Canonical Allele Identifier: CA401633470
Gene: TBCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82925001T>G , CM000679.2:g.82925001T>G GRCh38
NC_000017.10:g.80882877T>G , CM000679.1:g.80882877T>G GRCh37
NC_000017.9:g.78476166T>G NCBI36
NG_011721.1:g.177938T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000574886.2:n.1531T>G
ENST00000576677.6:n.1452T>G
ENST00000681983.1:n.2459T>G
ENST00000682099.1:n.1220T>G
ENST00000682213.1:c.*294T>G ENSP00000508166.1:n.*294T>G
ENST00000682315.1:c.637T>G ENSP00000507232.1:p.Phe213Val
ENST00000682479.1:c.2413T>G ENSP00000508214.1:p.Phe805Val
ENST00000682610.1:n.1563T>G
ENST00000682654.1:c.*294T>G ENSP00000507412.1:n.*294T>G
ENST00000682722.1:c.2272T>G ENSP00000508364.1:p.Phe758Val
ENST00000683041.1:c.*294T>G ENSP00000506994.1:n.*294T>G
ENST00000683184.1:c.*1976T>G ENSP00000507757.1:n.*1976T>G
ENST00000683282.1:c.2239T>G ENSP00000506913.1:p.Phe747Val
ENST00000683444.1:c.*1900T>G ENSP00000507553.1:n.*1900T>G
ENST00000683584.1:n.1146T>G
ENST00000683821.1:c.637T>G ENSP00000507651.1:p.Phe213Val
ENST00000683839.1:n.1777T>G
ENST00000684000.1:c.2407T>G ENSP00000506795.1:p.Phe803Val
ENST00000684188.1:c.2134T>G ENSP00000507153.1:p.Phe712Val
ENST00000684349.1:c.2509T>G ENSP00000508067.1:p.Phe837Val
ENST00000684361.1:c.2323T>G ENSP00000507364.1:p.Phe775Val
ENST00000684408.1:c.1966T>G ENSP00000506837.1:p.Phe656Val
ENST00000684429.1:c.2251T>G ENSP00000507224.1:p.Phe751Val
ENST00000684464.1:c.2416T>G ENSP00000508333.1:p.Phe806Val
ENST00000684544.1:c.2242T>G ENSP00000507337.1:p.Phe748Val
ENST00000684559.1:n.1078T>G
ENST00000684760.1:c.2590T>G ENSP00000507696.1:p.Phe864Val
ENST00000684776.1:c.*806T>G ENSP00000507861.1:n.*806T>G
ENST00000355528.9:c.2323T>G MANE Select ENSP00000347719.4:p.Phe775Val
ENST00000355528.8:c.2323T>G ENSP00000347719.4:p.Phe775Val
ENST00000539345.6:c.2323T>G ENSP00000440671.2:p.Phe775Val
ENST00000571618.5:n.501T>G
ENST00000571796.5:n.981T>G
ENST00000574422.1:c.637T>G ENSP00000458599.1:p.Phe213Val
ENST00000574818.5:n.381T>G
ENST00000574886.1:n.707T>G
ENST00000574975.5:c.700T>G ENSP00000461680.1:p.Phe234Val
ENST00000576760.5:c.637T>G ENSP00000460949.1:p.Phe213Val
NM_005993.4:c.2323T>G NP_005984.3:p.Phe775Val
XM_005256396.3:c.2272T>G XP_005256453.1:p.Phe758Val
XM_005256399.3:c.1039T>G XP_005256456.1:p.Phe347Val
XM_005256400.3:c.637T>G XP_005256457.1:p.Phe213Val
XM_005256401.3:c.637T>G XP_005256458.1:p.Phe213Val
XM_005256402.3:c.637T>G XP_005256459.1:p.Phe213Val
XM_005256403.3:c.637T>G XP_005256460.1:p.Phe213Val
XM_005256404.3:c.637T>G XP_005256461.1:p.Phe213Val
XM_006722290.2:c.2242T>G XP_006722353.1:p.Phe748Val
XM_006722291.2:c.1027T>G XP_006722354.1:p.Phe343Val
XM_006722292.2:c.637T>G XP_006722355.1:p.Phe213Val
XM_011523589.1:c.1978T>G XP_011521891.1:p.Phe660Val
XM_011523590.1:c.1966T>G XP_011521892.1:p.Phe656Val
XM_011523591.1:c.1963T>G XP_011521893.1:p.Phe655Val
XM_011523592.1:c.1876T>G XP_011521894.1:p.Phe626Val
XM_011523593.1:c.1570T>G XP_011521895.1:p.Phe524Val
XM_011523594.1:c.1051T>G XP_011521896.1:p.Phe351Val
XM_011523595.1:c.1018T>G XP_011521897.1:p.Phe340Val
XM_011523596.1:c.*54T>G XP_011521898.1:n.*54T>G
XM_011523597.1:c.784T>G XP_011521899.1:p.Phe262Val
XM_011523598.1:c.781T>G XP_011521900.1:p.Phe261Val
XM_011523599.1:c.775T>G XP_011521901.1:p.Phe259Val
XM_011523600.1:c.637T>G XP_011521902.1:p.Phe213Val
XR_430033.2:n.2431T>G
XM_005256396.4:c.2272T>G XP_005256453.1:p.Phe758Val
XM_005256399.5:c.1039T>G XP_005256456.1:p.Phe347Val
XM_005256404.4:c.637T>G XP_005256461.1:p.Phe213Val
XM_006722291.4:c.1027T>G XP_006722354.1:p.Phe343Val
XM_006722292.3:c.637T>G XP_006722355.1:p.Phe213Val
XM_011523589.2:c.1978T>G XP_011521891.1:p.Phe660Val
XM_011523591.2:c.1963T>G XP_011521893.1:p.Phe655Val
XM_011523593.2:c.1570T>G XP_011521895.1:p.Phe524Val
XM_011523594.2:c.1051T>G XP_011521896.1:p.Phe351Val
XM_011523595.3:c.1018T>G XP_011521897.1:p.Phe340Val
XM_011523597.2:c.784T>G XP_011521899.1:p.Phe262Val
XM_011523599.2:c.775T>G XP_011521901.1:p.Phe259Val
XM_011523600.3:c.637T>G XP_011521902.1:p.Phe213Val
XM_017024987.1:c.2134T>G XP_016880476.1:p.Phe712Val
XM_017024989.1:c.685T>G XP_016880478.1:p.Phe229Val
XM_017024990.2:c.637T>G XP_016880479.1:p.Phe213Val
XM_024450899.1:c.637T>G XP_024306667.1:p.Phe213Val
XM_024450900.1:c.637T>G XP_024306668.1:p.Phe213Val
XM_024450901.1:c.637T>G XP_024306669.1:p.Phe213Val
XM_024450902.1:c.637T>G XP_024306670.1:p.Phe213Val
XR_001752597.1:n.2431T>G
XR_001752598.1:n.2431T>G
XR_001752599.1:n.2431T>G
XR_001752600.1:n.2349T>G
NM_005993.5:c.2323T>G MANE Select NP_005984.3:p.Phe775Val