Canonical Allele Identifier: CA394098452

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723914A>C , CM000678.2:g.723914A>C GRCh38
NC_000016.9:g.773914A>C , CM000678.1:g.773914A>C GRCh37
NC_000016.8:g.713915A>C NCBI36
NG_032932.1:g.7560T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1619T>G (CCDC78)
ENST00000345165.10:c.1076T>G (CCDC78) MANE Select ENSP00000316851.5:p.Leu359Arg
ENST00000293889.10:c.1076T>G (CCDC78) ENSP00000293889.6:p.Leu359Arg
ENST00000345165.8:c.622T>G (CCDC78)
ENST00000463539.5:n.1398T>G (CCDC78)
ENST00000466708.5:n.1420T>G (CCDC78)
ENST00000478979.5:n.1723T>G (CCDC78)
ENST00000481804.5:n.2054T>G (CCDC78)
ENST00000482152.1:n.437T>G (CCDC78)
ENST00000482878.5:n.2126T>G (CCDC78)
ENST00000485091.5:n.1229T>G (CCDC78)
ENST00000620831.4:c.-49-38718A>C (MSLN) ENSP00000482893.1:n.-49-38718A>C
NM_001031737.2:c.1076T>G (CCDC78) NP_001026907.2:p.Leu359Arg
XM_006720838.1:c.1298T>G (CCDC78) XP_006720901.1:p.Leu433Arg
XM_006720843.2:c.1076T>G (CCDC78) XP_006720906.1:p.Leu359Arg
XM_011522356.1:c.1523T>G (CCDC78) XP_011520658.1:p.Leu508Arg
XM_011522357.1:c.1511T>G (CCDC78) XP_011520659.1:p.Leu504Arg
XM_011522358.1:c.1523T>G (CCDC78) XP_011520660.1:p.Leu508Arg
XM_011522359.1:c.1490T>G (CCDC78) XP_011520661.1:p.Leu497Arg
XM_011522360.1:c.1478T>G (CCDC78) XP_011520662.1:p.Leu493Arg
XM_011522361.1:c.1523T>G (CCDC78) XP_011520663.1:p.Leu508Arg
XM_011522362.1:c.1523T>G (CCDC78) XP_011520664.1:p.Leu508Arg
XM_011522363.1:c.1523T>G (CCDC78) XP_011520665.1:p.Leu508Arg
XM_011522364.1:c.1523T>G (CCDC78) XP_011520666.1:p.Leu508Arg
XM_011522365.1:c.1310T>G (CCDC78) XP_011520667.1:p.Leu437Arg
XM_011522366.1:c.1301T>G (CCDC78) XP_011520668.1:p.Leu434Arg
XM_011522367.1:c.1142T>G (CCDC78) XP_011520669.1:p.Leu381Arg
XM_011522368.1:c.1130T>G (CCDC78) XP_011520670.1:p.Leu377Arg
XM_011522369.1:c.1088T>G (CCDC78) XP_011520671.1:p.Leu363Arg
XM_011522370.1:c.920T>G (CCDC78) XP_011520672.1:p.Leu307Arg
XM_011522371.1:c.635T>G (CCDC78) XP_011520673.1:p.Leu212Arg
XM_006720843.4:c.1076T>G (CCDC78) XP_006720906.1:p.Leu359Arg
XM_011522358.2:c.1523T>G (CCDC78) XP_011520660.1:p.Leu508Arg
XM_011522371.2:c.635T>G (CCDC78) XP_011520673.1:p.Leu212Arg
XM_017022929.1:c.1523T>G (CCDC78) XP_016878418.1:p.Leu508Arg
XM_017022930.1:c.623T>G (CCDC78) XP_016878419.1:p.Leu208Arg
XM_017022931.1:c.-178T>G (CCDC78) XP_016878420.1:n.-178T>G
XM_024450150.1:c.353T>G (CCDC78) XP_024305918.1:p.Leu118Arg
XR_001751835.1:n.1862T>G (CCDC78)
XR_001751836.1:n.1841T>G (CCDC78)
XR_001751837.1:n.1619T>G (CCDC78)
XR_001751838.1:n.1965T>G (CCDC78)
XR_001751839.1:n.1427T>G (CCDC78)
NM_001031737.3:c.1076T>G (CCDC78) NP_001026907.2:p.Leu359Arg
NM_001378030.1:c.1076T>G (CCDC78) MANE Select NP_001364959.1:p.Leu359Arg
NM_001378031.1:c.953+408T>G (CCDC78) NP_001364960.1:n.953+408T>G
NM_001378033.1:c.509T>G (CCDC78) NP_001364962.1:p.Leu170Arg
NR_165382.1:n.1633T>G (CCDC78)
NR_165383.1:n.1279T>G (CCDC78)
NR_165384.1:n.1244T>G (CCDC78)
NR_165385.1:n.1344T>G (CCDC78)
NR_165386.1:n.1411T>G (CCDC78)