Canonical Allele Identifier: CA394098377

Linked Data

gnomAD v4: 16-723887-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723887C>A , CM000678.2:g.723887C>A GRCh38
NC_000016.9:g.773887C>A , CM000678.1:g.773887C>A GRCh37
NC_000016.8:g.713888C>A NCBI36
NG_032932.1:g.7587G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1646G>T (CCDC78)
ENST00000345165.10:c.1103G>T (CCDC78) MANE Select ENSP00000316851.5:p.Gly368Val
ENST00000293889.10:c.1103G>T (CCDC78) ENSP00000293889.6:p.Gly368Val
ENST00000345165.8:c.649G>T (CCDC78)
ENST00000463539.5:n.1425G>T (CCDC78)
ENST00000466708.5:n.1447G>T (CCDC78)
ENST00000478979.5:n.1750G>T (CCDC78)
ENST00000481804.5:n.2081G>T (CCDC78)
ENST00000482152.1:n.464G>T (CCDC78)
ENST00000482878.5:n.2153G>T (CCDC78)
ENST00000485091.5:n.1256G>T (CCDC78)
ENST00000620831.4:c.-49-38745C>A (MSLN) ENSP00000482893.1:n.-49-38745C>A
NM_001031737.2:c.1103G>T (CCDC78) NP_001026907.2:p.Gly368Val
XM_006720838.1:c.1325G>T (CCDC78) XP_006720901.1:p.Gly442Val
XM_006720843.2:c.1103G>T (CCDC78) XP_006720906.1:p.Gly368Val
XM_011522356.1:c.1550G>T (CCDC78) XP_011520658.1:p.Gly517Val
XM_011522357.1:c.1538G>T (CCDC78) XP_011520659.1:p.Gly513Val
XM_011522358.1:c.1550G>T (CCDC78) XP_011520660.1:p.Gly517Val
XM_011522359.1:c.1517G>T (CCDC78) XP_011520661.1:p.Gly506Val
XM_011522360.1:c.1505G>T (CCDC78) XP_011520662.1:p.Gly502Val
XM_011522361.1:c.1550G>T (CCDC78) XP_011520663.1:p.Gly517Val
XM_011522362.1:c.1550G>T (CCDC78) XP_011520664.1:p.Gly517Val
XM_011522363.1:c.1550G>T (CCDC78) XP_011520665.1:p.Gly517Val
XM_011522364.1:c.1550G>T (CCDC78) XP_011520666.1:p.Gly517Val
XM_011522365.1:c.1337G>T (CCDC78) XP_011520667.1:p.Gly446Val
XM_011522366.1:c.1328G>T (CCDC78) XP_011520668.1:p.Gly443Val
XM_011522367.1:c.1169G>T (CCDC78) XP_011520669.1:p.Gly390Val
XM_011522368.1:c.1157G>T (CCDC78) XP_011520670.1:p.Gly386Val
XM_011522369.1:c.1115G>T (CCDC78) XP_011520671.1:p.Gly372Val
XM_011522370.1:c.947G>T (CCDC78) XP_011520672.1:p.Gly316Val
XM_011522371.1:c.662G>T (CCDC78) XP_011520673.1:p.Gly221Val
XM_006720843.4:c.1103G>T (CCDC78) XP_006720906.1:p.Gly368Val
XM_011522358.2:c.1550G>T (CCDC78) XP_011520660.1:p.Gly517Val
XM_011522371.2:c.662G>T (CCDC78) XP_011520673.1:p.Gly221Val
XM_017022929.1:c.1550G>T (CCDC78) XP_016878418.1:p.Gly517Val
XM_017022930.1:c.650G>T (CCDC78) XP_016878419.1:p.Gly217Val
XM_017022931.1:c.-151G>T (CCDC78) XP_016878420.1:n.-151G>T
XM_024450150.1:c.380G>T (CCDC78) XP_024305918.1:p.Gly127Val
XR_001751835.1:n.1889G>T (CCDC78)
XR_001751836.1:n.1868G>T (CCDC78)
XR_001751837.1:n.1646G>T (CCDC78)
XR_001751838.1:n.1992G>T (CCDC78)
XR_001751839.1:n.1454G>T (CCDC78)
NM_001031737.3:c.1103G>T (CCDC78) NP_001026907.2:p.Gly368Val
NM_001378030.1:c.1103G>T (CCDC78) MANE Select NP_001364959.1:p.Gly368Val
NM_001378031.1:c.953+435G>T (CCDC78) NP_001364960.1:n.953+435G>T
NM_001378033.1:c.536G>T (CCDC78) NP_001364962.1:p.Gly179Val
NR_165382.1:n.1660G>T (CCDC78)
NR_165383.1:n.1306G>T (CCDC78)
NR_165384.1:n.1271G>T (CCDC78)
NR_165385.1:n.1371G>T (CCDC78)
NR_165386.1:n.1438G>T (CCDC78)