Canonical Allele Identifier: CA394098514

Linked Data

gnomAD v4: 16-723927-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723927G>T , CM000678.2:g.723927G>T GRCh38
NC_000016.9:g.773927G>T , CM000678.1:g.773927G>T GRCh37
NC_000016.8:g.713928G>T NCBI36
NG_032932.1:g.7547C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1606C>A (CCDC78)
ENST00000345165.10:c.1063C>A (CCDC78) MANE Select ENSP00000316851.5:p.Pro355Thr
ENST00000293889.10:c.1063C>A (CCDC78) ENSP00000293889.6:p.Pro355Thr
ENST00000345165.8:c.609C>A (CCDC78)
ENST00000463539.5:n.1385C>A (CCDC78)
ENST00000466708.5:n.1407C>A (CCDC78)
ENST00000478979.5:n.1710C>A (CCDC78)
ENST00000481804.5:n.2041C>A (CCDC78)
ENST00000482152.1:n.424C>A (CCDC78)
ENST00000482878.5:n.2113C>A (CCDC78)
ENST00000485091.5:n.1216C>A (CCDC78)
ENST00000620831.4:c.-49-38705G>T (MSLN) ENSP00000482893.1:n.-49-38705G>T
NM_001031737.2:c.1063C>A (CCDC78) NP_001026907.2:p.Pro355Thr
XM_006720838.1:c.1285C>A (CCDC78) XP_006720901.1:p.Pro429Thr
XM_006720843.2:c.1063C>A (CCDC78) XP_006720906.1:p.Pro355Thr
XM_011522356.1:c.1510C>A (CCDC78) XP_011520658.1:p.Pro504Thr
XM_011522357.1:c.1498C>A (CCDC78) XP_011520659.1:p.Pro500Thr
XM_011522358.1:c.1510C>A (CCDC78) XP_011520660.1:p.Pro504Thr
XM_011522359.1:c.1477C>A (CCDC78) XP_011520661.1:p.Pro493Thr
XM_011522360.1:c.1465C>A (CCDC78) XP_011520662.1:p.Pro489Thr
XM_011522361.1:c.1510C>A (CCDC78) XP_011520663.1:p.Pro504Thr
XM_011522362.1:c.1510C>A (CCDC78) XP_011520664.1:p.Pro504Thr
XM_011522363.1:c.1510C>A (CCDC78) XP_011520665.1:p.Pro504Thr
XM_011522364.1:c.1510C>A (CCDC78) XP_011520666.1:p.Pro504Thr
XM_011522365.1:c.1297C>A (CCDC78) XP_011520667.1:p.Pro433Thr
XM_011522366.1:c.1288C>A (CCDC78) XP_011520668.1:p.Pro430Thr
XM_011522367.1:c.1129C>A (CCDC78) XP_011520669.1:p.Pro377Thr
XM_011522368.1:c.1117C>A (CCDC78) XP_011520670.1:p.Pro373Thr
XM_011522369.1:c.1075C>A (CCDC78) XP_011520671.1:p.Pro359Thr
XM_011522370.1:c.907C>A (CCDC78) XP_011520672.1:p.Pro303Thr
XM_011522371.1:c.622C>A (CCDC78) XP_011520673.1:p.Pro208Thr
XM_006720843.4:c.1063C>A (CCDC78) XP_006720906.1:p.Pro355Thr
XM_011522358.2:c.1510C>A (CCDC78) XP_011520660.1:p.Pro504Thr
XM_011522371.2:c.622C>A (CCDC78) XP_011520673.1:p.Pro208Thr
XM_017022929.1:c.1510C>A (CCDC78) XP_016878418.1:p.Pro504Thr
XM_017022930.1:c.610C>A (CCDC78) XP_016878419.1:p.Pro204Thr
XM_017022931.1:c.-191C>A (CCDC78) XP_016878420.1:n.-191C>A
XM_024450150.1:c.340C>A (CCDC78) XP_024305918.1:p.Pro114Thr
XR_001751835.1:n.1849C>A (CCDC78)
XR_001751836.1:n.1828C>A (CCDC78)
XR_001751837.1:n.1606C>A (CCDC78)
XR_001751838.1:n.1952C>A (CCDC78)
XR_001751839.1:n.1414C>A (CCDC78)
NM_001031737.3:c.1063C>A (CCDC78) NP_001026907.2:p.Pro355Thr
NM_001378030.1:c.1063C>A (CCDC78) MANE Select NP_001364959.1:p.Pro355Thr
NM_001378031.1:c.953+395C>A (CCDC78) NP_001364960.1:n.953+395C>A
NM_001378033.1:c.496C>A (CCDC78) NP_001364962.1:p.Pro166Thr
NR_165382.1:n.1620C>A (CCDC78)
NR_165383.1:n.1266C>A (CCDC78)
NR_165384.1:n.1231C>A (CCDC78)
NR_165385.1:n.1331C>A (CCDC78)
NR_165386.1:n.1398C>A (CCDC78)