Canonical Allele Identifier: CA394098747

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724119T>A , CM000678.2:g.724119T>A GRCh38
NC_000016.9:g.774119T>A , CM000678.1:g.774119T>A GRCh37
NC_000016.8:g.714120T>A NCBI36
NG_032932.1:g.7355A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1583A>T (CCDC78)
ENST00000345165.10:c.1040A>T (CCDC78) MANE Select ENSP00000316851.5:p.His347Leu
ENST00000293889.10:c.1040A>T (CCDC78) ENSP00000293889.6:p.His347Leu
ENST00000345165.8:c.586A>T (CCDC78)
ENST00000463539.5:n.1362A>T (CCDC78)
ENST00000466708.5:n.1384A>T (CCDC78)
ENST00000478979.5:n.1518A>T (CCDC78)
ENST00000481804.5:n.2018A>T (CCDC78)
ENST00000482152.1:n.401A>T (CCDC78)
ENST00000482878.5:n.1921A>T (CCDC78)
ENST00000485091.5:n.1193A>T (CCDC78)
ENST00000620831.4:c.-49-38513T>A (MSLN) ENSP00000482893.1:n.-49-38513T>A
NM_001031737.2:c.1040A>T (CCDC78) NP_001026907.2:p.His347Leu
XM_006720838.1:c.1262A>T (CCDC78) XP_006720901.1:p.His421Leu
XM_006720843.2:c.1040A>T (CCDC78) XP_006720906.1:p.His347Leu
XM_011522356.1:c.1487A>T (CCDC78) XP_011520658.1:p.His496Leu
XM_011522357.1:c.1475A>T (CCDC78) XP_011520659.1:p.His492Leu
XM_011522358.1:c.1487A>T (CCDC78) XP_011520660.1:p.His496Leu
XM_011522359.1:c.1454A>T (CCDC78) XP_011520661.1:p.His485Leu
XM_011522360.1:c.1442A>T (CCDC78) XP_011520662.1:p.His481Leu
XM_011522361.1:c.1487A>T (CCDC78) XP_011520663.1:p.His496Leu
XM_011522362.1:c.1487A>T (CCDC78) XP_011520664.1:p.His496Leu
XM_011522363.1:c.1487A>T (CCDC78) XP_011520665.1:p.His496Leu
XM_011522364.1:c.1487A>T (CCDC78) XP_011520666.1:p.His496Leu
XM_011522365.1:c.1274A>T (CCDC78) XP_011520667.1:p.His425Leu
XM_011522366.1:c.1265A>T (CCDC78) XP_011520668.1:p.His422Leu
XM_011522367.1:c.1106A>T (CCDC78) XP_011520669.1:p.His369Leu
XM_011522368.1:c.1094A>T (CCDC78) XP_011520670.1:p.His365Leu
XM_011522369.1:c.1052A>T (CCDC78) XP_011520671.1:p.His351Leu
XM_011522370.1:c.884A>T (CCDC78) XP_011520672.1:p.His295Leu
XM_011522371.1:c.599A>T (CCDC78) XP_011520673.1:p.His200Leu
XM_006720843.4:c.1040A>T (CCDC78) XP_006720906.1:p.His347Leu
XM_011522358.2:c.1487A>T (CCDC78) XP_011520660.1:p.His496Leu
XM_011522371.2:c.599A>T (CCDC78) XP_011520673.1:p.His200Leu
XM_017022929.1:c.1487A>T (CCDC78) XP_016878418.1:p.His496Leu
XM_017022930.1:c.587A>T (CCDC78) XP_016878419.1:p.His196Leu
XM_024450150.1:c.317A>T (CCDC78) XP_024305918.1:p.His106Leu
XR_001751835.1:n.1826A>T (CCDC78)
XR_001751836.1:n.1805A>T (CCDC78)
XR_001751837.1:n.1583A>T (CCDC78)
XR_001751838.1:n.1929A>T (CCDC78)
XR_001751839.1:n.1391A>T (CCDC78)
NM_001031737.3:c.1040A>T (CCDC78) NP_001026907.2:p.His347Leu
NM_001378030.1:c.1040A>T (CCDC78) MANE Select NP_001364959.1:p.His347Leu
NM_001378031.1:c.953+203A>T (CCDC78) NP_001364960.1:n.953+203A>T
NM_001378033.1:c.473A>T (CCDC78) NP_001364962.1:p.His158Leu
NR_165382.1:n.1597A>T (CCDC78)
NR_165383.1:n.1243A>T (CCDC78)
NR_165384.1:n.1208A>T (CCDC78)
NR_165385.1:n.1308A>T (CCDC78)
NR_165386.1:n.1375A>T (CCDC78)