Canonical Allele Identifier: CA394098485

Linked Data

gnomAD v4: 16-723921-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723921C>T , CM000678.2:g.723921C>T GRCh38
NC_000016.9:g.773921C>T , CM000678.1:g.773921C>T GRCh37
NC_000016.8:g.713922C>T NCBI36
NG_032932.1:g.7553G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1612G>A (CCDC78)
ENST00000345165.10:c.1069G>A (CCDC78) MANE Select ENSP00000316851.5:p.Ala357Thr
ENST00000293889.10:c.1069G>A (CCDC78) ENSP00000293889.6:p.Ala357Thr
ENST00000345165.8:c.615G>A (CCDC78)
ENST00000463539.5:n.1391G>A (CCDC78)
ENST00000466708.5:n.1413G>A (CCDC78)
ENST00000478979.5:n.1716G>A (CCDC78)
ENST00000481804.5:n.2047G>A (CCDC78)
ENST00000482152.1:n.430G>A (CCDC78)
ENST00000482878.5:n.2119G>A (CCDC78)
ENST00000485091.5:n.1222G>A (CCDC78)
ENST00000620831.4:c.-49-38711C>T (MSLN) ENSP00000482893.1:n.-49-38711C>T
NM_001031737.2:c.1069G>A (CCDC78) NP_001026907.2:p.Ala357Thr
XM_006720838.1:c.1291G>A (CCDC78) XP_006720901.1:p.Ala431Thr
XM_006720843.2:c.1069G>A (CCDC78) XP_006720906.1:p.Ala357Thr
XM_011522356.1:c.1516G>A (CCDC78) XP_011520658.1:p.Ala506Thr
XM_011522357.1:c.1504G>A (CCDC78) XP_011520659.1:p.Ala502Thr
XM_011522358.1:c.1516G>A (CCDC78) XP_011520660.1:p.Ala506Thr
XM_011522359.1:c.1483G>A (CCDC78) XP_011520661.1:p.Ala495Thr
XM_011522360.1:c.1471G>A (CCDC78) XP_011520662.1:p.Ala491Thr
XM_011522361.1:c.1516G>A (CCDC78) XP_011520663.1:p.Ala506Thr
XM_011522362.1:c.1516G>A (CCDC78) XP_011520664.1:p.Ala506Thr
XM_011522363.1:c.1516G>A (CCDC78) XP_011520665.1:p.Ala506Thr
XM_011522364.1:c.1516G>A (CCDC78) XP_011520666.1:p.Ala506Thr
XM_011522365.1:c.1303G>A (CCDC78) XP_011520667.1:p.Ala435Thr
XM_011522366.1:c.1294G>A (CCDC78) XP_011520668.1:p.Ala432Thr
XM_011522367.1:c.1135G>A (CCDC78) XP_011520669.1:p.Ala379Thr
XM_011522368.1:c.1123G>A (CCDC78) XP_011520670.1:p.Ala375Thr
XM_011522369.1:c.1081G>A (CCDC78) XP_011520671.1:p.Ala361Thr
XM_011522370.1:c.913G>A (CCDC78) XP_011520672.1:p.Ala305Thr
XM_011522371.1:c.628G>A (CCDC78) XP_011520673.1:p.Ala210Thr
XM_006720843.4:c.1069G>A (CCDC78) XP_006720906.1:p.Ala357Thr
XM_011522358.2:c.1516G>A (CCDC78) XP_011520660.1:p.Ala506Thr
XM_011522371.2:c.628G>A (CCDC78) XP_011520673.1:p.Ala210Thr
XM_017022929.1:c.1516G>A (CCDC78) XP_016878418.1:p.Ala506Thr
XM_017022930.1:c.616G>A (CCDC78) XP_016878419.1:p.Ala206Thr
XM_017022931.1:c.-185G>A (CCDC78) XP_016878420.1:n.-185G>A
XM_024450150.1:c.346G>A (CCDC78) XP_024305918.1:p.Ala116Thr
XR_001751835.1:n.1855G>A (CCDC78)
XR_001751836.1:n.1834G>A (CCDC78)
XR_001751837.1:n.1612G>A (CCDC78)
XR_001751838.1:n.1958G>A (CCDC78)
XR_001751839.1:n.1420G>A (CCDC78)
NM_001031737.3:c.1069G>A (CCDC78) NP_001026907.2:p.Ala357Thr
NM_001378030.1:c.1069G>A (CCDC78) MANE Select NP_001364959.1:p.Ala357Thr
NM_001378031.1:c.953+401G>A (CCDC78) NP_001364960.1:n.953+401G>A
NM_001378033.1:c.502G>A (CCDC78) NP_001364962.1:p.Ala168Thr
NR_165382.1:n.1626G>A (CCDC78)
NR_165383.1:n.1272G>A (CCDC78)
NR_165384.1:n.1237G>A (CCDC78)
NR_165385.1:n.1337G>A (CCDC78)
NR_165386.1:n.1404G>A (CCDC78)