Canonical Allele Identifier: CA276519699

Linked Data

dbSNP Id: rs370950546
gnomAD v2: 16-773903-T-C
gnomAD v4: 16-723903-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723903T>C , CM000678.2:g.723903T>C GRCh38
NC_000016.9:g.773903T>C , CM000678.1:g.773903T>C GRCh37
NC_000016.8:g.713904T>C NCBI36
NG_032932.1:g.7571A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1630A>G (CCDC78)
ENST00000345165.10:c.1087A>G (CCDC78) MANE Select ENSP00000316851.5:p.Lys363Glu
ENST00000293889.10:c.1087A>G (CCDC78) ENSP00000293889.6:p.Lys363Glu
ENST00000345165.8:c.633A>G (CCDC78)
ENST00000463539.5:n.1409A>G (CCDC78)
ENST00000466708.5:n.1431A>G (CCDC78)
ENST00000478979.5:n.1734A>G (CCDC78)
ENST00000481804.5:n.2065A>G (CCDC78)
ENST00000482152.1:n.448A>G (CCDC78)
ENST00000482878.5:n.2137A>G (CCDC78)
ENST00000485091.5:n.1240A>G (CCDC78)
ENST00000620831.4:c.-49-38729T>C (MSLN) ENSP00000482893.1:n.-49-38729T>C
NM_001031737.2:c.1087A>G (CCDC78) NP_001026907.2:p.Lys363Glu
XM_006720838.1:c.1309A>G (CCDC78) XP_006720901.1:p.Lys437Glu
XM_006720843.2:c.1087A>G (CCDC78) XP_006720906.1:p.Lys363Glu
XM_011522356.1:c.1534A>G (CCDC78) XP_011520658.1:p.Lys512Glu
XM_011522357.1:c.1522A>G (CCDC78) XP_011520659.1:p.Lys508Glu
XM_011522358.1:c.1534A>G (CCDC78) XP_011520660.1:p.Lys512Glu
XM_011522359.1:c.1501A>G (CCDC78) XP_011520661.1:p.Lys501Glu
XM_011522360.1:c.1489A>G (CCDC78) XP_011520662.1:p.Lys497Glu
XM_011522361.1:c.1534A>G (CCDC78) XP_011520663.1:p.Lys512Glu
XM_011522362.1:c.1534A>G (CCDC78) XP_011520664.1:p.Lys512Glu
XM_011522363.1:c.1534A>G (CCDC78) XP_011520665.1:p.Lys512Glu
XM_011522364.1:c.1534A>G (CCDC78) XP_011520666.1:p.Lys512Glu
XM_011522365.1:c.1321A>G (CCDC78) XP_011520667.1:p.Lys441Glu
XM_011522366.1:c.1312A>G (CCDC78) XP_011520668.1:p.Lys438Glu
XM_011522367.1:c.1153A>G (CCDC78) XP_011520669.1:p.Lys385Glu
XM_011522368.1:c.1141A>G (CCDC78) XP_011520670.1:p.Lys381Glu
XM_011522369.1:c.1099A>G (CCDC78) XP_011520671.1:p.Lys367Glu
XM_011522370.1:c.931A>G (CCDC78) XP_011520672.1:p.Lys311Glu
XM_011522371.1:c.646A>G (CCDC78) XP_011520673.1:p.Lys216Glu
XM_006720843.4:c.1087A>G (CCDC78) XP_006720906.1:p.Lys363Glu
XM_011522358.2:c.1534A>G (CCDC78) XP_011520660.1:p.Lys512Glu
XM_011522371.2:c.646A>G (CCDC78) XP_011520673.1:p.Lys216Glu
XM_017022929.1:c.1534A>G (CCDC78) XP_016878418.1:p.Lys512Glu
XM_017022930.1:c.634A>G (CCDC78) XP_016878419.1:p.Lys212Glu
XM_017022931.1:c.-167A>G (CCDC78) XP_016878420.1:n.-167A>G
XM_024450150.1:c.364A>G (CCDC78) XP_024305918.1:p.Lys122Glu
XR_001751835.1:n.1873A>G (CCDC78)
XR_001751836.1:n.1852A>G (CCDC78)
XR_001751837.1:n.1630A>G (CCDC78)
XR_001751838.1:n.1976A>G (CCDC78)
XR_001751839.1:n.1438A>G (CCDC78)
NM_001031737.3:c.1087A>G (CCDC78) NP_001026907.2:p.Lys363Glu
NM_001378030.1:c.1087A>G (CCDC78) MANE Select NP_001364959.1:p.Lys363Glu
NM_001378031.1:c.953+419A>G (CCDC78) NP_001364960.1:n.953+419A>G
NM_001378033.1:c.520A>G (CCDC78) NP_001364962.1:p.Lys174Glu
NR_165382.1:n.1644A>G (CCDC78)
NR_165383.1:n.1290A>G (CCDC78)
NR_165384.1:n.1255A>G (CCDC78)
NR_165385.1:n.1355A>G (CCDC78)
NR_165386.1:n.1422A>G (CCDC78)