Canonical Allele Identifier: CA7789301

Linked Data

dbSNP Id: rs142170929
gnomAD v2: 16-774116-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724116C>G , CM000678.2:g.724116C>G GRCh38
NC_000016.9:g.774116C>G , CM000678.1:g.774116C>G GRCh37
NC_000016.8:g.714117C>G NCBI36
NG_032932.1:g.7358G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1586G>C (CCDC78)
ENST00000345165.10:c.1043G>C (CCDC78) MANE Select ENSP00000316851.5:p.Arg348Pro
ENST00000293889.10:c.1043G>C (CCDC78) ENSP00000293889.6:p.Arg348Pro
ENST00000345165.8:c.589G>C (CCDC78)
ENST00000463539.5:n.1365G>C (CCDC78)
ENST00000466708.5:n.1387G>C (CCDC78)
ENST00000478979.5:n.1521G>C (CCDC78)
ENST00000481804.5:n.2021G>C (CCDC78)
ENST00000482152.1:n.404G>C (CCDC78)
ENST00000482878.5:n.1924G>C (CCDC78)
ENST00000485091.5:n.1196G>C (CCDC78)
ENST00000620831.4:c.-49-38516C>G (MSLN) ENSP00000482893.1:n.-49-38516C>G
NM_001031737.2:c.1043G>C (CCDC78) NP_001026907.2:p.Arg348Pro
XM_006720838.1:c.1265G>C (CCDC78) XP_006720901.1:p.Arg422Pro
XM_006720843.2:c.1043G>C (CCDC78) XP_006720906.1:p.Arg348Pro
XM_011522356.1:c.1490G>C (CCDC78) XP_011520658.1:p.Arg497Pro
XM_011522357.1:c.1478G>C (CCDC78) XP_011520659.1:p.Arg493Pro
XM_011522358.1:c.1490G>C (CCDC78) XP_011520660.1:p.Arg497Pro
XM_011522359.1:c.1457G>C (CCDC78) XP_011520661.1:p.Arg486Pro
XM_011522360.1:c.1445G>C (CCDC78) XP_011520662.1:p.Arg482Pro
XM_011522361.1:c.1490G>C (CCDC78) XP_011520663.1:p.Arg497Pro
XM_011522362.1:c.1490G>C (CCDC78) XP_011520664.1:p.Arg497Pro
XM_011522363.1:c.1490G>C (CCDC78) XP_011520665.1:p.Arg497Pro
XM_011522364.1:c.1490G>C (CCDC78) XP_011520666.1:p.Arg497Pro
XM_011522365.1:c.1277G>C (CCDC78) XP_011520667.1:p.Arg426Pro
XM_011522366.1:c.1268G>C (CCDC78) XP_011520668.1:p.Arg423Pro
XM_011522367.1:c.1109G>C (CCDC78) XP_011520669.1:p.Arg370Pro
XM_011522368.1:c.1097G>C (CCDC78) XP_011520670.1:p.Arg366Pro
XM_011522369.1:c.1055G>C (CCDC78) XP_011520671.1:p.Arg352Pro
XM_011522370.1:c.887G>C (CCDC78) XP_011520672.1:p.Arg296Pro
XM_011522371.1:c.602G>C (CCDC78) XP_011520673.1:p.Arg201Pro
XM_006720843.4:c.1043G>C (CCDC78) XP_006720906.1:p.Arg348Pro
XM_011522358.2:c.1490G>C (CCDC78) XP_011520660.1:p.Arg497Pro
XM_011522371.2:c.602G>C (CCDC78) XP_011520673.1:p.Arg201Pro
XM_017022929.1:c.1490G>C (CCDC78) XP_016878418.1:p.Arg497Pro
XM_017022930.1:c.590G>C (CCDC78) XP_016878419.1:p.Arg197Pro
XM_024450150.1:c.320G>C (CCDC78) XP_024305918.1:p.Arg107Pro
XR_001751835.1:n.1829G>C (CCDC78)
XR_001751836.1:n.1808G>C (CCDC78)
XR_001751837.1:n.1586G>C (CCDC78)
XR_001751838.1:n.1932G>C (CCDC78)
XR_001751839.1:n.1394G>C (CCDC78)
NM_001031737.3:c.1043G>C (CCDC78) NP_001026907.2:p.Arg348Pro
NM_001378030.1:c.1043G>C (CCDC78) MANE Select NP_001364959.1:p.Arg348Pro
NM_001378031.1:c.953+206G>C (CCDC78) NP_001364960.1:n.953+206G>C
NM_001378033.1:c.476G>C (CCDC78) NP_001364962.1:p.Arg159Pro
NR_165382.1:n.1600G>C (CCDC78)
NR_165383.1:n.1246G>C (CCDC78)
NR_165384.1:n.1211G>C (CCDC78)
NR_165385.1:n.1311G>C (CCDC78)
NR_165386.1:n.1378G>C (CCDC78)