Canonical Allele Identifier: CA276519708

Linked Data

dbSNP Id: rs987374804
gnomAD v4: 16-723915-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723915G>A , CM000678.2:g.723915G>A GRCh38
NC_000016.9:g.773915G>A , CM000678.1:g.773915G>A GRCh37
NC_000016.8:g.713916G>A NCBI36
NG_032932.1:g.7559C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1618C>T (CCDC78)
ENST00000345165.10:c.1075C>T (CCDC78) MANE Select ENSP00000316851.5:p.Leu359Phe
ENST00000293889.10:c.1075C>T (CCDC78) ENSP00000293889.6:p.Leu359Phe
ENST00000345165.8:c.621C>T (CCDC78)
ENST00000463539.5:n.1397C>T (CCDC78)
ENST00000466708.5:n.1419C>T (CCDC78)
ENST00000478979.5:n.1722C>T (CCDC78)
ENST00000481804.5:n.2053C>T (CCDC78)
ENST00000482152.1:n.436C>T (CCDC78)
ENST00000482878.5:n.2125C>T (CCDC78)
ENST00000485091.5:n.1228C>T (CCDC78)
ENST00000620831.4:c.-49-38717G>A (MSLN) ENSP00000482893.1:n.-49-38717G>A
NM_001031737.2:c.1075C>T (CCDC78) NP_001026907.2:p.Leu359Phe
XM_006720838.1:c.1297C>T (CCDC78) XP_006720901.1:p.Leu433Phe
XM_006720843.2:c.1075C>T (CCDC78) XP_006720906.1:p.Leu359Phe
XM_011522356.1:c.1522C>T (CCDC78) XP_011520658.1:p.Leu508Phe
XM_011522357.1:c.1510C>T (CCDC78) XP_011520659.1:p.Leu504Phe
XM_011522358.1:c.1522C>T (CCDC78) XP_011520660.1:p.Leu508Phe
XM_011522359.1:c.1489C>T (CCDC78) XP_011520661.1:p.Leu497Phe
XM_011522360.1:c.1477C>T (CCDC78) XP_011520662.1:p.Leu493Phe
XM_011522361.1:c.1522C>T (CCDC78) XP_011520663.1:p.Leu508Phe
XM_011522362.1:c.1522C>T (CCDC78) XP_011520664.1:p.Leu508Phe
XM_011522363.1:c.1522C>T (CCDC78) XP_011520665.1:p.Leu508Phe
XM_011522364.1:c.1522C>T (CCDC78) XP_011520666.1:p.Leu508Phe
XM_011522365.1:c.1309C>T (CCDC78) XP_011520667.1:p.Leu437Phe
XM_011522366.1:c.1300C>T (CCDC78) XP_011520668.1:p.Leu434Phe
XM_011522367.1:c.1141C>T (CCDC78) XP_011520669.1:p.Leu381Phe
XM_011522368.1:c.1129C>T (CCDC78) XP_011520670.1:p.Leu377Phe
XM_011522369.1:c.1087C>T (CCDC78) XP_011520671.1:p.Leu363Phe
XM_011522370.1:c.919C>T (CCDC78) XP_011520672.1:p.Leu307Phe
XM_011522371.1:c.634C>T (CCDC78) XP_011520673.1:p.Leu212Phe
XM_006720843.4:c.1075C>T (CCDC78) XP_006720906.1:p.Leu359Phe
XM_011522358.2:c.1522C>T (CCDC78) XP_011520660.1:p.Leu508Phe
XM_011522371.2:c.634C>T (CCDC78) XP_011520673.1:p.Leu212Phe
XM_017022929.1:c.1522C>T (CCDC78) XP_016878418.1:p.Leu508Phe
XM_017022930.1:c.622C>T (CCDC78) XP_016878419.1:p.Leu208Phe
XM_017022931.1:c.-179C>T (CCDC78) XP_016878420.1:n.-179C>T
XM_024450150.1:c.352C>T (CCDC78) XP_024305918.1:p.Leu118Phe
XR_001751835.1:n.1861C>T (CCDC78)
XR_001751836.1:n.1840C>T (CCDC78)
XR_001751837.1:n.1618C>T (CCDC78)
XR_001751838.1:n.1964C>T (CCDC78)
XR_001751839.1:n.1426C>T (CCDC78)
NM_001031737.3:c.1075C>T (CCDC78) NP_001026907.2:p.Leu359Phe
NM_001378030.1:c.1075C>T (CCDC78) MANE Select NP_001364959.1:p.Leu359Phe
NM_001378031.1:c.953+407C>T (CCDC78) NP_001364960.1:n.953+407C>T
NM_001378033.1:c.508C>T (CCDC78) NP_001364962.1:p.Leu170Phe
NR_165382.1:n.1632C>T (CCDC78)
NR_165383.1:n.1278C>T (CCDC78)
NR_165384.1:n.1243C>T (CCDC78)
NR_165385.1:n.1343C>T (CCDC78)
NR_165386.1:n.1410C>T (CCDC78)