Canonical Allele Identifier: CA394098876

Linked Data

gnomAD v4: 16-724138-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724138G>T , CM000678.2:g.724138G>T GRCh38
NC_000016.9:g.774138G>T , CM000678.1:g.774138G>T GRCh37
NC_000016.8:g.714139G>T NCBI36
NG_032932.1:g.7336C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1564C>A (CCDC78)
ENST00000345165.10:c.1021C>A (CCDC78) MANE Select ENSP00000316851.5:p.Leu341Met
ENST00000293889.10:c.1021C>A (CCDC78) ENSP00000293889.6:p.Leu341Met
ENST00000345165.8:c.567C>A (CCDC78)
ENST00000463539.5:n.1343C>A (CCDC78)
ENST00000466708.5:n.1365C>A (CCDC78)
ENST00000478979.5:n.1499C>A (CCDC78)
ENST00000481804.5:n.1999C>A (CCDC78)
ENST00000482152.1:n.382C>A (CCDC78)
ENST00000482878.5:n.1902C>A (CCDC78)
ENST00000485091.5:n.1174C>A (CCDC78)
ENST00000620831.4:c.-49-38494G>T (MSLN) ENSP00000482893.1:n.-49-38494G>T
NM_001031737.2:c.1021C>A (CCDC78) NP_001026907.2:p.Leu341Met
XM_006720838.1:c.1243C>A (CCDC78) XP_006720901.1:p.Leu415Met
XM_006720843.2:c.1021C>A (CCDC78) XP_006720906.1:p.Leu341Met
XM_011522356.1:c.1468C>A (CCDC78) XP_011520658.1:p.Leu490Met
XM_011522357.1:c.1456C>A (CCDC78) XP_011520659.1:p.Leu486Met
XM_011522358.1:c.1468C>A (CCDC78) XP_011520660.1:p.Leu490Met
XM_011522359.1:c.1435C>A (CCDC78) XP_011520661.1:p.Leu479Met
XM_011522360.1:c.1423C>A (CCDC78) XP_011520662.1:p.Leu475Met
XM_011522361.1:c.1468C>A (CCDC78) XP_011520663.1:p.Leu490Met
XM_011522362.1:c.1468C>A (CCDC78) XP_011520664.1:p.Leu490Met
XM_011522363.1:c.1468C>A (CCDC78) XP_011520665.1:p.Leu490Met
XM_011522364.1:c.1468C>A (CCDC78) XP_011520666.1:p.Leu490Met
XM_011522365.1:c.1255C>A (CCDC78) XP_011520667.1:p.Leu419Met
XM_011522366.1:c.1246C>A (CCDC78) XP_011520668.1:p.Leu416Met
XM_011522367.1:c.1087C>A (CCDC78) XP_011520669.1:p.Leu363Met
XM_011522368.1:c.1075C>A (CCDC78) XP_011520670.1:p.Leu359Met
XM_011522369.1:c.1033C>A (CCDC78) XP_011520671.1:p.Leu345Met
XM_011522370.1:c.865C>A (CCDC78) XP_011520672.1:p.Leu289Met
XM_011522371.1:c.580C>A (CCDC78) XP_011520673.1:p.Leu194Met
XM_006720843.4:c.1021C>A (CCDC78) XP_006720906.1:p.Leu341Met
XM_011522358.2:c.1468C>A (CCDC78) XP_011520660.1:p.Leu490Met
XM_011522371.2:c.580C>A (CCDC78) XP_011520673.1:p.Leu194Met
XM_017022929.1:c.1468C>A (CCDC78) XP_016878418.1:p.Leu490Met
XM_017022930.1:c.568C>A (CCDC78) XP_016878419.1:p.Leu190Met
XM_024450150.1:c.298C>A (CCDC78) XP_024305918.1:p.Leu100Met
XR_001751835.1:n.1807C>A (CCDC78)
XR_001751836.1:n.1786C>A (CCDC78)
XR_001751837.1:n.1564C>A (CCDC78)
XR_001751838.1:n.1910C>A (CCDC78)
XR_001751839.1:n.1372C>A (CCDC78)
NM_001031737.3:c.1021C>A (CCDC78) NP_001026907.2:p.Leu341Met
NM_001378030.1:c.1021C>A (CCDC78) MANE Select NP_001364959.1:p.Leu341Met
NM_001378031.1:c.953+184C>A (CCDC78) NP_001364960.1:n.953+184C>A
NM_001378033.1:c.454C>A (CCDC78) NP_001364962.1:p.Leu152Met
NR_165382.1:n.1578C>A (CCDC78)
NR_165383.1:n.1224C>A (CCDC78)
NR_165384.1:n.1189C>A (CCDC78)
NR_165385.1:n.1289C>A (CCDC78)
NR_165386.1:n.1356C>A (CCDC78)