Canonical Allele Identifier: CA394098365

Linked Data

gnomAD v4: 16-723879-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723879G>T , CM000678.2:g.723879G>T GRCh38
NC_000016.9:g.773879G>T , CM000678.1:g.773879G>T GRCh37
NC_000016.8:g.713880G>T NCBI36
NG_032932.1:g.7595C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1654C>A (CCDC78)
ENST00000345165.10:c.1111C>A (CCDC78) MANE Select ENSP00000316851.5:p.Gln371Lys
ENST00000293889.10:c.1111C>A (CCDC78) ENSP00000293889.6:p.Gln371Lys
ENST00000345165.8:c.657C>A (CCDC78)
ENST00000463539.5:n.1433C>A (CCDC78)
ENST00000466708.5:n.1455C>A (CCDC78)
ENST00000478979.5:n.1758C>A (CCDC78)
ENST00000481804.5:n.2089C>A (CCDC78)
ENST00000482152.1:n.472C>A (CCDC78)
ENST00000482878.5:n.2161C>A (CCDC78)
ENST00000485091.5:n.1264C>A (CCDC78)
ENST00000620831.4:c.-49-38753G>T (MSLN) ENSP00000482893.1:n.-49-38753G>T
NM_001031737.2:c.1111C>A (CCDC78) NP_001026907.2:p.Gln371Lys
XM_006720838.1:c.1333C>A (CCDC78) XP_006720901.1:p.Gln445Lys
XM_006720843.2:c.1111C>A (CCDC78) XP_006720906.1:p.Gln371Lys
XM_011522356.1:c.1558C>A (CCDC78) XP_011520658.1:p.Gln520Lys
XM_011522357.1:c.1546C>A (CCDC78) XP_011520659.1:p.Gln516Lys
XM_011522358.1:c.1558C>A (CCDC78) XP_011520660.1:p.Gln520Lys
XM_011522359.1:c.1525C>A (CCDC78) XP_011520661.1:p.Gln509Lys
XM_011522360.1:c.1513C>A (CCDC78) XP_011520662.1:p.Gln505Lys
XM_011522361.1:c.1558C>A (CCDC78) XP_011520663.1:p.Gln520Lys
XM_011522362.1:c.1558C>A (CCDC78) XP_011520664.1:p.Gln520Lys
XM_011522363.1:c.1558C>A (CCDC78) XP_011520665.1:p.Gln520Lys
XM_011522364.1:c.1558C>A (CCDC78) XP_011520666.1:p.Gln520Lys
XM_011522365.1:c.1345C>A (CCDC78) XP_011520667.1:p.Gln449Lys
XM_011522366.1:c.1336C>A (CCDC78) XP_011520668.1:p.Gln446Lys
XM_011522367.1:c.1177C>A (CCDC78) XP_011520669.1:p.Gln393Lys
XM_011522368.1:c.1165C>A (CCDC78) XP_011520670.1:p.Gln389Lys
XM_011522369.1:c.1123C>A (CCDC78) XP_011520671.1:p.Gln375Lys
XM_011522370.1:c.955C>A (CCDC78) XP_011520672.1:p.Gln319Lys
XM_011522371.1:c.670C>A (CCDC78) XP_011520673.1:p.Gln224Lys
XM_006720843.4:c.1111C>A (CCDC78) XP_006720906.1:p.Gln371Lys
XM_011522358.2:c.1558C>A (CCDC78) XP_011520660.1:p.Gln520Lys
XM_011522371.2:c.670C>A (CCDC78) XP_011520673.1:p.Gln224Lys
XM_017022929.1:c.1558C>A (CCDC78) XP_016878418.1:p.Gln520Lys
XM_017022930.1:c.658C>A (CCDC78) XP_016878419.1:p.Gln220Lys
XM_017022931.1:c.-143C>A (CCDC78) XP_016878420.1:n.-143C>A
XM_024450150.1:c.388C>A (CCDC78) XP_024305918.1:p.Gln130Lys
XR_001751835.1:n.1897C>A (CCDC78)
XR_001751836.1:n.1876C>A (CCDC78)
XR_001751837.1:n.1654C>A (CCDC78)
XR_001751838.1:n.2000C>A (CCDC78)
XR_001751839.1:n.1462C>A (CCDC78)
NM_001031737.3:c.1111C>A (CCDC78) NP_001026907.2:p.Gln371Lys
NM_001378030.1:c.1111C>A (CCDC78) MANE Select NP_001364959.1:p.Gln371Lys
NM_001378031.1:c.953+443C>A (CCDC78) NP_001364960.1:n.953+443C>A
NM_001378033.1:c.544C>A (CCDC78) NP_001364962.1:p.Gln182Lys
NR_165382.1:n.1668C>A (CCDC78)
NR_165383.1:n.1314C>A (CCDC78)
NR_165384.1:n.1279C>A (CCDC78)
NR_165385.1:n.1379C>A (CCDC78)
NR_165386.1:n.1446C>A (CCDC78)