Canonical Allele Identifier: CA2279278092

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924994C= , CM000679.2:g.82924994C=	GRCh38
NC_000017.10:g.80882870C= , CM000679.1:g.80882870C=	GRCh37
NC_000017.9:g.78476159C=	NCBI36
NG_011721.1:g.177931C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1524C=
ENST00000576677.6:n.1445C=
ENST00000681983.1:n.2452C=
ENST00000682099.1:n.1213C=
ENST00000682213.1:c.*287C=	ENSP00000508166.1:n.*287C=
ENST00000682315.1:c.630C=	ENSP00000507232.1:p.Arg210=
ENST00000682479.1:c.2406C=	ENSP00000508214.1:p.Arg802=
ENST00000682610.1:n.1556C=
ENST00000682654.1:c.*287C=	ENSP00000507412.1:n.*287C=
ENST00000682722.1:c.2265C=	ENSP00000508364.1:p.Arg755=
ENST00000683041.1:c.*287C=	ENSP00000506994.1:n.*287C=
ENST00000683184.1:c.*1969C=	ENSP00000507757.1:n.*1969C=
ENST00000683282.1:c.2232C=	ENSP00000506913.1:p.Arg744=
ENST00000683444.1:c.*1893C=	ENSP00000507553.1:n.*1893C=
ENST00000683584.1:n.1139C=
ENST00000683821.1:c.630C=	ENSP00000507651.1:p.Arg210=
ENST00000683839.1:n.1770C=
ENST00000684000.1:c.2400C=	ENSP00000506795.1:p.Arg800=
ENST00000684188.1:c.2127C=	ENSP00000507153.1:p.Arg709=
ENST00000684349.1:c.2502C=	ENSP00000508067.1:p.Arg834=
ENST00000684361.1:c.2316C=	ENSP00000507364.1:p.Arg772=
ENST00000684408.1:c.1959C=	ENSP00000506837.1:p.Arg653=
ENST00000684429.1:c.2244C=	ENSP00000507224.1:p.Arg748=
ENST00000684464.1:c.2409C=	ENSP00000508333.1:p.Arg803=
ENST00000684544.1:c.2235C=	ENSP00000507337.1:p.Arg745=
ENST00000684559.1:n.1071C=
ENST00000684760.1:c.2583C=	ENSP00000507696.1:p.Arg861=
ENST00000684776.1:c.*799C=	ENSP00000507861.1:n.*799C=
ENST00000355528.9:c.2316C= MANE Select	ENSP00000347719.4:p.Arg772=
ENST00000355528.8:c.2316C=	ENSP00000347719.4:p.Arg772=
ENST00000539345.6:c.2316C=	ENSP00000440671.2:p.Arg772=
ENST00000571618.5:n.494C=
ENST00000571796.5:n.974C=
ENST00000574422.1:c.630C=	ENSP00000458599.1:p.Arg210=
ENST00000574818.5:n.374C=
ENST00000574886.1:n.700C=
ENST00000574975.5:c.693C=	ENSP00000461680.1:p.Arg231=
ENST00000576760.5:c.630C=	ENSP00000460949.1:p.Arg210=
NM_005993.4:c.2316C=	NP_005984.3:p.Arg772=
XM_005256396.3:c.2265C=	XP_005256453.1:p.Arg755=
XM_005256399.3:c.1032C=	XP_005256456.1:p.Arg344=
XM_005256400.3:c.630C=	XP_005256457.1:p.Arg210=
XM_005256401.3:c.630C=	XP_005256458.1:p.Arg210=
XM_005256402.3:c.630C=	XP_005256459.1:p.Arg210=
XM_005256403.3:c.630C=	XP_005256460.1:p.Arg210=
XM_005256404.3:c.630C=	XP_005256461.1:p.Arg210=
XM_006722290.2:c.2235C=	XP_006722353.1:p.Arg745=
XM_006722291.2:c.1020C=	XP_006722354.1:p.Arg340=
XM_006722292.2:c.630C=	XP_006722355.1:p.Arg210=
XM_011523589.1:c.1971C=	XP_011521891.1:p.Arg657=
XM_011523590.1:c.1959C=	XP_011521892.1:p.Arg653=
XM_011523591.1:c.1956C=	XP_011521893.1:p.Arg652=
XM_011523592.1:c.1869C=	XP_011521894.1:p.Arg623=
XM_011523593.1:c.1563C=	XP_011521895.1:p.Arg521=
XM_011523594.1:c.1044C=	XP_011521896.1:p.Arg348=
XM_011523595.1:c.1011C=	XP_011521897.1:p.Arg337=
XM_011523596.1:c.*47C=	XP_011521898.1:n.*47C=
XM_011523597.1:c.777C=	XP_011521899.1:p.Arg259=
XM_011523598.1:c.774C=	XP_011521900.1:p.Arg258=
XM_011523599.1:c.768C=	XP_011521901.1:p.Arg256=
XM_011523600.1:c.630C=	XP_011521902.1:p.Arg210=
XR_430033.2:n.2424C=
XM_005256396.4:c.2265C=	XP_005256453.1:p.Arg755=
XM_005256399.5:c.1032C=	XP_005256456.1:p.Arg344=
XM_005256404.4:c.630C=	XP_005256461.1:p.Arg210=
XM_006722291.4:c.1020C=	XP_006722354.1:p.Arg340=
XM_006722292.3:c.630C=	XP_006722355.1:p.Arg210=
XM_011523589.2:c.1971C=	XP_011521891.1:p.Arg657=
XM_011523591.2:c.1956C=	XP_011521893.1:p.Arg652=
XM_011523593.2:c.1563C=	XP_011521895.1:p.Arg521=
XM_011523594.2:c.1044C=	XP_011521896.1:p.Arg348=
XM_011523595.3:c.1011C=	XP_011521897.1:p.Arg337=
XM_011523597.2:c.777C=	XP_011521899.1:p.Arg259=
XM_011523599.2:c.768C=	XP_011521901.1:p.Arg256=
XM_011523600.3:c.630C=	XP_011521902.1:p.Arg210=
XM_017024987.1:c.2127C=	XP_016880476.1:p.Arg709=
XM_017024989.1:c.678C=	XP_016880478.1:p.Arg226=
XM_017024990.2:c.630C=	XP_016880479.1:p.Arg210=
XM_024450899.1:c.630C=	XP_024306667.1:p.Arg210=
XM_024450900.1:c.630C=	XP_024306668.1:p.Arg210=
XM_024450901.1:c.630C=	XP_024306669.1:p.Arg210=
XM_024450902.1:c.630C=	XP_024306670.1:p.Arg210=
XR_001752597.1:n.2424C=
XR_001752598.1:n.2424C=
XR_001752599.1:n.2424C=
XR_001752600.1:n.2342C=
NM_005993.5:c.2316C= MANE Select	NP_005984.3:p.Arg772=