Canonical Allele Identifier: CA7789056
Community Standard Title: NM_001378030.1(CCDC78):c.1311C>G (p.His437Gln)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.722780G>C , CM000678.2:g.722780G>C GRCh38
NC_000016.9:g.772780G>C , CM000678.1:g.772780G>C GRCh37
NC_000016.8:g.712781G>C NCBI36
NG_032932.1:g.8694C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001378030.1:c.1311C>G (CCDC78) MANE Select NP_001364959.1:p.His437Gln
ENST00000345165.10:c.1311C>G (CCDC78) MANE Select ENSP00000316851.5:p.His437Gln
NM_001031737.2:c.1307C>G (CCDC78) NP_001026907.2:p.Thr436Arg
NM_001031737.3:c.1307C>G (CCDC78) NP_001026907.2:p.Thr436Arg
NM_001378031.1:c.1131C>G (CCDC78) NP_001364960.1:p.His377Gln
NM_001378033.1:c.744C>G (CCDC78) NP_001364962.1:p.His248Gln
NR_165382.1:n.1940C>G (CCDC78)
NR_165383.1:n.1514C>G (CCDC78)
NR_165384.1:n.1479C>G (CCDC78)
NR_165385.1:n.1579C>G (CCDC78)
NR_165386.1:n.1646C>G (CCDC78)
ENST00000293889.10:c.1307C>G (CCDC78) ENSP00000293889.6:p.Thr436Arg
ENST00000345165.8:c.857C>G (CCDC78)
ENST00000463539.5:n.1633C>G (CCDC78)
ENST00000466708.5:n.1655C>G (CCDC78)
ENST00000478979.5:n.2857C>G (CCDC78)
ENST00000481804.5:n.3056C>G (CCDC78)
ENST00000482152.1:n.744C>G (CCDC78)
ENST00000482878.5:n.3260C>G (CCDC78)
ENST00000485091.5:n.1536C>G (CCDC78)
ENST00000620831.4:c.-49-39852G>C (MSLN) ENSP00000482893.1:n.-49-39852G>C
ENST00000682391.1:n.1879C>G (CCDC78)
XM_006720838.1:c.1605C>G (CCDC78) XP_006720901.1:p.His535Gln
XM_006720843.2:c.1383C>G (CCDC78) XP_006720906.1:p.His461Gln
XM_006720843.4:c.1383C>G (CCDC78) XP_006720906.1:p.His461Gln
XM_011522356.1:c.1830C>G (CCDC78) XP_011520658.1:p.His610Gln
XM_011522357.1:c.1818C>G (CCDC78) XP_011520659.1:p.His606Gln
XM_011522358.1:c.1806C>G (CCDC78) XP_011520660.1:p.His602Gln
XM_011522358.2:c.1806C>G (CCDC78) XP_011520660.1:p.His602Gln
XM_011522359.1:c.1797C>G (CCDC78) XP_011520661.1:p.His599Gln
XM_011522360.1:c.1785C>G (CCDC78) XP_011520662.1:p.His595Gln
XM_011522361.1:c.1758C>G (CCDC78) XP_011520663.1:p.His586Gln
XM_011522362.1:c.*83C>G (CCDC78) XP_011520664.1:n.*83C>G
XM_011522363.1:c.1754C>G (CCDC78) XP_011520665.1:p.Thr585Arg
XM_011522364.1:c.1730C>G (CCDC78) XP_011520666.1:p.Thr577Arg
XM_011522365.1:c.1617C>G (CCDC78) XP_011520667.1:p.His539Gln
XM_011522366.1:c.1608C>G (CCDC78) XP_011520668.1:p.His536Gln
XM_011522367.1:c.1449C>G (CCDC78) XP_011520669.1:p.His483Gln
XM_011522368.1:c.1437C>G (CCDC78) XP_011520670.1:p.His479Gln
XM_011522369.1:c.1395C>G (CCDC78) XP_011520671.1:p.His465Gln
XM_011522370.1:c.1227C>G (CCDC78) XP_011520672.1:p.His409Gln
XM_011522371.1:c.942C>G (CCDC78) XP_011520673.1:p.His314Gln
XM_011522371.2:c.942C>G (CCDC78) XP_011520673.1:p.His314Gln
XM_017022929.1:c.1734C>G (CCDC78) XP_016878418.1:p.His578Gln
XM_017022930.1:c.930C>G (CCDC78) XP_016878419.1:p.His310Gln
XM_017022931.1:c.753C>G (CCDC78) XP_016878420.1:p.His251Gln
XM_024450150.1:c.588C>G (CCDC78) XP_024305918.1:p.His196Gln
XR_001751835.1:n.2097C>G (CCDC78)
XR_001751836.1:n.2076C>G (CCDC78)
XR_001751837.1:n.1854C>G (CCDC78)
XR_001751838.1:n.2200C>G (CCDC78)
XR_001751839.1:n.1662C>G (CCDC78)