Canonical Allele Identifier: CA7789261

Linked Data

dbSNP Id: rs775570221
gnomAD v2: 16-773904-T-G
gnomAD v4: 16-723904-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723904T>G , CM000678.2:g.723904T>G GRCh38
NC_000016.9:g.773904T>G , CM000678.1:g.773904T>G GRCh37
NC_000016.8:g.713905T>G NCBI36
NG_032932.1:g.7570A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1629A>C (CCDC78)
ENST00000345165.10:c.1086A>C (CCDC78) MANE Select ENSP00000316851.5:p.Pro362=
ENST00000293889.10:c.1086A>C (CCDC78) ENSP00000293889.6:p.Pro362=
ENST00000345165.8:c.632A>C (CCDC78)
ENST00000463539.5:n.1408A>C (CCDC78)
ENST00000466708.5:n.1430A>C (CCDC78)
ENST00000478979.5:n.1733A>C (CCDC78)
ENST00000481804.5:n.2064A>C (CCDC78)
ENST00000482152.1:n.447A>C (CCDC78)
ENST00000482878.5:n.2136A>C (CCDC78)
ENST00000485091.5:n.1239A>C (CCDC78)
ENST00000620831.4:c.-49-38728T>G (MSLN) ENSP00000482893.1:n.-49-38728T>G
NM_001031737.2:c.1086A>C (CCDC78) NP_001026907.2:p.Pro362=
XM_006720838.1:c.1308A>C (CCDC78) XP_006720901.1:p.Pro436=
XM_006720843.2:c.1086A>C (CCDC78) XP_006720906.1:p.Pro362=
XM_011522356.1:c.1533A>C (CCDC78) XP_011520658.1:p.Pro511=
XM_011522357.1:c.1521A>C (CCDC78) XP_011520659.1:p.Pro507=
XM_011522358.1:c.1533A>C (CCDC78) XP_011520660.1:p.Pro511=
XM_011522359.1:c.1500A>C (CCDC78) XP_011520661.1:p.Pro500=
XM_011522360.1:c.1488A>C (CCDC78) XP_011520662.1:p.Pro496=
XM_011522361.1:c.1533A>C (CCDC78) XP_011520663.1:p.Pro511=
XM_011522362.1:c.1533A>C (CCDC78) XP_011520664.1:p.Pro511=
XM_011522363.1:c.1533A>C (CCDC78) XP_011520665.1:p.Pro511=
XM_011522364.1:c.1533A>C (CCDC78) XP_011520666.1:p.Pro511=
XM_011522365.1:c.1320A>C (CCDC78) XP_011520667.1:p.Pro440=
XM_011522366.1:c.1311A>C (CCDC78) XP_011520668.1:p.Pro437=
XM_011522367.1:c.1152A>C (CCDC78) XP_011520669.1:p.Pro384=
XM_011522368.1:c.1140A>C (CCDC78) XP_011520670.1:p.Pro380=
XM_011522369.1:c.1098A>C (CCDC78) XP_011520671.1:p.Pro366=
XM_011522370.1:c.930A>C (CCDC78) XP_011520672.1:p.Pro310=
XM_011522371.1:c.645A>C (CCDC78) XP_011520673.1:p.Pro215=
XM_006720843.4:c.1086A>C (CCDC78) XP_006720906.1:p.Pro362=
XM_011522358.2:c.1533A>C (CCDC78) XP_011520660.1:p.Pro511=
XM_011522371.2:c.645A>C (CCDC78) XP_011520673.1:p.Pro215=
XM_017022929.1:c.1533A>C (CCDC78) XP_016878418.1:p.Pro511=
XM_017022930.1:c.633A>C (CCDC78) XP_016878419.1:p.Pro211=
XM_017022931.1:c.-168A>C (CCDC78) XP_016878420.1:n.-168A>C
XM_024450150.1:c.363A>C (CCDC78) XP_024305918.1:p.Pro121=
XR_001751835.1:n.1872A>C (CCDC78)
XR_001751836.1:n.1851A>C (CCDC78)
XR_001751837.1:n.1629A>C (CCDC78)
XR_001751838.1:n.1975A>C (CCDC78)
XR_001751839.1:n.1437A>C (CCDC78)
NM_001031737.3:c.1086A>C (CCDC78) NP_001026907.2:p.Pro362=
NM_001378030.1:c.1086A>C (CCDC78) MANE Select NP_001364959.1:p.Pro362=
NM_001378031.1:c.953+418A>C (CCDC78) NP_001364960.1:n.953+418A>C
NM_001378033.1:c.519A>C (CCDC78) NP_001364962.1:p.Pro173=
NR_165382.1:n.1643A>C (CCDC78)
NR_165383.1:n.1289A>C (CCDC78)
NR_165384.1:n.1254A>C (CCDC78)
NR_165385.1:n.1354A>C (CCDC78)
NR_165386.1:n.1421A>C (CCDC78)