Canonical Allele Identifier: CA723497888

Linked Data

dbSNP Id: rs1392426851
gnomAD v3: 16-724035-G-A
gnomAD v4: 16-724035-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724035G>A , CM000678.2:g.724035G>A GRCh38
NC_000016.9:g.774035G>A , CM000678.1:g.774035G>A GRCh37
NC_000016.8:g.714036G>A NCBI36
NG_032932.1:g.7439C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1596+71C>T (CCDC78)
ENST00000345165.10:c.1053+71C>T (CCDC78) MANE Select ENSP00000316851.5:n.1053+71C>T
ENST00000293889.10:c.1053+71C>T (CCDC78) ENSP00000293889.6:n.1053+71C>T
ENST00000345165.8:c.599+71C>T (CCDC78)
ENST00000463539.5:n.1375+71C>T (CCDC78)
ENST00000466708.5:n.1397+71C>T (CCDC78)
ENST00000478979.5:n.1602C>T (CCDC78)
ENST00000481804.5:n.2031+71C>T (CCDC78)
ENST00000482152.1:n.414+71C>T (CCDC78)
ENST00000482878.5:n.2005C>T (CCDC78)
ENST00000485091.5:n.1206+71C>T (CCDC78)
ENST00000620831.4:c.-49-38597G>A (MSLN) ENSP00000482893.1:n.-49-38597G>A
NM_001031737.2:c.1053+71C>T (CCDC78) NP_001026907.2:n.1053+71C>T
XM_006720838.1:c.1275+71C>T (CCDC78) XP_006720901.1:n.1275+71C>T
XM_006720843.2:c.1053+71C>T (CCDC78) XP_006720906.1:n.1053+71C>T
XM_011522356.1:c.1500+71C>T (CCDC78) XP_011520658.1:n.1500+71C>T
XM_011522357.1:c.1488+71C>T (CCDC78) XP_011520659.1:n.1488+71C>T
XM_011522358.1:c.1500+71C>T (CCDC78) XP_011520660.1:n.1500+71C>T
XM_011522359.1:c.1467+71C>T (CCDC78) XP_011520661.1:n.1467+71C>T
XM_011522360.1:c.1455+71C>T (CCDC78) XP_011520662.1:n.1455+71C>T
XM_011522361.1:c.1500+71C>T (CCDC78) XP_011520663.1:n.1500+71C>T
XM_011522362.1:c.1500+71C>T (CCDC78) XP_011520664.1:n.1500+71C>T
XM_011522363.1:c.1500+71C>T (CCDC78) XP_011520665.1:n.1500+71C>T
XM_011522364.1:c.1500+71C>T (CCDC78) XP_011520666.1:n.1500+71C>T
XM_011522365.1:c.1287+71C>T (CCDC78) XP_011520667.1:n.1287+71C>T
XM_011522366.1:c.1278+71C>T (CCDC78) XP_011520668.1:n.1278+71C>T
XM_011522367.1:c.1119+71C>T (CCDC78) XP_011520669.1:n.1119+71C>T
XM_011522368.1:c.1107+71C>T (CCDC78) XP_011520670.1:n.1107+71C>T
XM_011522369.1:c.1065+71C>T (CCDC78) XP_011520671.1:n.1065+71C>T
XM_011522370.1:c.897+71C>T (CCDC78) XP_011520672.1:n.897+71C>T
XM_011522371.1:c.612+71C>T (CCDC78) XP_011520673.1:n.612+71C>T
XM_006720843.4:c.1053+71C>T (CCDC78) XP_006720906.1:n.1053+71C>T
XM_011522358.2:c.1500+71C>T (CCDC78) XP_011520660.1:n.1500+71C>T
XM_011522371.2:c.612+71C>T (CCDC78) XP_011520673.1:n.612+71C>T
XM_017022929.1:c.1500+71C>T (CCDC78) XP_016878418.1:n.1500+71C>T
XM_017022930.1:c.600+71C>T (CCDC78) XP_016878419.1:n.600+71C>T
XM_017022931.1:c.-299C>T (CCDC78) XP_016878420.1:n.-299C>T
XM_024450150.1:c.330+71C>T (CCDC78) XP_024305918.1:n.330+71C>T
XR_001751835.1:n.1839+71C>T (CCDC78)
XR_001751836.1:n.1818+71C>T (CCDC78)
XR_001751837.1:n.1596+71C>T (CCDC78)
XR_001751838.1:n.1942+71C>T (CCDC78)
XR_001751839.1:n.1404+71C>T (CCDC78)
NM_001031737.3:c.1053+71C>T (CCDC78) NP_001026907.2:n.1053+71C>T
NM_001378030.1:c.1053+71C>T (CCDC78) MANE Select NP_001364959.1:n.1053+71C>T
NM_001378031.1:c.953+287C>T (CCDC78) NP_001364960.1:n.953+287C>T
NM_001378033.1:c.486+71C>T (CCDC78) NP_001364962.1:n.486+71C>T
NR_165382.1:n.1610+71C>T (CCDC78)
NR_165383.1:n.1256+71C>T (CCDC78)
NR_165384.1:n.1221+71C>T (CCDC78)
NR_165385.1:n.1321+71C>T (CCDC78)
NR_165386.1:n.1388+71C>T (CCDC78)