Canonical Allele Identifier: CA401633689
Gene: TBCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82925056A>G , CM000679.2:g.82925056A>G GRCh38
NC_000017.10:g.80882932A>G , CM000679.1:g.80882932A>G GRCh37
NC_000017.9:g.78476221A>G NCBI36
NG_011721.1:g.177993A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000574886.2:n.1586A>G
ENST00000576677.6:n.1507A>G
ENST00000681983.1:n.2514A>G
ENST00000682099.1:n.1275A>G
ENST00000682213.1:c.*349A>G ENSP00000508166.1:n.*349A>G
ENST00000682315.1:c.692A>G ENSP00000507232.1:p.Gln231Arg
ENST00000682479.1:c.2468A>G ENSP00000508214.1:p.Gln823Arg
ENST00000682610.1:n.1618A>G
ENST00000682654.1:c.*349A>G ENSP00000507412.1:n.*349A>G
ENST00000682722.1:c.2327A>G ENSP00000508364.1:p.Gln776Arg
ENST00000683041.1:c.*349A>G ENSP00000506994.1:n.*349A>G
ENST00000683184.1:c.*2031A>G ENSP00000507757.1:n.*2031A>G
ENST00000683282.1:c.2294A>G ENSP00000506913.1:p.Gln765Arg
ENST00000683444.1:c.*1955A>G ENSP00000507553.1:n.*1955A>G
ENST00000683584.1:n.1201A>G
ENST00000683821.1:c.692A>G ENSP00000507651.1:p.Gln231Arg
ENST00000683839.1:n.1832A>G
ENST00000684000.1:c.2462A>G ENSP00000506795.1:p.Gln821Arg
ENST00000684188.1:c.2189A>G ENSP00000507153.1:p.Gln730Arg
ENST00000684349.1:c.2564A>G ENSP00000508067.1:p.Gln855Arg
ENST00000684361.1:c.2378A>G ENSP00000507364.1:p.Gln793Arg
ENST00000684408.1:c.2021A>G ENSP00000506837.1:p.Gln674Arg
ENST00000684429.1:c.2306A>G ENSP00000507224.1:p.Gln769Arg
ENST00000684464.1:c.2471A>G ENSP00000508333.1:p.Gln824Arg
ENST00000684544.1:c.2297A>G ENSP00000507337.1:p.Gln766Arg
ENST00000684559.1:n.1133A>G
ENST00000684760.1:c.2645A>G ENSP00000507696.1:p.Gln882Arg
ENST00000684776.1:c.*861A>G ENSP00000507861.1:n.*861A>G
ENST00000355528.9:c.2378A>G MANE Select ENSP00000347719.4:p.Gln793Arg
ENST00000355528.8:c.2378A>G ENSP00000347719.4:p.Gln793Arg
ENST00000539345.6:c.2378A>G ENSP00000440671.2:p.Gln793Arg
ENST00000571618.5:n.556A>G
ENST00000571796.5:n.1036A>G
ENST00000574422.1:c.692A>G ENSP00000458599.1:p.Gln231Arg
ENST00000574818.5:n.436A>G
ENST00000574886.1:n.762A>G
ENST00000574975.5:c.755A>G
ENST00000576760.5:c.692A>G ENSP00000460949.1:p.Gln231Arg
NM_005993.4:c.2378A>G NP_005984.3:p.Gln793Arg
XM_005256396.3:c.2327A>G XP_005256453.1:p.Gln776Arg
XM_005256399.3:c.1094A>G XP_005256456.1:p.Gln365Arg
XM_005256400.3:c.692A>G XP_005256457.1:p.Gln231Arg
XM_005256401.3:c.692A>G XP_005256458.1:p.Gln231Arg
XM_005256402.3:c.692A>G XP_005256459.1:p.Gln231Arg
XM_005256403.3:c.692A>G XP_005256460.1:p.Gln231Arg
XM_005256404.3:c.692A>G XP_005256461.1:p.Gln231Arg
XM_006722290.2:c.2297A>G XP_006722353.1:p.Gln766Arg
XM_006722291.2:c.1082A>G XP_006722354.1:p.Gln361Arg
XM_006722292.2:c.692A>G XP_006722355.1:p.Gln231Arg
XM_011523589.1:c.2033A>G XP_011521891.1:p.Gln678Arg
XM_011523590.1:c.2021A>G XP_011521892.1:p.Gln674Arg
XM_011523591.1:c.2018A>G XP_011521893.1:p.Gln673Arg
XM_011523592.1:c.1931A>G XP_011521894.1:p.Gln644Arg
XM_011523593.1:c.1625A>G XP_011521895.1:p.Gln542Arg
XM_011523594.1:c.1106A>G XP_011521896.1:p.Gln369Arg
XM_011523595.1:c.1073A>G XP_011521897.1:p.Gln358Arg
XM_011523597.1:c.839A>G XP_011521899.1:p.Gln280Arg
XM_011523598.1:c.836A>G XP_011521900.1:p.Gln279Arg
XM_011523599.1:c.830A>G XP_011521901.1:p.Gln277Arg
XM_011523600.1:c.692A>G XP_011521902.1:p.Gln231Arg
XR_430033.2:n.2486A>G
XM_005256396.4:c.2327A>G XP_005256453.1:p.Gln776Arg
XM_005256399.5:c.1094A>G XP_005256456.1:p.Gln365Arg
XM_005256404.4:c.692A>G XP_005256461.1:p.Gln231Arg
XM_006722291.4:c.1082A>G XP_006722354.1:p.Gln361Arg
XM_006722292.3:c.692A>G XP_006722355.1:p.Gln231Arg
XM_011523589.2:c.2033A>G XP_011521891.1:p.Gln678Arg
XM_011523591.2:c.2018A>G XP_011521893.1:p.Gln673Arg
XM_011523593.2:c.1625A>G XP_011521895.1:p.Gln542Arg
XM_011523594.2:c.1106A>G XP_011521896.1:p.Gln369Arg
XM_011523595.3:c.1073A>G XP_011521897.1:p.Gln358Arg
XM_011523597.2:c.839A>G XP_011521899.1:p.Gln280Arg
XM_011523599.2:c.830A>G XP_011521901.1:p.Gln277Arg
XM_011523600.3:c.692A>G XP_011521902.1:p.Gln231Arg
XM_017024987.1:c.2189A>G XP_016880476.1:p.Gln730Arg
XM_017024989.1:c.740A>G XP_016880478.1:p.Gln247Arg
XM_017024990.2:c.692A>G XP_016880479.1:p.Gln231Arg
XM_024450899.1:c.692A>G XP_024306667.1:p.Gln231Arg
XM_024450900.1:c.692A>G XP_024306668.1:p.Gln231Arg
XM_024450901.1:c.692A>G XP_024306669.1:p.Gln231Arg
XM_024450902.1:c.692A>G XP_024306670.1:p.Gln231Arg
XR_001752597.1:n.2486A>G
XR_001752598.1:n.2486A>G
XR_001752599.1:n.2486A>G
XR_001752600.1:n.2404A>G
NM_005993.5:c.2378A>G MANE Select NP_005984.3:p.Gln793Arg