Canonical Allele Identifier: CA7789268

Linked Data

dbSNP Id: rs200482808
gnomAD v2: 16-773929-C-G
gnomAD v3: 16-723929-C-G
gnomAD v4: 16-723929-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723929C>G , CM000678.2:g.723929C>G GRCh38
NC_000016.9:g.773929C>G , CM000678.1:g.773929C>G GRCh37
NC_000016.8:g.713930C>G NCBI36
NG_032932.1:g.7545G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1604G>C (CCDC78)
ENST00000345165.10:c.1061G>C (CCDC78) MANE Select ENSP00000316851.5:p.Gly354Ala
ENST00000293889.10:c.1061G>C (CCDC78) ENSP00000293889.6:p.Gly354Ala
ENST00000345165.8:c.607G>C (CCDC78)
ENST00000463539.5:n.1383G>C (CCDC78)
ENST00000466708.5:n.1405G>C (CCDC78)
ENST00000478979.5:n.1708G>C (CCDC78)
ENST00000481804.5:n.2039G>C (CCDC78)
ENST00000482152.1:n.422G>C (CCDC78)
ENST00000482878.5:n.2111G>C (CCDC78)
ENST00000485091.5:n.1214G>C (CCDC78)
ENST00000620831.4:c.-49-38703C>G (MSLN) ENSP00000482893.1:n.-49-38703C>G
NM_001031737.2:c.1061G>C (CCDC78) NP_001026907.2:p.Gly354Ala
XM_006720838.1:c.1283G>C (CCDC78) XP_006720901.1:p.Gly428Ala
XM_006720843.2:c.1061G>C (CCDC78) XP_006720906.1:p.Gly354Ala
XM_011522356.1:c.1508G>C (CCDC78) XP_011520658.1:p.Gly503Ala
XM_011522357.1:c.1496G>C (CCDC78) XP_011520659.1:p.Gly499Ala
XM_011522358.1:c.1508G>C (CCDC78) XP_011520660.1:p.Gly503Ala
XM_011522359.1:c.1475G>C (CCDC78) XP_011520661.1:p.Gly492Ala
XM_011522360.1:c.1463G>C (CCDC78) XP_011520662.1:p.Gly488Ala
XM_011522361.1:c.1508G>C (CCDC78) XP_011520663.1:p.Gly503Ala
XM_011522362.1:c.1508G>C (CCDC78) XP_011520664.1:p.Gly503Ala
XM_011522363.1:c.1508G>C (CCDC78) XP_011520665.1:p.Gly503Ala
XM_011522364.1:c.1508G>C (CCDC78) XP_011520666.1:p.Gly503Ala
XM_011522365.1:c.1295G>C (CCDC78) XP_011520667.1:p.Gly432Ala
XM_011522366.1:c.1286G>C (CCDC78) XP_011520668.1:p.Gly429Ala
XM_011522367.1:c.1127G>C (CCDC78) XP_011520669.1:p.Gly376Ala
XM_011522368.1:c.1115G>C (CCDC78) XP_011520670.1:p.Gly372Ala
XM_011522369.1:c.1073G>C (CCDC78) XP_011520671.1:p.Gly358Ala
XM_011522370.1:c.905G>C (CCDC78) XP_011520672.1:p.Gly302Ala
XM_011522371.1:c.620G>C (CCDC78) XP_011520673.1:p.Gly207Ala
XM_006720843.4:c.1061G>C (CCDC78) XP_006720906.1:p.Gly354Ala
XM_011522358.2:c.1508G>C (CCDC78) XP_011520660.1:p.Gly503Ala
XM_011522371.2:c.620G>C (CCDC78) XP_011520673.1:p.Gly207Ala
XM_017022929.1:c.1508G>C (CCDC78) XP_016878418.1:p.Gly503Ala
XM_017022930.1:c.608G>C (CCDC78) XP_016878419.1:p.Gly203Ala
XM_017022931.1:c.-193G>C (CCDC78) XP_016878420.1:n.-193G>C
XM_024450150.1:c.338G>C (CCDC78) XP_024305918.1:p.Gly113Ala
XR_001751835.1:n.1847G>C (CCDC78)
XR_001751836.1:n.1826G>C (CCDC78)
XR_001751837.1:n.1604G>C (CCDC78)
XR_001751838.1:n.1950G>C (CCDC78)
XR_001751839.1:n.1412G>C (CCDC78)
NM_001031737.3:c.1061G>C (CCDC78) NP_001026907.2:p.Gly354Ala
NM_001378030.1:c.1061G>C (CCDC78) MANE Select NP_001364959.1:p.Gly354Ala
NM_001378031.1:c.953+393G>C (CCDC78) NP_001364960.1:n.953+393G>C
NM_001378033.1:c.494G>C (CCDC78) NP_001364962.1:p.Gly165Ala
NR_165382.1:n.1618G>C (CCDC78)
NR_165383.1:n.1264G>C (CCDC78)
NR_165384.1:n.1229G>C (CCDC78)
NR_165385.1:n.1329G>C (CCDC78)
NR_165386.1:n.1396G>C (CCDC78)