Canonical Allele Identifier: CA492830050

Linked Data

dbSNP Id: rs2040534453
gnomAD v4: 16-723886-T-C
MyVariant Identifiers: chr16:g.773886T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723886T>C , CM000678.2:g.723886T>C GRCh38
NC_000016.9:g.773886T>C , CM000678.1:g.773886T>C GRCh37
NC_000016.8:g.713887T>C NCBI36
NG_032932.1:g.7588A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1647A>G (CCDC78)
ENST00000345165.10:c.1104A>G (CCDC78) MANE Select ENSP00000316851.5:p.Gly368=
ENST00000293889.10:c.1104A>G (CCDC78) ENSP00000293889.6:p.Gly368=
ENST00000345165.8:c.650A>G (CCDC78)
ENST00000463539.5:n.1426A>G (CCDC78)
ENST00000466708.5:n.1448A>G (CCDC78)
ENST00000478979.5:n.1751A>G (CCDC78)
ENST00000481804.5:n.2082A>G (CCDC78)
ENST00000482152.1:n.465A>G (CCDC78)
ENST00000482878.5:n.2154A>G (CCDC78)
ENST00000485091.5:n.1257A>G (CCDC78)
ENST00000620831.4:c.-49-38746T>C (MSLN) ENSP00000482893.1:n.-49-38746T>C
NM_001031737.2:c.1104A>G (CCDC78) NP_001026907.2:p.Gly368=
XM_006720838.1:c.1326A>G (CCDC78) XP_006720901.1:p.Gly442=
XM_006720843.2:c.1104A>G (CCDC78) XP_006720906.1:p.Gly368=
XM_011522356.1:c.1551A>G (CCDC78) XP_011520658.1:p.Gly517=
XM_011522357.1:c.1539A>G (CCDC78) XP_011520659.1:p.Gly513=
XM_011522358.1:c.1551A>G (CCDC78) XP_011520660.1:p.Gly517=
XM_011522359.1:c.1518A>G (CCDC78) XP_011520661.1:p.Gly506=
XM_011522360.1:c.1506A>G (CCDC78) XP_011520662.1:p.Gly502=
XM_011522361.1:c.1551A>G (CCDC78) XP_011520663.1:p.Gly517=
XM_011522362.1:c.1551A>G (CCDC78) XP_011520664.1:p.Gly517=
XM_011522363.1:c.1551A>G (CCDC78) XP_011520665.1:p.Gly517=
XM_011522364.1:c.1551A>G (CCDC78) XP_011520666.1:p.Gly517=
XM_011522365.1:c.1338A>G (CCDC78) XP_011520667.1:p.Gly446=
XM_011522366.1:c.1329A>G (CCDC78) XP_011520668.1:p.Gly443=
XM_011522367.1:c.1170A>G (CCDC78) XP_011520669.1:p.Gly390=
XM_011522368.1:c.1158A>G (CCDC78) XP_011520670.1:p.Gly386=
XM_011522369.1:c.1116A>G (CCDC78) XP_011520671.1:p.Gly372=
XM_011522370.1:c.948A>G (CCDC78) XP_011520672.1:p.Gly316=
XM_011522371.1:c.663A>G (CCDC78) XP_011520673.1:p.Gly221=
XM_006720843.4:c.1104A>G (CCDC78) XP_006720906.1:p.Gly368=
XM_011522358.2:c.1551A>G (CCDC78) XP_011520660.1:p.Gly517=
XM_011522371.2:c.663A>G (CCDC78) XP_011520673.1:p.Gly221=
XM_017022929.1:c.1551A>G (CCDC78) XP_016878418.1:p.Gly517=
XM_017022930.1:c.651A>G (CCDC78) XP_016878419.1:p.Gly217=
XM_017022931.1:c.-150A>G (CCDC78) XP_016878420.1:n.-150A>G
XM_024450150.1:c.381A>G (CCDC78) XP_024305918.1:p.Gly127=
XR_001751835.1:n.1890A>G (CCDC78)
XR_001751836.1:n.1869A>G (CCDC78)
XR_001751837.1:n.1647A>G (CCDC78)
XR_001751838.1:n.1993A>G (CCDC78)
XR_001751839.1:n.1455A>G (CCDC78)
NM_001031737.3:c.1104A>G (CCDC78) NP_001026907.2:p.Gly368=
NM_001378030.1:c.1104A>G (CCDC78) MANE Select NP_001364959.1:p.Gly368=
NM_001378031.1:c.953+436A>G (CCDC78) NP_001364960.1:n.953+436A>G
NM_001378033.1:c.537A>G (CCDC78) NP_001364962.1:p.Gly179=
NR_165382.1:n.1661A>G (CCDC78)
NR_165383.1:n.1307A>G (CCDC78)
NR_165384.1:n.1272A>G (CCDC78)
NR_165385.1:n.1372A>G (CCDC78)
NR_165386.1:n.1439A>G (CCDC78)