Canonical Allele Identifier: CA8863110
Gene: TBCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82927280A>G , CM000679.2:g.82927280A>G GRCh38
NC_000017.10:g.80885156A>G , CM000679.1:g.80885156A>G GRCh37
NC_000017.9:g.78478445A>G NCBI36
NG_011721.1:g.180217A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005993.5:c.2566A>G MANE Select NP_005984.3:p.Met856Val
ENST00000355528.9:c.2566A>G MANE Select ENSP00000347719.4:p.Met856Val
NM_005993.4:c.2566A>G NP_005984.3:p.Met856Val
ENST00000355528.8:c.2566A>G ENSP00000347719.4:p.Met856Val
ENST00000539345.6:c.2566A>G ENSP00000440671.2:p.Met856Val
ENST00000570679.1:n.415A>G
ENST00000571618.5:n.744A>G
ENST00000571796.5:n.1224A>G
ENST00000574818.5:n.624A>G
ENST00000574886.2:n.1774A>G
ENST00000576677.6:n.1695A>G
ENST00000681983.1:n.2702A>G
ENST00000682099.1:n.1463A>G
ENST00000682213.1:c.*537A>G ENSP00000508166.1:n.*537A>G
ENST00000682315.1:c.880A>G ENSP00000507232.1:p.Met294Val
ENST00000682479.1:c.2656A>G ENSP00000508214.1:p.Met886Val
ENST00000682610.1:n.1806A>G
ENST00000682654.1:c.*537A>G ENSP00000507412.1:n.*537A>G
ENST00000682722.1:c.2515A>G ENSP00000508364.1:p.Met839Val
ENST00000683041.1:c.*537A>G ENSP00000506994.1:n.*537A>G
ENST00000683184.1:c.*2219A>G ENSP00000507757.1:n.*2219A>G
ENST00000683282.1:c.2482A>G ENSP00000506913.1:p.Met828Val
ENST00000683444.1:c.*2143A>G ENSP00000507553.1:n.*2143A>G
ENST00000683584.1:n.1389A>G
ENST00000683821.1:c.880A>G ENSP00000507651.1:p.Met294Val
ENST00000683839.1:n.2020A>G
ENST00000684000.1:c.2650A>G ENSP00000506795.1:p.Met884Val
ENST00000684188.1:c.2377A>G ENSP00000507153.1:p.Met793Val
ENST00000684349.1:c.2752A>G ENSP00000508067.1:p.Met918Val
ENST00000684361.1:c.2566A>G ENSP00000507364.1:p.Met856Val
ENST00000684408.1:c.2209A>G ENSP00000506837.1:p.Met737Val
ENST00000684429.1:c.2494A>G ENSP00000507224.1:p.Met832Val
ENST00000684464.1:c.2659A>G ENSP00000508333.1:p.Met887Val
ENST00000684544.1:c.2485A>G ENSP00000507337.1:p.Met829Val
ENST00000684559.1:n.1321A>G
ENST00000684760.1:c.2833A>G ENSP00000507696.1:p.Met945Val
ENST00000684776.1:c.*1049A>G ENSP00000507861.1:n.*1049A>G
XM_005256396.3:c.2515A>G XP_005256453.1:p.Met839Val
XM_005256396.4:c.2515A>G XP_005256453.1:p.Met839Val
XM_005256399.3:c.1282A>G XP_005256456.1:p.Met428Val
XM_005256399.5:c.1282A>G XP_005256456.1:p.Met428Val
XM_005256400.3:c.880A>G XP_005256457.1:p.Met294Val
XM_005256401.3:c.880A>G XP_005256458.1:p.Met294Val
XM_005256402.3:c.880A>G XP_005256459.1:p.Met294Val
XM_005256403.3:c.880A>G XP_005256460.1:p.Met294Val
XM_005256404.3:c.880A>G XP_005256461.1:p.Met294Val
XM_005256404.4:c.880A>G XP_005256461.1:p.Met294Val
XM_006722290.2:c.2485A>G XP_006722353.1:p.Met829Val
XM_006722291.2:c.1270A>G XP_006722354.1:p.Met424Val
XM_006722291.4:c.1270A>G XP_006722354.1:p.Met424Val
XM_006722292.2:c.880A>G XP_006722355.1:p.Met294Val
XM_006722292.3:c.880A>G XP_006722355.1:p.Met294Val
XM_011523589.1:c.2221A>G XP_011521891.1:p.Met741Val
XM_011523589.2:c.2221A>G XP_011521891.1:p.Met741Val
XM_011523590.1:c.2209A>G XP_011521892.1:p.Met737Val
XM_011523591.1:c.2206A>G XP_011521893.1:p.Met736Val
XM_011523591.2:c.2206A>G XP_011521893.1:p.Met736Val
XM_011523592.1:c.2119A>G XP_011521894.1:p.Met707Val
XM_011523593.1:c.1813A>G XP_011521895.1:p.Met605Val
XM_011523593.2:c.1813A>G XP_011521895.1:p.Met605Val
XM_011523594.1:c.1294A>G XP_011521896.1:p.Met432Val
XM_011523594.2:c.1294A>G XP_011521896.1:p.Met432Val
XM_011523595.1:c.1261A>G XP_011521897.1:p.Met421Val
XM_011523595.3:c.1261A>G XP_011521897.1:p.Met421Val
XM_011523597.1:c.1027A>G XP_011521899.1:p.Met343Val
XM_011523597.2:c.1027A>G XP_011521899.1:p.Met343Val
XM_011523598.1:c.1024A>G XP_011521900.1:p.Met342Val
XM_011523599.1:c.1018A>G XP_011521901.1:p.Met340Val
XM_011523599.2:c.1018A>G XP_011521901.1:p.Met340Val
XM_011523600.1:c.880A>G XP_011521902.1:p.Met294Val
XM_011523600.3:c.880A>G XP_011521902.1:p.Met294Val
XM_017024987.1:c.2377A>G XP_016880476.1:p.Met793Val
XM_017024989.1:c.928A>G XP_016880478.1:p.Met310Val
XM_017024990.2:c.880A>G XP_016880479.1:p.Met294Val
XM_024450899.1:c.880A>G XP_024306667.1:p.Met294Val
XM_024450900.1:c.880A>G XP_024306668.1:p.Met294Val
XM_024450901.1:c.880A>G XP_024306669.1:p.Met294Val
XM_024450902.1:c.880A>G XP_024306670.1:p.Met294Val
XR_001752597.1:n.2674A>G
XR_001752598.1:n.2674A>G
XR_001752599.1:n.2674A>G
XR_001752600.1:n.2592A>G
XR_430033.2:n.2674A>G