Canonical Allele Identifier: CA7789114
Community Standard Title: NM_001378030.1(CCDC78):c.1220G>C (p.Arg407Pro)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723003C>G , CM000678.2:g.723003C>G GRCh38
NC_000016.9:g.773003C>G , CM000678.1:g.773003C>G GRCh37
NC_000016.8:g.713004C>G NCBI36
NG_032932.1:g.8471G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378030.1:c.1220G>C (CCDC78) MANE Select NP_001364959.1:p.Arg407Pro
ENST00000345165.10:c.1220G>C (CCDC78) MANE Select ENSP00000316851.5:p.Arg407Pro
NM_001031737.2:c.1216G>C (CCDC78) NP_001026907.2:p.Gly406Arg
NM_001031737.3:c.1216G>C (CCDC78) NP_001026907.2:p.Gly406Arg
NM_001378031.1:c.1040G>C (CCDC78) NP_001364960.1:p.Arg347Pro
NM_001378033.1:c.653G>C (CCDC78) NP_001364962.1:p.Arg218Pro
NR_165382.1:n.1849G>C (CCDC78)
NR_165383.1:n.1423G>C (CCDC78)
NR_165384.1:n.1388G>C (CCDC78)
NR_165385.1:n.1488G>C (CCDC78)
NR_165386.1:n.1555G>C (CCDC78)
ENST00000293889.10:c.1216G>C (CCDC78) ENSP00000293889.6:p.Gly406Arg
ENST00000345165.8:c.766G>C (CCDC78)
ENST00000463539.5:n.1542G>C (CCDC78)
ENST00000466708.5:n.1564G>C (CCDC78)
ENST00000478979.5:n.2634G>C (CCDC78)
ENST00000481804.5:n.2965G>C (CCDC78)
ENST00000482152.1:n.653G>C (CCDC78)
ENST00000482878.5:n.3037G>C (CCDC78)
ENST00000485091.5:n.1445G>C (CCDC78)
ENST00000620831.4:c.-49-39629C>G (MSLN) ENSP00000482893.1:n.-49-39629C>G
ENST00000682391.1:n.1788G>C (CCDC78)
XM_006720838.1:c.1514G>C (CCDC78) XP_006720901.1:p.Arg505Pro
XM_006720843.2:c.1292G>C (CCDC78) XP_006720906.1:p.Arg431Pro
XM_006720843.4:c.1292G>C (CCDC78) XP_006720906.1:p.Arg431Pro
XM_011522356.1:c.1739G>C (CCDC78) XP_011520658.1:p.Arg580Pro
XM_011522357.1:c.1727G>C (CCDC78) XP_011520659.1:p.Arg576Pro
XM_011522358.1:c.1739G>C (CCDC78) XP_011520660.1:p.Arg580Pro
XM_011522358.2:c.1739G>C (CCDC78) XP_011520660.1:p.Arg580Pro
XM_011522359.1:c.1706G>C (CCDC78) XP_011520661.1:p.Arg569Pro
XM_011522360.1:c.1694G>C (CCDC78) XP_011520662.1:p.Arg565Pro
XM_011522361.1:c.1667G>C (CCDC78) XP_011520663.1:p.Arg556Pro
XM_011522362.1:c.1663G>C (CCDC78) XP_011520664.1:p.Gly555Arg
XM_011522363.1:c.1663G>C (CCDC78) XP_011520665.1:p.Gly555Arg
XM_011522364.1:c.1663G>C (CCDC78) XP_011520666.1:p.Gly555Arg
XM_011522365.1:c.1526G>C (CCDC78) XP_011520667.1:p.Arg509Pro
XM_011522366.1:c.1517G>C (CCDC78) XP_011520668.1:p.Arg506Pro
XM_011522367.1:c.1358G>C (CCDC78) XP_011520669.1:p.Arg453Pro
XM_011522368.1:c.1346G>C (CCDC78) XP_011520670.1:p.Arg449Pro
XM_011522369.1:c.1304G>C (CCDC78) XP_011520671.1:p.Arg435Pro
XM_011522370.1:c.1136G>C (CCDC78) XP_011520672.1:p.Arg379Pro
XM_011522371.1:c.851G>C (CCDC78) XP_011520673.1:p.Arg284Pro
XM_011522371.2:c.851G>C (CCDC78) XP_011520673.1:p.Arg284Pro
XM_017022929.1:c.1667G>C (CCDC78) XP_016878418.1:p.Arg556Pro
XM_017022930.1:c.839G>C (CCDC78) XP_016878419.1:p.Arg280Pro
XM_017022931.1:c.662G>C (CCDC78) XP_016878420.1:p.Arg221Pro
XM_024450150.1:c.497G>C (CCDC78) XP_024305918.1:p.Arg166Pro
XR_001751835.1:n.2006G>C (CCDC78)
XR_001751836.1:n.1985G>C (CCDC78)
XR_001751837.1:n.1763G>C (CCDC78)
XR_001751838.1:n.2109G>C (CCDC78)
XR_001751839.1:n.1571G>C (CCDC78)