Canonical Allele Identifier: CA394098375

Linked Data

gnomAD v4: 16-723885-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723885C>A , CM000678.2:g.723885C>A GRCh38
NC_000016.9:g.773885C>A , CM000678.1:g.773885C>A GRCh37
NC_000016.8:g.713886C>A NCBI36
NG_032932.1:g.7589G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1648G>T (CCDC78)
ENST00000345165.10:c.1105G>T (CCDC78) MANE Select ENSP00000316851.5:p.Ala369Ser
ENST00000293889.10:c.1105G>T (CCDC78) ENSP00000293889.6:p.Ala369Ser
ENST00000345165.8:c.651G>T (CCDC78)
ENST00000463539.5:n.1427G>T (CCDC78)
ENST00000466708.5:n.1449G>T (CCDC78)
ENST00000478979.5:n.1752G>T (CCDC78)
ENST00000481804.5:n.2083G>T (CCDC78)
ENST00000482152.1:n.466G>T (CCDC78)
ENST00000482878.5:n.2155G>T (CCDC78)
ENST00000485091.5:n.1258G>T (CCDC78)
ENST00000620831.4:c.-49-38747C>A (MSLN) ENSP00000482893.1:n.-49-38747C>A
NM_001031737.2:c.1105G>T (CCDC78) NP_001026907.2:p.Ala369Ser
XM_006720838.1:c.1327G>T (CCDC78) XP_006720901.1:p.Ala443Ser
XM_006720843.2:c.1105G>T (CCDC78) XP_006720906.1:p.Ala369Ser
XM_011522356.1:c.1552G>T (CCDC78) XP_011520658.1:p.Ala518Ser
XM_011522357.1:c.1540G>T (CCDC78) XP_011520659.1:p.Ala514Ser
XM_011522358.1:c.1552G>T (CCDC78) XP_011520660.1:p.Ala518Ser
XM_011522359.1:c.1519G>T (CCDC78) XP_011520661.1:p.Ala507Ser
XM_011522360.1:c.1507G>T (CCDC78) XP_011520662.1:p.Ala503Ser
XM_011522361.1:c.1552G>T (CCDC78) XP_011520663.1:p.Ala518Ser
XM_011522362.1:c.1552G>T (CCDC78) XP_011520664.1:p.Ala518Ser
XM_011522363.1:c.1552G>T (CCDC78) XP_011520665.1:p.Ala518Ser
XM_011522364.1:c.1552G>T (CCDC78) XP_011520666.1:p.Ala518Ser
XM_011522365.1:c.1339G>T (CCDC78) XP_011520667.1:p.Ala447Ser
XM_011522366.1:c.1330G>T (CCDC78) XP_011520668.1:p.Ala444Ser
XM_011522367.1:c.1171G>T (CCDC78) XP_011520669.1:p.Ala391Ser
XM_011522368.1:c.1159G>T (CCDC78) XP_011520670.1:p.Ala387Ser
XM_011522369.1:c.1117G>T (CCDC78) XP_011520671.1:p.Ala373Ser
XM_011522370.1:c.949G>T (CCDC78) XP_011520672.1:p.Ala317Ser
XM_011522371.1:c.664G>T (CCDC78) XP_011520673.1:p.Ala222Ser
XM_006720843.4:c.1105G>T (CCDC78) XP_006720906.1:p.Ala369Ser
XM_011522358.2:c.1552G>T (CCDC78) XP_011520660.1:p.Ala518Ser
XM_011522371.2:c.664G>T (CCDC78) XP_011520673.1:p.Ala222Ser
XM_017022929.1:c.1552G>T (CCDC78) XP_016878418.1:p.Ala518Ser
XM_017022930.1:c.652G>T (CCDC78) XP_016878419.1:p.Ala218Ser
XM_017022931.1:c.-149G>T (CCDC78) XP_016878420.1:n.-149G>T
XM_024450150.1:c.382G>T (CCDC78) XP_024305918.1:p.Ala128Ser
XR_001751835.1:n.1891G>T (CCDC78)
XR_001751836.1:n.1870G>T (CCDC78)
XR_001751837.1:n.1648G>T (CCDC78)
XR_001751838.1:n.1994G>T (CCDC78)
XR_001751839.1:n.1456G>T (CCDC78)
NM_001031737.3:c.1105G>T (CCDC78) NP_001026907.2:p.Ala369Ser
NM_001378030.1:c.1105G>T (CCDC78) MANE Select NP_001364959.1:p.Ala369Ser
NM_001378031.1:c.953+437G>T (CCDC78) NP_001364960.1:n.953+437G>T
NM_001378033.1:c.538G>T (CCDC78) NP_001364962.1:p.Ala180Ser
NR_165382.1:n.1662G>T (CCDC78)
NR_165383.1:n.1308G>T (CCDC78)
NR_165384.1:n.1273G>T (CCDC78)
NR_165385.1:n.1373G>T (CCDC78)
NR_165386.1:n.1440G>T (CCDC78)