Canonical Allele Identifier: CA401633441
Gene: TBCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82924995T>G , CM000679.2:g.82924995T>G GRCh38
NC_000017.10:g.80882871T>G , CM000679.1:g.80882871T>G GRCh37
NC_000017.9:g.78476160T>G NCBI36
NG_011721.1:g.177932T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000574886.2:n.1525T>G
ENST00000576677.6:n.1446T>G
ENST00000681983.1:n.2453T>G
ENST00000682099.1:n.1214T>G
ENST00000682213.1:c.*288T>G ENSP00000508166.1:n.*288T>G
ENST00000682315.1:c.631T>G ENSP00000507232.1:p.Cys211Gly
ENST00000682479.1:c.2407T>G ENSP00000508214.1:p.Cys803Gly
ENST00000682610.1:n.1557T>G
ENST00000682654.1:c.*288T>G ENSP00000507412.1:n.*288T>G
ENST00000682722.1:c.2266T>G ENSP00000508364.1:p.Cys756Gly
ENST00000683041.1:c.*288T>G ENSP00000506994.1:n.*288T>G
ENST00000683184.1:c.*1970T>G ENSP00000507757.1:n.*1970T>G
ENST00000683282.1:c.2233T>G ENSP00000506913.1:p.Cys745Gly
ENST00000683444.1:c.*1894T>G ENSP00000507553.1:n.*1894T>G
ENST00000683584.1:n.1140T>G
ENST00000683821.1:c.631T>G ENSP00000507651.1:p.Cys211Gly
ENST00000683839.1:n.1771T>G
ENST00000684000.1:c.2401T>G ENSP00000506795.1:p.Cys801Gly
ENST00000684188.1:c.2128T>G ENSP00000507153.1:p.Cys710Gly
ENST00000684349.1:c.2503T>G ENSP00000508067.1:p.Cys835Gly
ENST00000684361.1:c.2317T>G ENSP00000507364.1:p.Cys773Gly
ENST00000684408.1:c.1960T>G ENSP00000506837.1:p.Cys654Gly
ENST00000684429.1:c.2245T>G ENSP00000507224.1:p.Cys749Gly
ENST00000684464.1:c.2410T>G ENSP00000508333.1:p.Cys804Gly
ENST00000684544.1:c.2236T>G ENSP00000507337.1:p.Cys746Gly
ENST00000684559.1:n.1072T>G
ENST00000684760.1:c.2584T>G ENSP00000507696.1:p.Cys862Gly
ENST00000684776.1:c.*800T>G ENSP00000507861.1:n.*800T>G
ENST00000355528.9:c.2317T>G MANE Select ENSP00000347719.4:p.Cys773Gly
ENST00000355528.8:c.2317T>G ENSP00000347719.4:p.Cys773Gly
ENST00000539345.6:c.2317T>G ENSP00000440671.2:p.Cys773Gly
ENST00000571618.5:n.495T>G
ENST00000571796.5:n.975T>G
ENST00000574422.1:c.631T>G ENSP00000458599.1:p.Cys211Gly
ENST00000574818.5:n.375T>G
ENST00000574886.1:n.701T>G
ENST00000574975.5:c.694T>G ENSP00000461680.1:p.Cys232Gly
ENST00000576760.5:c.631T>G ENSP00000460949.1:p.Cys211Gly
NM_005993.4:c.2317T>G NP_005984.3:p.Cys773Gly
XM_005256396.3:c.2266T>G XP_005256453.1:p.Cys756Gly
XM_005256399.3:c.1033T>G XP_005256456.1:p.Cys345Gly
XM_005256400.3:c.631T>G XP_005256457.1:p.Cys211Gly
XM_005256401.3:c.631T>G XP_005256458.1:p.Cys211Gly
XM_005256402.3:c.631T>G XP_005256459.1:p.Cys211Gly
XM_005256403.3:c.631T>G XP_005256460.1:p.Cys211Gly
XM_005256404.3:c.631T>G XP_005256461.1:p.Cys211Gly
XM_006722290.2:c.2236T>G XP_006722353.1:p.Cys746Gly
XM_006722291.2:c.1021T>G XP_006722354.1:p.Cys341Gly
XM_006722292.2:c.631T>G XP_006722355.1:p.Cys211Gly
XM_011523589.1:c.1972T>G XP_011521891.1:p.Cys658Gly
XM_011523590.1:c.1960T>G XP_011521892.1:p.Cys654Gly
XM_011523591.1:c.1957T>G XP_011521893.1:p.Cys653Gly
XM_011523592.1:c.1870T>G XP_011521894.1:p.Cys624Gly
XM_011523593.1:c.1564T>G XP_011521895.1:p.Cys522Gly
XM_011523594.1:c.1045T>G XP_011521896.1:p.Cys349Gly
XM_011523595.1:c.1012T>G XP_011521897.1:p.Cys338Gly
XM_011523596.1:c.*48T>G XP_011521898.1:n.*48T>G
XM_011523597.1:c.778T>G XP_011521899.1:p.Cys260Gly
XM_011523598.1:c.775T>G XP_011521900.1:p.Cys259Gly
XM_011523599.1:c.769T>G XP_011521901.1:p.Cys257Gly
XM_011523600.1:c.631T>G XP_011521902.1:p.Cys211Gly
XR_430033.2:n.2425T>G
XM_005256396.4:c.2266T>G XP_005256453.1:p.Cys756Gly
XM_005256399.5:c.1033T>G XP_005256456.1:p.Cys345Gly
XM_005256404.4:c.631T>G XP_005256461.1:p.Cys211Gly
XM_006722291.4:c.1021T>G XP_006722354.1:p.Cys341Gly
XM_006722292.3:c.631T>G XP_006722355.1:p.Cys211Gly
XM_011523589.2:c.1972T>G XP_011521891.1:p.Cys658Gly
XM_011523591.2:c.1957T>G XP_011521893.1:p.Cys653Gly
XM_011523593.2:c.1564T>G XP_011521895.1:p.Cys522Gly
XM_011523594.2:c.1045T>G XP_011521896.1:p.Cys349Gly
XM_011523595.3:c.1012T>G XP_011521897.1:p.Cys338Gly
XM_011523597.2:c.778T>G XP_011521899.1:p.Cys260Gly
XM_011523599.2:c.769T>G XP_011521901.1:p.Cys257Gly
XM_011523600.3:c.631T>G XP_011521902.1:p.Cys211Gly
XM_017024987.1:c.2128T>G XP_016880476.1:p.Cys710Gly
XM_017024989.1:c.679T>G XP_016880478.1:p.Cys227Gly
XM_017024990.2:c.631T>G XP_016880479.1:p.Cys211Gly
XM_024450899.1:c.631T>G XP_024306667.1:p.Cys211Gly
XM_024450900.1:c.631T>G XP_024306668.1:p.Cys211Gly
XM_024450901.1:c.631T>G XP_024306669.1:p.Cys211Gly
XM_024450902.1:c.631T>G XP_024306670.1:p.Cys211Gly
XR_001752597.1:n.2425T>G
XR_001752598.1:n.2425T>G
XR_001752599.1:n.2425T>G
XR_001752600.1:n.2343T>G
NM_005993.5:c.2317T>G MANE Select NP_005984.3:p.Cys773Gly