Canonical Allele Identifier: CA276519712

Linked Data

ClinVar Variation Id: 1445500
ClinVar RCV Id: RCV001992613
dbSNP Id: rs767325446
gnomAD v2: 16-773920-G-A
gnomAD v4: 16-723920-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723920G>A , CM000678.2:g.723920G>A GRCh38
NC_000016.9:g.773920G>A , CM000678.1:g.773920G>A GRCh37
NC_000016.8:g.713921G>A NCBI36
NG_032932.1:g.7554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1613C>T (CCDC78)
ENST00000345165.10:c.1070C>T (CCDC78) MANE Select ENSP00000316851.5:p.Ala357Val
ENST00000293889.10:c.1070C>T (CCDC78) ENSP00000293889.6:p.Ala357Val
ENST00000345165.8:c.616C>T (CCDC78)
ENST00000463539.5:n.1392C>T (CCDC78)
ENST00000466708.5:n.1414C>T (CCDC78)
ENST00000478979.5:n.1717C>T (CCDC78)
ENST00000481804.5:n.2048C>T (CCDC78)
ENST00000482152.1:n.431C>T (CCDC78)
ENST00000482878.5:n.2120C>T (CCDC78)
ENST00000485091.5:n.1223C>T (CCDC78)
ENST00000620831.4:c.-49-38712G>A (MSLN) ENSP00000482893.1:n.-49-38712G>A
NM_001031737.2:c.1070C>T (CCDC78) NP_001026907.2:p.Ala357Val
XM_006720838.1:c.1292C>T (CCDC78) XP_006720901.1:p.Ala431Val
XM_006720843.2:c.1070C>T (CCDC78) XP_006720906.1:p.Ala357Val
XM_011522356.1:c.1517C>T (CCDC78) XP_011520658.1:p.Ala506Val
XM_011522357.1:c.1505C>T (CCDC78) XP_011520659.1:p.Ala502Val
XM_011522358.1:c.1517C>T (CCDC78) XP_011520660.1:p.Ala506Val
XM_011522359.1:c.1484C>T (CCDC78) XP_011520661.1:p.Ala495Val
XM_011522360.1:c.1472C>T (CCDC78) XP_011520662.1:p.Ala491Val
XM_011522361.1:c.1517C>T (CCDC78) XP_011520663.1:p.Ala506Val
XM_011522362.1:c.1517C>T (CCDC78) XP_011520664.1:p.Ala506Val
XM_011522363.1:c.1517C>T (CCDC78) XP_011520665.1:p.Ala506Val
XM_011522364.1:c.1517C>T (CCDC78) XP_011520666.1:p.Ala506Val
XM_011522365.1:c.1304C>T (CCDC78) XP_011520667.1:p.Ala435Val
XM_011522366.1:c.1295C>T (CCDC78) XP_011520668.1:p.Ala432Val
XM_011522367.1:c.1136C>T (CCDC78) XP_011520669.1:p.Ala379Val
XM_011522368.1:c.1124C>T (CCDC78) XP_011520670.1:p.Ala375Val
XM_011522369.1:c.1082C>T (CCDC78) XP_011520671.1:p.Ala361Val
XM_011522370.1:c.914C>T (CCDC78) XP_011520672.1:p.Ala305Val
XM_011522371.1:c.629C>T (CCDC78) XP_011520673.1:p.Ala210Val
XM_006720843.4:c.1070C>T (CCDC78) XP_006720906.1:p.Ala357Val
XM_011522358.2:c.1517C>T (CCDC78) XP_011520660.1:p.Ala506Val
XM_011522371.2:c.629C>T (CCDC78) XP_011520673.1:p.Ala210Val
XM_017022929.1:c.1517C>T (CCDC78) XP_016878418.1:p.Ala506Val
XM_017022930.1:c.617C>T (CCDC78) XP_016878419.1:p.Ala206Val
XM_017022931.1:c.-184C>T (CCDC78) XP_016878420.1:n.-184C>T
XM_024450150.1:c.347C>T (CCDC78) XP_024305918.1:p.Ala116Val
XR_001751835.1:n.1856C>T (CCDC78)
XR_001751836.1:n.1835C>T (CCDC78)
XR_001751837.1:n.1613C>T (CCDC78)
XR_001751838.1:n.1959C>T (CCDC78)
XR_001751839.1:n.1421C>T (CCDC78)
NM_001031737.3:c.1070C>T (CCDC78) NP_001026907.2:p.Ala357Val
NM_001378030.1:c.1070C>T (CCDC78) MANE Select NP_001364959.1:p.Ala357Val
NM_001378031.1:c.953+402C>T (CCDC78) NP_001364960.1:n.953+402C>T
NM_001378033.1:c.503C>T (CCDC78) NP_001364962.1:p.Ala168Val
NR_165382.1:n.1627C>T (CCDC78)
NR_165383.1:n.1273C>T (CCDC78)
NR_165384.1:n.1238C>T (CCDC78)
NR_165385.1:n.1338C>T (CCDC78)
NR_165386.1:n.1405C>T (CCDC78)