Canonical Allele Identifier: CA7789270

Linked Data

ClinVar Variation Id: 656254
ClinVar RCV Id: RCV000812632
dbSNP Id: rs773310049
gnomAD v2: 16-773931-G-A
gnomAD v3: 16-723931-G-A
gnomAD v4: 16-723931-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723931G>A , CM000678.2:g.723931G>A GRCh38
NC_000016.9:g.773931G>A , CM000678.1:g.773931G>A GRCh37
NC_000016.8:g.713932G>A NCBI36
NG_032932.1:g.7543C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1602C>T (CCDC78)
ENST00000345165.10:c.1059C>T (CCDC78) MANE Select ENSP00000316851.5:p.Gly353=
ENST00000293889.10:c.1059C>T (CCDC78) ENSP00000293889.6:p.Gly353=
ENST00000345165.8:c.605C>T (CCDC78)
ENST00000463539.5:n.1381C>T (CCDC78)
ENST00000466708.5:n.1403C>T (CCDC78)
ENST00000478979.5:n.1706C>T (CCDC78)
ENST00000481804.5:n.2037C>T (CCDC78)
ENST00000482152.1:n.420C>T (CCDC78)
ENST00000482878.5:n.2109C>T (CCDC78)
ENST00000485091.5:n.1212C>T (CCDC78)
ENST00000620831.4:c.-49-38701G>A (MSLN) ENSP00000482893.1:n.-49-38701G>A
NM_001031737.2:c.1059C>T (CCDC78) NP_001026907.2:p.Gly353=
XM_006720838.1:c.1281C>T (CCDC78) XP_006720901.1:p.Gly427=
XM_006720843.2:c.1059C>T (CCDC78) XP_006720906.1:p.Gly353=
XM_011522356.1:c.1506C>T (CCDC78) XP_011520658.1:p.Gly502=
XM_011522357.1:c.1494C>T (CCDC78) XP_011520659.1:p.Gly498=
XM_011522358.1:c.1506C>T (CCDC78) XP_011520660.1:p.Gly502=
XM_011522359.1:c.1473C>T (CCDC78) XP_011520661.1:p.Gly491=
XM_011522360.1:c.1461C>T (CCDC78) XP_011520662.1:p.Gly487=
XM_011522361.1:c.1506C>T (CCDC78) XP_011520663.1:p.Gly502=
XM_011522362.1:c.1506C>T (CCDC78) XP_011520664.1:p.Gly502=
XM_011522363.1:c.1506C>T (CCDC78) XP_011520665.1:p.Gly502=
XM_011522364.1:c.1506C>T (CCDC78) XP_011520666.1:p.Gly502=
XM_011522365.1:c.1293C>T (CCDC78) XP_011520667.1:p.Gly431=
XM_011522366.1:c.1284C>T (CCDC78) XP_011520668.1:p.Gly428=
XM_011522367.1:c.1125C>T (CCDC78) XP_011520669.1:p.Gly375=
XM_011522368.1:c.1113C>T (CCDC78) XP_011520670.1:p.Gly371=
XM_011522369.1:c.1071C>T (CCDC78) XP_011520671.1:p.Gly357=
XM_011522370.1:c.903C>T (CCDC78) XP_011520672.1:p.Gly301=
XM_011522371.1:c.618C>T (CCDC78) XP_011520673.1:p.Gly206=
XM_006720843.4:c.1059C>T (CCDC78) XP_006720906.1:p.Gly353=
XM_011522358.2:c.1506C>T (CCDC78) XP_011520660.1:p.Gly502=
XM_011522371.2:c.618C>T (CCDC78) XP_011520673.1:p.Gly206=
XM_017022929.1:c.1506C>T (CCDC78) XP_016878418.1:p.Gly502=
XM_017022930.1:c.606C>T (CCDC78) XP_016878419.1:p.Gly202=
XM_017022931.1:c.-195C>T (CCDC78) XP_016878420.1:n.-195C>T
XM_024450150.1:c.336C>T (CCDC78) XP_024305918.1:p.Gly112=
XR_001751835.1:n.1845C>T (CCDC78)
XR_001751836.1:n.1824C>T (CCDC78)
XR_001751837.1:n.1602C>T (CCDC78)
XR_001751838.1:n.1948C>T (CCDC78)
XR_001751839.1:n.1410C>T (CCDC78)
NM_001031737.3:c.1059C>T (CCDC78) NP_001026907.2:p.Gly353=
NM_001378030.1:c.1059C>T (CCDC78) MANE Select NP_001364959.1:p.Gly353=
NM_001378031.1:c.953+391C>T (CCDC78) NP_001364960.1:n.953+391C>T
NM_001378033.1:c.492C>T (CCDC78) NP_001364962.1:p.Gly164=
NR_165382.1:n.1616C>T (CCDC78)
NR_165383.1:n.1262C>T (CCDC78)
NR_165384.1:n.1227C>T (CCDC78)
NR_165385.1:n.1327C>T (CCDC78)
NR_165386.1:n.1394C>T (CCDC78)