Canonical Allele Identifier: CA7789538
Community Standard Title: NM_001378030.1(CCDC78):c.554C>T (p.Thr185Met)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.725084G>A , CM000678.2:g.725084G>A GRCh38
NC_000016.9:g.775084G>A , CM000678.1:g.775084G>A GRCh37
NC_000016.8:g.715085G>A NCBI36
NG_032932.1:g.6390C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378030.1:c.554C>T (CCDC78) MANE Select NP_001364959.1:p.Thr185Met
ENST00000345165.10:c.554C>T (CCDC78) MANE Select ENSP00000316851.5:p.Thr185Met
NM_001031737.2:c.554C>T (CCDC78) NP_001026907.2:p.Thr185Met
NM_001031737.3:c.554C>T (CCDC78) NP_001026907.2:p.Thr185Met
NM_001378031.1:c.554C>T (CCDC78) NP_001364960.1:p.Thr185Met
NM_001378033.1:c.192C>T (CCDC78) NP_001364962.1:p.Asp64=
NR_165382.1:n.852C>T (CCDC78)
NR_165383.1:n.586C>T (CCDC78)
NR_165384.1:n.553C>T (CCDC78)
NR_165385.1:n.630C>T (CCDC78)
NR_165386.1:n.630C>T (CCDC78)
ENST00000293889.10:c.554C>T (CCDC78) ENSP00000293889.6:p.Thr185Met
ENST00000345165.8:c.100C>T (CCDC78)
ENST00000423653.5:c.101C>T (CCDC78) ENSP00000458590.1:p.Thr34Met
ENST00000423653.6:n.599C>T (CCDC78)
ENST00000439619.6:n.722C>T (CCDC78)
ENST00000460023.5:n.612C>T (CCDC78)
ENST00000463539.5:n.617C>T (CCDC78)
ENST00000466708.5:n.727C>T (CCDC78)
ENST00000471861.5:n.660C>T (CCDC78)
ENST00000478979.5:n.553C>T (CCDC78)
ENST00000481804.5:n.1053C>T (CCDC78)
ENST00000482878.5:n.956C>T (CCDC78)
ENST00000485091.5:n.707C>T (CCDC78)
ENST00000538176.5:n.624C>T (CCDC78)
ENST00000544996.1:n.451C>T (CCDC78)
ENST00000620831.4:c.-49-37548G>A (MSLN) ENSP00000482893.1:n.-49-37548G>A
ENST00000682391.1:n.734C>T (CCDC78)
XM_005255106.3:c.612C>T (CCDC78) XP_005255163.1:p.Asp204=
XM_006720838.1:c.776C>T (CCDC78) XP_006720901.1:p.Thr259Met
XM_006720843.2:c.554C>T (CCDC78) XP_006720906.1:p.Thr185Met
XM_006720843.4:c.554C>T (CCDC78) XP_006720906.1:p.Thr185Met
XM_011522356.1:c.1080C>T (CCDC78) XP_011520658.1:p.Asp360=
XM_011522357.1:c.989C>T (CCDC78) XP_011520659.1:p.Thr330Met
XM_011522358.1:c.1080C>T (CCDC78) XP_011520660.1:p.Asp360=
XM_011522358.2:c.1080C>T (CCDC78) XP_011520660.1:p.Asp360=
XM_011522359.1:c.1047C>T (CCDC78) XP_011520661.1:p.Asp349=
XM_011522360.1:c.956C>T (CCDC78) XP_011520662.1:p.Thr319Met
XM_011522361.1:c.1080C>T (CCDC78) XP_011520663.1:p.Asp360=
XM_011522362.1:c.1080C>T (CCDC78) XP_011520664.1:p.Asp360=
XM_011522363.1:c.1080C>T (CCDC78) XP_011520665.1:p.Asp360=
XM_011522364.1:c.1080C>T (CCDC78) XP_011520666.1:p.Asp360=
XM_011522365.1:c.867C>T (CCDC78) XP_011520667.1:p.Asp289=
XM_011522366.1:c.858C>T (CCDC78) XP_011520668.1:p.Asp286=
XM_011522367.1:c.699C>T (CCDC78) XP_011520669.1:p.Asp233=
XM_011522368.1:c.608C>T (CCDC78) XP_011520670.1:p.Thr203Met
XM_011522369.1:c.645C>T (CCDC78) XP_011520671.1:p.Asp215=
XM_011522370.1:c.477C>T (CCDC78) XP_011520672.1:p.Asp159=
XM_011522371.1:c.192C>T (CCDC78) XP_011520673.1:p.Asp64=
XM_011522371.2:c.192C>T (CCDC78) XP_011520673.1:p.Asp64=
XM_017022929.1:c.1080C>T (CCDC78) XP_016878418.1:p.Asp360=
XM_017022930.1:c.101C>T (CCDC78) XP_016878419.1:p.Thr34Met
XR_001751835.1:n.1169C>T (CCDC78)
XR_001751836.1:n.956C>T (CCDC78)
XR_001751837.1:n.734C>T (CCDC78)
XR_001751838.1:n.1080C>T (CCDC78)
XR_001751839.1:n.734C>T (CCDC78)