Canonical Allele Identifier: CA7789262

Linked Data

ClinVar Variation Id: 774569
ClinVar RCV Id: RCV000954567
dbSNP Id: rs763378541
gnomAD v2: 16-773907-G-A
gnomAD v3: 16-723907-G-A
gnomAD v4: 16-723907-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723907G>A , CM000678.2:g.723907G>A GRCh38
NC_000016.9:g.773907G>A , CM000678.1:g.773907G>A GRCh37
NC_000016.8:g.713908G>A NCBI36
NG_032932.1:g.7567C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1626C>T (CCDC78)
ENST00000345165.10:c.1083C>T (CCDC78) MANE Select ENSP00000316851.5:p.Ser361=
ENST00000293889.10:c.1083C>T (CCDC78) ENSP00000293889.6:p.Ser361=
ENST00000345165.8:c.629C>T (CCDC78)
ENST00000463539.5:n.1405C>T (CCDC78)
ENST00000466708.5:n.1427C>T (CCDC78)
ENST00000478979.5:n.1730C>T (CCDC78)
ENST00000481804.5:n.2061C>T (CCDC78)
ENST00000482152.1:n.444C>T (CCDC78)
ENST00000482878.5:n.2133C>T (CCDC78)
ENST00000485091.5:n.1236C>T (CCDC78)
ENST00000620831.4:c.-49-38725G>A (MSLN) ENSP00000482893.1:n.-49-38725G>A
NM_001031737.2:c.1083C>T (CCDC78) NP_001026907.2:p.Ser361=
XM_006720838.1:c.1305C>T (CCDC78) XP_006720901.1:p.Ser435=
XM_006720843.2:c.1083C>T (CCDC78) XP_006720906.1:p.Ser361=
XM_011522356.1:c.1530C>T (CCDC78) XP_011520658.1:p.Ser510=
XM_011522357.1:c.1518C>T (CCDC78) XP_011520659.1:p.Ser506=
XM_011522358.1:c.1530C>T (CCDC78) XP_011520660.1:p.Ser510=
XM_011522359.1:c.1497C>T (CCDC78) XP_011520661.1:p.Ser499=
XM_011522360.1:c.1485C>T (CCDC78) XP_011520662.1:p.Ser495=
XM_011522361.1:c.1530C>T (CCDC78) XP_011520663.1:p.Ser510=
XM_011522362.1:c.1530C>T (CCDC78) XP_011520664.1:p.Ser510=
XM_011522363.1:c.1530C>T (CCDC78) XP_011520665.1:p.Ser510=
XM_011522364.1:c.1530C>T (CCDC78) XP_011520666.1:p.Ser510=
XM_011522365.1:c.1317C>T (CCDC78) XP_011520667.1:p.Ser439=
XM_011522366.1:c.1308C>T (CCDC78) XP_011520668.1:p.Ser436=
XM_011522367.1:c.1149C>T (CCDC78) XP_011520669.1:p.Ser383=
XM_011522368.1:c.1137C>T (CCDC78) XP_011520670.1:p.Ser379=
XM_011522369.1:c.1095C>T (CCDC78) XP_011520671.1:p.Ser365=
XM_011522370.1:c.927C>T (CCDC78) XP_011520672.1:p.Ser309=
XM_011522371.1:c.642C>T (CCDC78) XP_011520673.1:p.Ser214=
XM_006720843.4:c.1083C>T (CCDC78) XP_006720906.1:p.Ser361=
XM_011522358.2:c.1530C>T (CCDC78) XP_011520660.1:p.Ser510=
XM_011522371.2:c.642C>T (CCDC78) XP_011520673.1:p.Ser214=
XM_017022929.1:c.1530C>T (CCDC78) XP_016878418.1:p.Ser510=
XM_017022930.1:c.630C>T (CCDC78) XP_016878419.1:p.Ser210=
XM_017022931.1:c.-171C>T (CCDC78) XP_016878420.1:n.-171C>T
XM_024450150.1:c.360C>T (CCDC78) XP_024305918.1:p.Ser120=
XR_001751835.1:n.1869C>T (CCDC78)
XR_001751836.1:n.1848C>T (CCDC78)
XR_001751837.1:n.1626C>T (CCDC78)
XR_001751838.1:n.1972C>T (CCDC78)
XR_001751839.1:n.1434C>T (CCDC78)
NM_001031737.3:c.1083C>T (CCDC78) NP_001026907.2:p.Ser361=
NM_001378030.1:c.1083C>T (CCDC78) MANE Select NP_001364959.1:p.Ser361=
NM_001378031.1:c.953+415C>T (CCDC78) NP_001364960.1:n.953+415C>T
NM_001378033.1:c.516C>T (CCDC78) NP_001364962.1:p.Ser172=
NR_165382.1:n.1640C>T (CCDC78)
NR_165383.1:n.1286C>T (CCDC78)
NR_165384.1:n.1251C>T (CCDC78)
NR_165385.1:n.1351C>T (CCDC78)
NR_165386.1:n.1418C>T (CCDC78)