Canonical Allele Identifier: CA2279278082

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924981A= , CM000679.2:g.82924981A=	GRCh38
NC_000017.10:g.80882857A= , CM000679.1:g.80882857A=	GRCh37
NC_000017.9:g.78476146A=	NCBI36
NG_011721.1:g.177918A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1511A=
ENST00000576677.6:n.1432A=
ENST00000681983.1:n.2439A=
ENST00000682099.1:n.1200A=
ENST00000682213.1:c.*274A=	ENSP00000508166.1:n.*274A=
ENST00000682315.1:c.617A=	ENSP00000507232.1:p.Glu206=
ENST00000682479.1:c.2393A=	ENSP00000508214.1:p.Glu798=
ENST00000682610.1:n.1543A=
ENST00000682654.1:c.*274A=	ENSP00000507412.1:n.*274A=
ENST00000682722.1:c.2252A=	ENSP00000508364.1:p.Glu751=
ENST00000683041.1:c.*274A=	ENSP00000506994.1:n.*274A=
ENST00000683184.1:c.*1956A=	ENSP00000507757.1:n.*1956A=
ENST00000683282.1:c.2219A=	ENSP00000506913.1:p.Glu740=
ENST00000683444.1:c.*1880A=	ENSP00000507553.1:n.*1880A=
ENST00000683584.1:n.1126A=
ENST00000683821.1:c.617A=	ENSP00000507651.1:p.Glu206=
ENST00000683839.1:n.1757A=
ENST00000684000.1:c.2387A=	ENSP00000506795.1:p.Glu796=
ENST00000684188.1:c.2114A=	ENSP00000507153.1:p.Glu705=
ENST00000684349.1:c.2489A=	ENSP00000508067.1:p.Glu830=
ENST00000684361.1:c.2303A=	ENSP00000507364.1:p.Glu768=
ENST00000684408.1:c.1946A=	ENSP00000506837.1:p.Glu649=
ENST00000684429.1:c.2231A=	ENSP00000507224.1:p.Glu744=
ENST00000684464.1:c.2396A=	ENSP00000508333.1:p.Glu799=
ENST00000684544.1:c.2222A=	ENSP00000507337.1:p.Glu741=
ENST00000684559.1:n.1058A=
ENST00000684760.1:c.2570A=	ENSP00000507696.1:p.Glu857=
ENST00000684776.1:c.*786A=	ENSP00000507861.1:n.*786A=
ENST00000355528.9:c.2303A= MANE Select	ENSP00000347719.4:p.Glu768=
ENST00000355528.8:c.2303A=	ENSP00000347719.4:p.Glu768=
ENST00000539345.6:c.2303A=	ENSP00000440671.2:p.Glu768=
ENST00000571618.5:n.481A=
ENST00000571796.5:n.961A=
ENST00000574422.1:c.617A=	ENSP00000458599.1:p.Glu206=
ENST00000574818.5:n.361A=
ENST00000574886.1:n.687A=
ENST00000574975.5:c.680A=	ENSP00000461680.1:p.Glu227=
ENST00000576760.5:c.617A=	ENSP00000460949.1:p.Glu206=
NM_005993.4:c.2303A=	NP_005984.3:p.Glu768=
XM_005256396.3:c.2252A=	XP_005256453.1:p.Glu751=
XM_005256399.3:c.1019A=	XP_005256456.1:p.Glu340=
XM_005256400.3:c.617A=	XP_005256457.1:p.Glu206=
XM_005256401.3:c.617A=	XP_005256458.1:p.Glu206=
XM_005256402.3:c.617A=	XP_005256459.1:p.Glu206=
XM_005256403.3:c.617A=	XP_005256460.1:p.Glu206=
XM_005256404.3:c.617A=	XP_005256461.1:p.Glu206=
XM_006722290.2:c.2222A=	XP_006722353.1:p.Glu741=
XM_006722291.2:c.1007A=	XP_006722354.1:p.Glu336=
XM_006722292.2:c.617A=	XP_006722355.1:p.Glu206=
XM_011523589.1:c.1958A=	XP_011521891.1:p.Glu653=
XM_011523590.1:c.1946A=	XP_011521892.1:p.Glu649=
XM_011523591.1:c.1943A=	XP_011521893.1:p.Glu648=
XM_011523592.1:c.1856A=	XP_011521894.1:p.Glu619=
XM_011523593.1:c.1550A=	XP_011521895.1:p.Glu517=
XM_011523594.1:c.1031A=	XP_011521896.1:p.Glu344=
XM_011523595.1:c.998A=	XP_011521897.1:p.Glu333=
XM_011523596.1:c.*34A=	XP_011521898.1:n.*34A=
XM_011523597.1:c.764A=	XP_011521899.1:p.Glu255=
XM_011523598.1:c.761A=	XP_011521900.1:p.Glu254=
XM_011523599.1:c.755A=	XP_011521901.1:p.Glu252=
XM_011523600.1:c.617A=	XP_011521902.1:p.Glu206=
XR_430033.2:n.2411A=
XM_005256396.4:c.2252A=	XP_005256453.1:p.Glu751=
XM_005256399.5:c.1019A=	XP_005256456.1:p.Glu340=
XM_005256404.4:c.617A=	XP_005256461.1:p.Glu206=
XM_006722291.4:c.1007A=	XP_006722354.1:p.Glu336=
XM_006722292.3:c.617A=	XP_006722355.1:p.Glu206=
XM_011523589.2:c.1958A=	XP_011521891.1:p.Glu653=
XM_011523591.2:c.1943A=	XP_011521893.1:p.Glu648=
XM_011523593.2:c.1550A=	XP_011521895.1:p.Glu517=
XM_011523594.2:c.1031A=	XP_011521896.1:p.Glu344=
XM_011523595.3:c.998A=	XP_011521897.1:p.Glu333=
XM_011523597.2:c.764A=	XP_011521899.1:p.Glu255=
XM_011523599.2:c.755A=	XP_011521901.1:p.Glu252=
XM_011523600.3:c.617A=	XP_011521902.1:p.Glu206=
XM_017024987.1:c.2114A=	XP_016880476.1:p.Glu705=
XM_017024989.1:c.665A=	XP_016880478.1:p.Glu222=
XM_017024990.2:c.617A=	XP_016880479.1:p.Glu206=
XM_024450899.1:c.617A=	XP_024306667.1:p.Glu206=
XM_024450900.1:c.617A=	XP_024306668.1:p.Glu206=
XM_024450901.1:c.617A=	XP_024306669.1:p.Glu206=
XM_024450902.1:c.617A=	XP_024306670.1:p.Glu206=
XR_001752597.1:n.2411A=
XR_001752598.1:n.2411A=
XR_001752599.1:n.2411A=
XR_001752600.1:n.2329A=
NM_005993.5:c.2303A= MANE Select	NP_005984.3:p.Glu768=