Canonical Allele Identifier: CA394098897

Linked Data

gnomAD v4: 16-724144-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724144C>G , CM000678.2:g.724144C>G GRCh38
NC_000016.9:g.774144C>G , CM000678.1:g.774144C>G GRCh37
NC_000016.8:g.714145C>G NCBI36
NG_032932.1:g.7330G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1558G>C (CCDC78)
ENST00000345165.10:c.1015G>C (CCDC78) MANE Select ENSP00000316851.5:p.Val339Leu
ENST00000293889.10:c.1015G>C (CCDC78) ENSP00000293889.6:p.Val339Leu
ENST00000345165.8:c.561G>C (CCDC78)
ENST00000463539.5:n.1337G>C (CCDC78)
ENST00000466708.5:n.1359G>C (CCDC78)
ENST00000478979.5:n.1493G>C (CCDC78)
ENST00000481804.5:n.1993G>C (CCDC78)
ENST00000482152.1:n.376G>C (CCDC78)
ENST00000482878.5:n.1896G>C (CCDC78)
ENST00000485091.5:n.1168G>C (CCDC78)
ENST00000620831.4:c.-49-38488C>G (MSLN) ENSP00000482893.1:n.-49-38488C>G
NM_001031737.2:c.1015G>C (CCDC78) NP_001026907.2:p.Val339Leu
XM_006720838.1:c.1237G>C (CCDC78) XP_006720901.1:p.Val413Leu
XM_006720843.2:c.1015G>C (CCDC78) XP_006720906.1:p.Val339Leu
XM_011522356.1:c.1462G>C (CCDC78) XP_011520658.1:p.Val488Leu
XM_011522357.1:c.1450G>C (CCDC78) XP_011520659.1:p.Val484Leu
XM_011522358.1:c.1462G>C (CCDC78) XP_011520660.1:p.Val488Leu
XM_011522359.1:c.1429G>C (CCDC78) XP_011520661.1:p.Val477Leu
XM_011522360.1:c.1417G>C (CCDC78) XP_011520662.1:p.Val473Leu
XM_011522361.1:c.1462G>C (CCDC78) XP_011520663.1:p.Val488Leu
XM_011522362.1:c.1462G>C (CCDC78) XP_011520664.1:p.Val488Leu
XM_011522363.1:c.1462G>C (CCDC78) XP_011520665.1:p.Val488Leu
XM_011522364.1:c.1462G>C (CCDC78) XP_011520666.1:p.Val488Leu
XM_011522365.1:c.1249G>C (CCDC78) XP_011520667.1:p.Val417Leu
XM_011522366.1:c.1240G>C (CCDC78) XP_011520668.1:p.Val414Leu
XM_011522367.1:c.1081G>C (CCDC78) XP_011520669.1:p.Val361Leu
XM_011522368.1:c.1069G>C (CCDC78) XP_011520670.1:p.Val357Leu
XM_011522369.1:c.1027G>C (CCDC78) XP_011520671.1:p.Val343Leu
XM_011522370.1:c.859G>C (CCDC78) XP_011520672.1:p.Val287Leu
XM_011522371.1:c.574G>C (CCDC78) XP_011520673.1:p.Val192Leu
XM_006720843.4:c.1015G>C (CCDC78) XP_006720906.1:p.Val339Leu
XM_011522358.2:c.1462G>C (CCDC78) XP_011520660.1:p.Val488Leu
XM_011522371.2:c.574G>C (CCDC78) XP_011520673.1:p.Val192Leu
XM_017022929.1:c.1462G>C (CCDC78) XP_016878418.1:p.Val488Leu
XM_017022930.1:c.562G>C (CCDC78) XP_016878419.1:p.Val188Leu
XM_024450150.1:c.292G>C (CCDC78) XP_024305918.1:p.Val98Leu
XR_001751835.1:n.1801G>C (CCDC78)
XR_001751836.1:n.1780G>C (CCDC78)
XR_001751837.1:n.1558G>C (CCDC78)
XR_001751838.1:n.1904G>C (CCDC78)
XR_001751839.1:n.1366G>C (CCDC78)
NM_001031737.3:c.1015G>C (CCDC78) NP_001026907.2:p.Val339Leu
NM_001378030.1:c.1015G>C (CCDC78) MANE Select NP_001364959.1:p.Val339Leu
NM_001378031.1:c.953+178G>C (CCDC78) NP_001364960.1:n.953+178G>C
NM_001378033.1:c.448G>C (CCDC78) NP_001364962.1:p.Val150Leu
NR_165382.1:n.1572G>C (CCDC78)
NR_165383.1:n.1218G>C (CCDC78)
NR_165384.1:n.1183G>C (CCDC78)
NR_165385.1:n.1283G>C (CCDC78)
NR_165386.1:n.1350G>C (CCDC78)