Canonical Allele Identifier: CA492830087

Linked Data

gnomAD v4: 16-724109-G-A
MyVariant Identifiers: chr16:g.774109G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724109G>A , CM000678.2:g.724109G>A GRCh38
NC_000016.9:g.774109G>A , CM000678.1:g.774109G>A GRCh37
NC_000016.8:g.714110G>A NCBI36
NG_032932.1:g.7365C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1593C>T (CCDC78)
ENST00000345165.10:c.1050C>T (CCDC78) MANE Select ENSP00000316851.5:p.Asp350=
ENST00000293889.10:c.1050C>T (CCDC78) ENSP00000293889.6:p.Asp350=
ENST00000345165.8:c.596C>T (CCDC78)
ENST00000463539.5:n.1372C>T (CCDC78)
ENST00000466708.5:n.1394C>T (CCDC78)
ENST00000478979.5:n.1528C>T (CCDC78)
ENST00000481804.5:n.2028C>T (CCDC78)
ENST00000482152.1:n.411C>T (CCDC78)
ENST00000482878.5:n.1931C>T (CCDC78)
ENST00000485091.5:n.1203C>T (CCDC78)
ENST00000620831.4:c.-49-38523G>A (MSLN) ENSP00000482893.1:n.-49-38523G>A
NM_001031737.2:c.1050C>T (CCDC78) NP_001026907.2:p.Asp350=
XM_006720838.1:c.1272C>T (CCDC78) XP_006720901.1:p.Asp424=
XM_006720843.2:c.1050C>T (CCDC78) XP_006720906.1:p.Asp350=
XM_011522356.1:c.1497C>T (CCDC78) XP_011520658.1:p.Asp499=
XM_011522357.1:c.1485C>T (CCDC78) XP_011520659.1:p.Asp495=
XM_011522358.1:c.1497C>T (CCDC78) XP_011520660.1:p.Asp499=
XM_011522359.1:c.1464C>T (CCDC78) XP_011520661.1:p.Asp488=
XM_011522360.1:c.1452C>T (CCDC78) XP_011520662.1:p.Asp484=
XM_011522361.1:c.1497C>T (CCDC78) XP_011520663.1:p.Asp499=
XM_011522362.1:c.1497C>T (CCDC78) XP_011520664.1:p.Asp499=
XM_011522363.1:c.1497C>T (CCDC78) XP_011520665.1:p.Asp499=
XM_011522364.1:c.1497C>T (CCDC78) XP_011520666.1:p.Asp499=
XM_011522365.1:c.1284C>T (CCDC78) XP_011520667.1:p.Asp428=
XM_011522366.1:c.1275C>T (CCDC78) XP_011520668.1:p.Asp425=
XM_011522367.1:c.1116C>T (CCDC78) XP_011520669.1:p.Asp372=
XM_011522368.1:c.1104C>T (CCDC78) XP_011520670.1:p.Asp368=
XM_011522369.1:c.1062C>T (CCDC78) XP_011520671.1:p.Asp354=
XM_011522370.1:c.894C>T (CCDC78) XP_011520672.1:p.Asp298=
XM_011522371.1:c.609C>T (CCDC78) XP_011520673.1:p.Asp203=
XM_006720843.4:c.1050C>T (CCDC78) XP_006720906.1:p.Asp350=
XM_011522358.2:c.1497C>T (CCDC78) XP_011520660.1:p.Asp499=
XM_011522371.2:c.609C>T (CCDC78) XP_011520673.1:p.Asp203=
XM_017022929.1:c.1497C>T (CCDC78) XP_016878418.1:p.Asp499=
XM_017022930.1:c.597C>T (CCDC78) XP_016878419.1:p.Asp199=
XM_024450150.1:c.327C>T (CCDC78) XP_024305918.1:p.Asp109=
XR_001751835.1:n.1836C>T (CCDC78)
XR_001751836.1:n.1815C>T (CCDC78)
XR_001751837.1:n.1593C>T (CCDC78)
XR_001751838.1:n.1939C>T (CCDC78)
XR_001751839.1:n.1401C>T (CCDC78)
NM_001031737.3:c.1050C>T (CCDC78) NP_001026907.2:p.Asp350=
NM_001378030.1:c.1050C>T (CCDC78) MANE Select NP_001364959.1:p.Asp350=
NM_001378031.1:c.953+213C>T (CCDC78) NP_001364960.1:n.953+213C>T
NM_001378033.1:c.483C>T (CCDC78) NP_001364962.1:p.Asp161=
NR_165382.1:n.1607C>T (CCDC78)
NR_165383.1:n.1253C>T (CCDC78)
NR_165384.1:n.1218C>T (CCDC78)
NR_165385.1:n.1318C>T (CCDC78)
NR_165386.1:n.1385C>T (CCDC78)