Canonical Allele Identifier: CA492830041

Linked Data

dbSNP Id: rs1376859989
gnomAD v2: 16-773874-C-T
gnomAD v4: 16-723874-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723874C>T , CM000678.2:g.723874C>T GRCh38
NC_000016.9:g.773874C>T , CM000678.1:g.773874C>T GRCh37
NC_000016.8:g.713875C>T NCBI36
NG_032932.1:g.7600G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1659G>A (CCDC78)
ENST00000345165.10:c.1116G>A (CCDC78) MANE Select ENSP00000316851.5:p.Gly372=
ENST00000293889.10:c.1116G>A (CCDC78) ENSP00000293889.6:p.Gly372=
ENST00000345165.8:c.662G>A (CCDC78)
ENST00000463539.5:n.1438G>A (CCDC78)
ENST00000466708.5:n.1460G>A (CCDC78)
ENST00000478979.5:n.1763G>A (CCDC78)
ENST00000481804.5:n.2094G>A (CCDC78)
ENST00000482152.1:n.477G>A (CCDC78)
ENST00000482878.5:n.2166G>A (CCDC78)
ENST00000485091.5:n.1269G>A (CCDC78)
ENST00000620831.4:c.-49-38758C>T (MSLN) ENSP00000482893.1:n.-49-38758C>T
NM_001031737.2:c.1116G>A (CCDC78) NP_001026907.2:p.Gly372=
XM_006720838.1:c.1338G>A (CCDC78) XP_006720901.1:p.Gly446=
XM_006720843.2:c.1116G>A (CCDC78) XP_006720906.1:p.Gly372=
XM_011522356.1:c.1563G>A (CCDC78) XP_011520658.1:p.Gly521=
XM_011522357.1:c.1551G>A (CCDC78) XP_011520659.1:p.Gly517=
XM_011522358.1:c.1563G>A (CCDC78) XP_011520660.1:p.Gly521=
XM_011522359.1:c.1530G>A (CCDC78) XP_011520661.1:p.Gly510=
XM_011522360.1:c.1518G>A (CCDC78) XP_011520662.1:p.Gly506=
XM_011522361.1:c.1563G>A (CCDC78) XP_011520663.1:p.Gly521=
XM_011522362.1:c.1563G>A (CCDC78) XP_011520664.1:p.Gly521=
XM_011522363.1:c.1563G>A (CCDC78) XP_011520665.1:p.Gly521=
XM_011522364.1:c.1563G>A (CCDC78) XP_011520666.1:p.Gly521=
XM_011522365.1:c.1350G>A (CCDC78) XP_011520667.1:p.Gly450=
XM_011522366.1:c.1341G>A (CCDC78) XP_011520668.1:p.Gly447=
XM_011522367.1:c.1182G>A (CCDC78) XP_011520669.1:p.Gly394=
XM_011522368.1:c.1170G>A (CCDC78) XP_011520670.1:p.Gly390=
XM_011522369.1:c.1128G>A (CCDC78) XP_011520671.1:p.Gly376=
XM_011522370.1:c.960G>A (CCDC78) XP_011520672.1:p.Gly320=
XM_011522371.1:c.675G>A (CCDC78) XP_011520673.1:p.Gly225=
XM_006720843.4:c.1116G>A (CCDC78) XP_006720906.1:p.Gly372=
XM_011522358.2:c.1563G>A (CCDC78) XP_011520660.1:p.Gly521=
XM_011522371.2:c.675G>A (CCDC78) XP_011520673.1:p.Gly225=
XM_017022929.1:c.1563G>A (CCDC78) XP_016878418.1:p.Gly521=
XM_017022930.1:c.663G>A (CCDC78) XP_016878419.1:p.Gly221=
XM_017022931.1:c.-138G>A (CCDC78) XP_016878420.1:n.-138G>A
XM_024450150.1:c.393G>A (CCDC78) XP_024305918.1:p.Gly131=
XR_001751835.1:n.1902G>A (CCDC78)
XR_001751836.1:n.1881G>A (CCDC78)
XR_001751837.1:n.1659G>A (CCDC78)
XR_001751838.1:n.2005G>A (CCDC78)
XR_001751839.1:n.1467G>A (CCDC78)
NM_001031737.3:c.1116G>A (CCDC78) NP_001026907.2:p.Gly372=
NM_001378030.1:c.1116G>A (CCDC78) MANE Select NP_001364959.1:p.Gly372=
NM_001378031.1:c.953+448G>A (CCDC78) NP_001364960.1:n.953+448G>A
NM_001378033.1:c.549G>A (CCDC78) NP_001364962.1:p.Gly183=
NR_165382.1:n.1673G>A (CCDC78)
NR_165383.1:n.1319G>A (CCDC78)
NR_165384.1:n.1284G>A (CCDC78)
NR_165385.1:n.1384G>A (CCDC78)
NR_165386.1:n.1451G>A (CCDC78)