ENST00000478979.5:n.1704G>T (CCDC78)
ENST00000481804.5:n.2035G>T (CCDC78)
ENST00000482152.1:n.418G>T (CCDC78)
ENST00000482878.5:n.2107G>T (CCDC78)
ENST00000485091.5:n.1210G>T (CCDC78)
ENST00000620831.4:c.-49-38699C>A (MSLN) ENSP00000482893.1:n.-49-38699C>A
NM_001031737.2:c.1057G>T (CCDC78) NP_001026907.2:p.Gly353Cys
XM_006720838.1:c.1279G>T (CCDC78) XP_006720901.1:p.Gly427Cys
XM_006720843.2:c.1057G>T (CCDC78) XP_006720906.1:p.Gly353Cys
XM_011522356.1:c.1504G>T (CCDC78) XP_011520658.1:p.Gly502Cys
XM_011522357.1:c.1492G>T (CCDC78) XP_011520659.1:p.Gly498Cys
XM_011522358.1:c.1504G>T (CCDC78) XP_011520660.1:p.Gly502Cys
XM_011522359.1:c.1471G>T (CCDC78) XP_011520661.1:p.Gly491Cys
XM_011522360.1:c.1459G>T (CCDC78) XP_011520662.1:p.Gly487Cys
XM_011522361.1:c.1504G>T (CCDC78) XP_011520663.1:p.Gly502Cys
XM_011522362.1:c.1504G>T (CCDC78) XP_011520664.1:p.Gly502Cys
XM_011522363.1:c.1504G>T (CCDC78) XP_011520665.1:p.Gly502Cys
XM_011522364.1:c.1504G>T (CCDC78) XP_011520666.1:p.Gly502Cys
XM_011522365.1:c.1291G>T (CCDC78) XP_011520667.1:p.Gly431Cys
XM_011522366.1:c.1282G>T (CCDC78) XP_011520668.1:p.Gly428Cys
XM_011522367.1:c.1123G>T (CCDC78) XP_011520669.1:p.Gly375Cys
XM_011522368.1:c.1111G>T (CCDC78) XP_011520670.1:p.Gly371Cys
XM_011522369.1:c.1069G>T (CCDC78) XP_011520671.1:p.Gly357Cys
XM_011522370.1:c.901G>T (CCDC78) XP_011520672.1:p.Gly301Cys
XM_011522371.1:c.616G>T (CCDC78) XP_011520673.1:p.Gly206Cys
XM_006720843.4:c.1057G>T (CCDC78) XP_006720906.1:p.Gly353Cys
XM_011522358.2:c.1504G>T (CCDC78) XP_011520660.1:p.Gly502Cys
XM_011522371.2:c.616G>T (CCDC78) XP_011520673.1:p.Gly206Cys
XM_017022929.1:c.1504G>T (CCDC78) XP_016878418.1:p.Gly502Cys
XM_017022930.1:c.604G>T (CCDC78) XP_016878419.1:p.Gly202Cys
XM_017022931.1:c.-197G>T (CCDC78) XP_016878420.1:n.-197G>T
XM_024450150.1:c.334G>T (CCDC78) XP_024305918.1:p.Gly112Cys
XR_001751835.1:n.1843G>T (CCDC78)
XR_001751836.1:n.1822G>T (CCDC78)
XR_001751837.1:n.1600G>T (CCDC78)
XR_001751838.1:n.1946G>T (CCDC78)
XR_001751839.1:n.1408G>T (CCDC78)
NM_001031737.3:c.1057G>T (CCDC78) NP_001026907.2:p.Gly353Cys
NM_001378030.1:c.1057G>T (CCDC78) MANE Select NP_001364959.1:p.Gly353Cys
NM_001378031.1:c.953+389G>T (CCDC78) NP_001364960.1:n.953+389G>T
NM_001378033.1:c.490G>T (CCDC78) NP_001364962.1:p.Gly164Cys
NR_165382.1:n.1614G>T (CCDC78)
NR_165383.1:n.1260G>T (CCDC78)
NR_165384.1:n.1225G>T (CCDC78)
NR_165385.1:n.1325G>T (CCDC78)
NR_165386.1:n.1392G>T (CCDC78)