Canonical Allele Identifier: CA394098370

Linked Data

gnomAD v4: 16-723882-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723882A>G , CM000678.2:g.723882A>G GRCh38
NC_000016.9:g.773882A>G , CM000678.1:g.773882A>G GRCh37
NC_000016.8:g.713883A>G NCBI36
NG_032932.1:g.7592T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1651T>C (CCDC78)
ENST00000345165.10:c.1108T>C (CCDC78) MANE Select ENSP00000316851.5:p.Ser370Pro
ENST00000293889.10:c.1108T>C (CCDC78) ENSP00000293889.6:p.Ser370Pro
ENST00000345165.8:c.654T>C (CCDC78)
ENST00000463539.5:n.1430T>C (CCDC78)
ENST00000466708.5:n.1452T>C (CCDC78)
ENST00000478979.5:n.1755T>C (CCDC78)
ENST00000481804.5:n.2086T>C (CCDC78)
ENST00000482152.1:n.469T>C (CCDC78)
ENST00000482878.5:n.2158T>C (CCDC78)
ENST00000485091.5:n.1261T>C (CCDC78)
ENST00000620831.4:c.-49-38750A>G (MSLN) ENSP00000482893.1:n.-49-38750A>G
NM_001031737.2:c.1108T>C (CCDC78) NP_001026907.2:p.Ser370Pro
XM_006720838.1:c.1330T>C (CCDC78) XP_006720901.1:p.Ser444Pro
XM_006720843.2:c.1108T>C (CCDC78) XP_006720906.1:p.Ser370Pro
XM_011522356.1:c.1555T>C (CCDC78) XP_011520658.1:p.Ser519Pro
XM_011522357.1:c.1543T>C (CCDC78) XP_011520659.1:p.Ser515Pro
XM_011522358.1:c.1555T>C (CCDC78) XP_011520660.1:p.Ser519Pro
XM_011522359.1:c.1522T>C (CCDC78) XP_011520661.1:p.Ser508Pro
XM_011522360.1:c.1510T>C (CCDC78) XP_011520662.1:p.Ser504Pro
XM_011522361.1:c.1555T>C (CCDC78) XP_011520663.1:p.Ser519Pro
XM_011522362.1:c.1555T>C (CCDC78) XP_011520664.1:p.Ser519Pro
XM_011522363.1:c.1555T>C (CCDC78) XP_011520665.1:p.Ser519Pro
XM_011522364.1:c.1555T>C (CCDC78) XP_011520666.1:p.Ser519Pro
XM_011522365.1:c.1342T>C (CCDC78) XP_011520667.1:p.Ser448Pro
XM_011522366.1:c.1333T>C (CCDC78) XP_011520668.1:p.Ser445Pro
XM_011522367.1:c.1174T>C (CCDC78) XP_011520669.1:p.Ser392Pro
XM_011522368.1:c.1162T>C (CCDC78) XP_011520670.1:p.Ser388Pro
XM_011522369.1:c.1120T>C (CCDC78) XP_011520671.1:p.Ser374Pro
XM_011522370.1:c.952T>C (CCDC78) XP_011520672.1:p.Ser318Pro
XM_011522371.1:c.667T>C (CCDC78) XP_011520673.1:p.Ser223Pro
XM_006720843.4:c.1108T>C (CCDC78) XP_006720906.1:p.Ser370Pro
XM_011522358.2:c.1555T>C (CCDC78) XP_011520660.1:p.Ser519Pro
XM_011522371.2:c.667T>C (CCDC78) XP_011520673.1:p.Ser223Pro
XM_017022929.1:c.1555T>C (CCDC78) XP_016878418.1:p.Ser519Pro
XM_017022930.1:c.655T>C (CCDC78) XP_016878419.1:p.Ser219Pro
XM_017022931.1:c.-146T>C (CCDC78) XP_016878420.1:n.-146T>C
XM_024450150.1:c.385T>C (CCDC78) XP_024305918.1:p.Ser129Pro
XR_001751835.1:n.1894T>C (CCDC78)
XR_001751836.1:n.1873T>C (CCDC78)
XR_001751837.1:n.1651T>C (CCDC78)
XR_001751838.1:n.1997T>C (CCDC78)
XR_001751839.1:n.1459T>C (CCDC78)
NM_001031737.3:c.1108T>C (CCDC78) NP_001026907.2:p.Ser370Pro
NM_001378030.1:c.1108T>C (CCDC78) MANE Select NP_001364959.1:p.Ser370Pro
NM_001378031.1:c.953+440T>C (CCDC78) NP_001364960.1:n.953+440T>C
NM_001378033.1:c.541T>C (CCDC78) NP_001364962.1:p.Ser181Pro
NR_165382.1:n.1665T>C (CCDC78)
NR_165383.1:n.1311T>C (CCDC78)
NR_165384.1:n.1276T>C (CCDC78)
NR_165385.1:n.1376T>C (CCDC78)
NR_165386.1:n.1443T>C (CCDC78)