Canonical Allele Identifier: CA394098887

Linked Data

gnomAD v4: 16-724141-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724141G>A , CM000678.2:g.724141G>A GRCh38
NC_000016.9:g.774141G>A , CM000678.1:g.774141G>A GRCh37
NC_000016.8:g.714142G>A NCBI36
NG_032932.1:g.7333C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1561C>T (CCDC78)
ENST00000345165.10:c.1018C>T (CCDC78) MANE Select ENSP00000316851.5:p.Pro340Ser
ENST00000293889.10:c.1018C>T (CCDC78) ENSP00000293889.6:p.Pro340Ser
ENST00000345165.8:c.564C>T (CCDC78)
ENST00000463539.5:n.1340C>T (CCDC78)
ENST00000466708.5:n.1362C>T (CCDC78)
ENST00000478979.5:n.1496C>T (CCDC78)
ENST00000481804.5:n.1996C>T (CCDC78)
ENST00000482152.1:n.379C>T (CCDC78)
ENST00000482878.5:n.1899C>T (CCDC78)
ENST00000485091.5:n.1171C>T (CCDC78)
ENST00000620831.4:c.-49-38491G>A (MSLN) ENSP00000482893.1:n.-49-38491G>A
NM_001031737.2:c.1018C>T (CCDC78) NP_001026907.2:p.Pro340Ser
XM_006720838.1:c.1240C>T (CCDC78) XP_006720901.1:p.Pro414Ser
XM_006720843.2:c.1018C>T (CCDC78) XP_006720906.1:p.Pro340Ser
XM_011522356.1:c.1465C>T (CCDC78) XP_011520658.1:p.Pro489Ser
XM_011522357.1:c.1453C>T (CCDC78) XP_011520659.1:p.Pro485Ser
XM_011522358.1:c.1465C>T (CCDC78) XP_011520660.1:p.Pro489Ser
XM_011522359.1:c.1432C>T (CCDC78) XP_011520661.1:p.Pro478Ser
XM_011522360.1:c.1420C>T (CCDC78) XP_011520662.1:p.Pro474Ser
XM_011522361.1:c.1465C>T (CCDC78) XP_011520663.1:p.Pro489Ser
XM_011522362.1:c.1465C>T (CCDC78) XP_011520664.1:p.Pro489Ser
XM_011522363.1:c.1465C>T (CCDC78) XP_011520665.1:p.Pro489Ser
XM_011522364.1:c.1465C>T (CCDC78) XP_011520666.1:p.Pro489Ser
XM_011522365.1:c.1252C>T (CCDC78) XP_011520667.1:p.Pro418Ser
XM_011522366.1:c.1243C>T (CCDC78) XP_011520668.1:p.Pro415Ser
XM_011522367.1:c.1084C>T (CCDC78) XP_011520669.1:p.Pro362Ser
XM_011522368.1:c.1072C>T (CCDC78) XP_011520670.1:p.Pro358Ser
XM_011522369.1:c.1030C>T (CCDC78) XP_011520671.1:p.Pro344Ser
XM_011522370.1:c.862C>T (CCDC78) XP_011520672.1:p.Pro288Ser
XM_011522371.1:c.577C>T (CCDC78) XP_011520673.1:p.Pro193Ser
XM_006720843.4:c.1018C>T (CCDC78) XP_006720906.1:p.Pro340Ser
XM_011522358.2:c.1465C>T (CCDC78) XP_011520660.1:p.Pro489Ser
XM_011522371.2:c.577C>T (CCDC78) XP_011520673.1:p.Pro193Ser
XM_017022929.1:c.1465C>T (CCDC78) XP_016878418.1:p.Pro489Ser
XM_017022930.1:c.565C>T (CCDC78) XP_016878419.1:p.Pro189Ser
XM_024450150.1:c.295C>T (CCDC78) XP_024305918.1:p.Pro99Ser
XR_001751835.1:n.1804C>T (CCDC78)
XR_001751836.1:n.1783C>T (CCDC78)
XR_001751837.1:n.1561C>T (CCDC78)
XR_001751838.1:n.1907C>T (CCDC78)
XR_001751839.1:n.1369C>T (CCDC78)
NM_001031737.3:c.1018C>T (CCDC78) NP_001026907.2:p.Pro340Ser
NM_001378030.1:c.1018C>T (CCDC78) MANE Select NP_001364959.1:p.Pro340Ser
NM_001378031.1:c.953+181C>T (CCDC78) NP_001364960.1:n.953+181C>T
NM_001378033.1:c.451C>T (CCDC78) NP_001364962.1:p.Pro151Ser
NR_165382.1:n.1575C>T (CCDC78)
NR_165383.1:n.1221C>T (CCDC78)
NR_165384.1:n.1186C>T (CCDC78)
NR_165385.1:n.1286C>T (CCDC78)
NR_165386.1:n.1353C>T (CCDC78)