Canonical Allele Identifier: CA7789260

Linked Data

dbSNP Id: rs377343810
gnomAD v2: 16-773899-T-G
gnomAD v3: 16-723899-T-G
gnomAD v4: 16-723899-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723899T>G , CM000678.2:g.723899T>G GRCh38
NC_000016.9:g.773899T>G , CM000678.1:g.773899T>G GRCh37
NC_000016.8:g.713900T>G NCBI36
NG_032932.1:g.7575A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1634A>C (CCDC78)
ENST00000345165.10:c.1091A>C (CCDC78) MANE Select ENSP00000316851.5:p.Lys364Thr
ENST00000293889.10:c.1091A>C (CCDC78) ENSP00000293889.6:p.Lys364Thr
ENST00000345165.8:c.637A>C (CCDC78)
ENST00000463539.5:n.1413A>C (CCDC78)
ENST00000466708.5:n.1435A>C (CCDC78)
ENST00000478979.5:n.1738A>C (CCDC78)
ENST00000481804.5:n.2069A>C (CCDC78)
ENST00000482152.1:n.452A>C (CCDC78)
ENST00000482878.5:n.2141A>C (CCDC78)
ENST00000485091.5:n.1244A>C (CCDC78)
ENST00000620831.4:c.-49-38733T>G (MSLN) ENSP00000482893.1:n.-49-38733T>G
NM_001031737.2:c.1091A>C (CCDC78) NP_001026907.2:p.Lys364Thr
XM_006720838.1:c.1313A>C (CCDC78) XP_006720901.1:p.Lys438Thr
XM_006720843.2:c.1091A>C (CCDC78) XP_006720906.1:p.Lys364Thr
XM_011522356.1:c.1538A>C (CCDC78) XP_011520658.1:p.Lys513Thr
XM_011522357.1:c.1526A>C (CCDC78) XP_011520659.1:p.Lys509Thr
XM_011522358.1:c.1538A>C (CCDC78) XP_011520660.1:p.Lys513Thr
XM_011522359.1:c.1505A>C (CCDC78) XP_011520661.1:p.Lys502Thr
XM_011522360.1:c.1493A>C (CCDC78) XP_011520662.1:p.Lys498Thr
XM_011522361.1:c.1538A>C (CCDC78) XP_011520663.1:p.Lys513Thr
XM_011522362.1:c.1538A>C (CCDC78) XP_011520664.1:p.Lys513Thr
XM_011522363.1:c.1538A>C (CCDC78) XP_011520665.1:p.Lys513Thr
XM_011522364.1:c.1538A>C (CCDC78) XP_011520666.1:p.Lys513Thr
XM_011522365.1:c.1325A>C (CCDC78) XP_011520667.1:p.Lys442Thr
XM_011522366.1:c.1316A>C (CCDC78) XP_011520668.1:p.Lys439Thr
XM_011522367.1:c.1157A>C (CCDC78) XP_011520669.1:p.Lys386Thr
XM_011522368.1:c.1145A>C (CCDC78) XP_011520670.1:p.Lys382Thr
XM_011522369.1:c.1103A>C (CCDC78) XP_011520671.1:p.Lys368Thr
XM_011522370.1:c.935A>C (CCDC78) XP_011520672.1:p.Lys312Thr
XM_011522371.1:c.650A>C (CCDC78) XP_011520673.1:p.Lys217Thr
XM_006720843.4:c.1091A>C (CCDC78) XP_006720906.1:p.Lys364Thr
XM_011522358.2:c.1538A>C (CCDC78) XP_011520660.1:p.Lys513Thr
XM_011522371.2:c.650A>C (CCDC78) XP_011520673.1:p.Lys217Thr
XM_017022929.1:c.1538A>C (CCDC78) XP_016878418.1:p.Lys513Thr
XM_017022930.1:c.638A>C (CCDC78) XP_016878419.1:p.Lys213Thr
XM_017022931.1:c.-163A>C (CCDC78) XP_016878420.1:n.-163A>C
XM_024450150.1:c.368A>C (CCDC78) XP_024305918.1:p.Lys123Thr
XR_001751835.1:n.1877A>C (CCDC78)
XR_001751836.1:n.1856A>C (CCDC78)
XR_001751837.1:n.1634A>C (CCDC78)
XR_001751838.1:n.1980A>C (CCDC78)
XR_001751839.1:n.1442A>C (CCDC78)
NM_001031737.3:c.1091A>C (CCDC78) NP_001026907.2:p.Lys364Thr
NM_001378030.1:c.1091A>C (CCDC78) MANE Select NP_001364959.1:p.Lys364Thr
NM_001378031.1:c.953+423A>C (CCDC78) NP_001364960.1:n.953+423A>C
NM_001378033.1:c.524A>C (CCDC78) NP_001364962.1:p.Lys175Thr
NR_165382.1:n.1648A>C (CCDC78)
NR_165383.1:n.1294A>C (CCDC78)
NR_165384.1:n.1259A>C (CCDC78)
NR_165385.1:n.1359A>C (CCDC78)
NR_165386.1:n.1426A>C (CCDC78)