Canonical Allele Identifier: CA394103445
Community Standard Title: NM_001378030.1(CCDC78):c.430T>C (p.Phe144Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.725418A>G , CM000678.2:g.725418A>G GRCh38
NC_000016.9:g.775418A>G , CM000678.1:g.775418A>G GRCh37
NC_000016.8:g.715419A>G NCBI36
NG_032932.1:g.6056T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378030.1:c.430T>C (CCDC78) MANE Select NP_001364959.1:p.Phe144Leu
ENST00000345165.10:c.430T>C (CCDC78) MANE Select ENSP00000316851.5:p.Phe144Leu
NM_001031737.2:c.430T>C (CCDC78) NP_001026907.2:p.Phe144Leu
NM_001031737.3:c.430T>C (CCDC78) NP_001026907.2:p.Phe144Leu
NM_001378031.1:c.430T>C (CCDC78) NP_001364960.1:p.Phe144Leu
NM_001378033.1:c.-18-125T>C (CCDC78) NP_001364962.1:n.-18-125T>C
NR_165382.1:n.728T>C (CCDC78)
NR_165383.1:n.462T>C (CCDC78)
NR_165384.1:n.434+28T>C (CCDC78)
NR_165385.1:n.506T>C (CCDC78)
NR_165386.1:n.506T>C (CCDC78)
ENST00000293889.10:c.430T>C (CCDC78) ENSP00000293889.6:p.Phe144Leu
ENST00000423653.5:c.-24T>C (CCDC78) ENSP00000458590.1:n.-24T>C
ENST00000423653.6:n.475T>C (CCDC78)
ENST00000439619.6:n.507T>C (CCDC78)
ENST00000460023.5:n.402+28T>C (CCDC78)
ENST00000463539.5:n.493T>C (CCDC78)
ENST00000466708.5:n.608+28T>C (CCDC78)
ENST00000471861.5:n.536T>C (CCDC78)
ENST00000474647.1:n.336-125T>C (CCDC78)
ENST00000478979.5:n.344-125T>C (CCDC78)
ENST00000481804.5:n.719T>C (CCDC78)
ENST00000482878.5:n.741T>C (CCDC78)
ENST00000485091.5:n.492T>C (CCDC78)
ENST00000538176.5:n.500T>C (CCDC78)
ENST00000544996.1:n.236T>C (CCDC78)
ENST00000620831.4:c.-49-37214A>G (MSLN) ENSP00000482893.1:n.-49-37214A>G
ENST00000682391.1:n.519T>C (CCDC78)
XM_005255106.3:c.402+28T>C (CCDC78) XP_005255163.1:n.402+28T>C
XM_006720838.1:c.652T>C (CCDC78) XP_006720901.1:p.Phe218Leu
XM_006720843.2:c.430T>C (CCDC78) XP_006720906.1:p.Phe144Leu
XM_006720843.4:c.430T>C (CCDC78) XP_006720906.1:p.Phe144Leu
XM_011522356.1:c.865T>C (CCDC78) XP_011520658.1:p.Phe289Leu
XM_011522357.1:c.865T>C (CCDC78) XP_011520659.1:p.Phe289Leu
XM_011522358.1:c.865T>C (CCDC78) XP_011520660.1:p.Phe289Leu
XM_011522358.2:c.865T>C (CCDC78) XP_011520660.1:p.Phe289Leu
XM_011522359.1:c.837+28T>C (CCDC78) XP_011520661.1:n.837+28T>C
XM_011522360.1:c.837+28T>C (CCDC78) XP_011520662.1:n.837+28T>C
XM_011522361.1:c.865T>C (CCDC78) XP_011520663.1:p.Phe289Leu
XM_011522362.1:c.865T>C (CCDC78) XP_011520664.1:p.Phe289Leu
XM_011522363.1:c.865T>C (CCDC78) XP_011520665.1:p.Phe289Leu
XM_011522364.1:c.865T>C (CCDC78) XP_011520666.1:p.Phe289Leu
XM_011522365.1:c.652T>C (CCDC78) XP_011520667.1:p.Phe218Leu
XM_011522366.1:c.643T>C (CCDC78) XP_011520668.1:p.Phe215Leu
XM_011522367.1:c.490-125T>C (CCDC78) XP_011520669.1:n.490-125T>C
XM_011522368.1:c.490-125T>C (CCDC78) XP_011520670.1:n.490-125T>C
XM_011522369.1:c.430T>C (CCDC78) XP_011520671.1:p.Phe144Leu
XM_011522370.1:c.268-125T>C (CCDC78) XP_011520672.1:n.268-125T>C
XM_011522371.1:c.-18-125T>C (CCDC78) XP_011520673.1:n.-18-125T>C
XM_011522371.2:c.-18-125T>C (CCDC78) XP_011520673.1:n.-18-125T>C
XM_017022929.1:c.865T>C (CCDC78) XP_016878418.1:p.Phe289Leu
XM_017022930.1:c.-24T>C (CCDC78) XP_016878419.1:n.-24T>C
XR_001751835.1:n.954T>C (CCDC78)
XR_001751836.1:n.741T>C (CCDC78)
XR_001751837.1:n.519T>C (CCDC78)
XR_001751838.1:n.870+28T>C (CCDC78)
XR_001751839.1:n.519T>C (CCDC78)