Canonical Allele Identifier: CA2279278090

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924992C= , CM000679.2:g.82924992C=	GRCh38
NC_000017.10:g.80882868C= , CM000679.1:g.80882868C=	GRCh37
NC_000017.9:g.78476157C=	NCBI36
NG_011721.1:g.177929C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1522C=
ENST00000576677.6:n.1443C=
ENST00000681983.1:n.2450C=
ENST00000682099.1:n.1211C=
ENST00000682213.1:c.*285C=	ENSP00000508166.1:n.*285C=
ENST00000682315.1:c.628C=	ENSP00000507232.1:p.Arg210=
ENST00000682479.1:c.2404C=	ENSP00000508214.1:p.Arg802=
ENST00000682610.1:n.1554C=
ENST00000682654.1:c.*285C=	ENSP00000507412.1:n.*285C=
ENST00000682722.1:c.2263C=	ENSP00000508364.1:p.Arg755=
ENST00000683041.1:c.*285C=	ENSP00000506994.1:n.*285C=
ENST00000683184.1:c.*1967C=	ENSP00000507757.1:n.*1967C=
ENST00000683282.1:c.2230C=	ENSP00000506913.1:p.Arg744=
ENST00000683444.1:c.*1891C=	ENSP00000507553.1:n.*1891C=
ENST00000683584.1:n.1137C=
ENST00000683821.1:c.628C=	ENSP00000507651.1:p.Arg210=
ENST00000683839.1:n.1768C=
ENST00000684000.1:c.2398C=	ENSP00000506795.1:p.Arg800=
ENST00000684188.1:c.2125C=	ENSP00000507153.1:p.Arg709=
ENST00000684349.1:c.2500C=	ENSP00000508067.1:p.Arg834=
ENST00000684361.1:c.2314C=	ENSP00000507364.1:p.Arg772=
ENST00000684408.1:c.1957C=	ENSP00000506837.1:p.Arg653=
ENST00000684429.1:c.2242C=	ENSP00000507224.1:p.Arg748=
ENST00000684464.1:c.2407C=	ENSP00000508333.1:p.Arg803=
ENST00000684544.1:c.2233C=	ENSP00000507337.1:p.Arg745=
ENST00000684559.1:n.1069C=
ENST00000684760.1:c.2581C=	ENSP00000507696.1:p.Arg861=
ENST00000684776.1:c.*797C=	ENSP00000507861.1:n.*797C=
ENST00000355528.9:c.2314C= MANE Select	ENSP00000347719.4:p.Arg772=
ENST00000355528.8:c.2314C=	ENSP00000347719.4:p.Arg772=
ENST00000539345.6:c.2314C=	ENSP00000440671.2:p.Arg772=
ENST00000571618.5:n.492C=
ENST00000571796.5:n.972C=
ENST00000574422.1:c.628C=	ENSP00000458599.1:p.Arg210=
ENST00000574818.5:n.372C=
ENST00000574886.1:n.698C=
ENST00000574975.5:c.691C=	ENSP00000461680.1:p.Arg231=
ENST00000576760.5:c.628C=	ENSP00000460949.1:p.Arg210=
NM_005993.4:c.2314C=	NP_005984.3:p.Arg772=
XM_005256396.3:c.2263C=	XP_005256453.1:p.Arg755=
XM_005256399.3:c.1030C=	XP_005256456.1:p.Arg344=
XM_005256400.3:c.628C=	XP_005256457.1:p.Arg210=
XM_005256401.3:c.628C=	XP_005256458.1:p.Arg210=
XM_005256402.3:c.628C=	XP_005256459.1:p.Arg210=
XM_005256403.3:c.628C=	XP_005256460.1:p.Arg210=
XM_005256404.3:c.628C=	XP_005256461.1:p.Arg210=
XM_006722290.2:c.2233C=	XP_006722353.1:p.Arg745=
XM_006722291.2:c.1018C=	XP_006722354.1:p.Arg340=
XM_006722292.2:c.628C=	XP_006722355.1:p.Arg210=
XM_011523589.1:c.1969C=	XP_011521891.1:p.Arg657=
XM_011523590.1:c.1957C=	XP_011521892.1:p.Arg653=
XM_011523591.1:c.1954C=	XP_011521893.1:p.Arg652=
XM_011523592.1:c.1867C=	XP_011521894.1:p.Arg623=
XM_011523593.1:c.1561C=	XP_011521895.1:p.Arg521=
XM_011523594.1:c.1042C=	XP_011521896.1:p.Arg348=
XM_011523595.1:c.1009C=	XP_011521897.1:p.Arg337=
XM_011523596.1:c.*45C=	XP_011521898.1:n.*45C=
XM_011523597.1:c.775C=	XP_011521899.1:p.Arg259=
XM_011523598.1:c.772C=	XP_011521900.1:p.Arg258=
XM_011523599.1:c.766C=	XP_011521901.1:p.Arg256=
XM_011523600.1:c.628C=	XP_011521902.1:p.Arg210=
XR_430033.2:n.2422C=
XM_005256396.4:c.2263C=	XP_005256453.1:p.Arg755=
XM_005256399.5:c.1030C=	XP_005256456.1:p.Arg344=
XM_005256404.4:c.628C=	XP_005256461.1:p.Arg210=
XM_006722291.4:c.1018C=	XP_006722354.1:p.Arg340=
XM_006722292.3:c.628C=	XP_006722355.1:p.Arg210=
XM_011523589.2:c.1969C=	XP_011521891.1:p.Arg657=
XM_011523591.2:c.1954C=	XP_011521893.1:p.Arg652=
XM_011523593.2:c.1561C=	XP_011521895.1:p.Arg521=
XM_011523594.2:c.1042C=	XP_011521896.1:p.Arg348=
XM_011523595.3:c.1009C=	XP_011521897.1:p.Arg337=
XM_011523597.2:c.775C=	XP_011521899.1:p.Arg259=
XM_011523599.2:c.766C=	XP_011521901.1:p.Arg256=
XM_011523600.3:c.628C=	XP_011521902.1:p.Arg210=
XM_017024987.1:c.2125C=	XP_016880476.1:p.Arg709=
XM_017024989.1:c.676C=	XP_016880478.1:p.Arg226=
XM_017024990.2:c.628C=	XP_016880479.1:p.Arg210=
XM_024450899.1:c.628C=	XP_024306667.1:p.Arg210=
XM_024450900.1:c.628C=	XP_024306668.1:p.Arg210=
XM_024450901.1:c.628C=	XP_024306669.1:p.Arg210=
XM_024450902.1:c.628C=	XP_024306670.1:p.Arg210=
XR_001752597.1:n.2422C=
XR_001752598.1:n.2422C=
XR_001752599.1:n.2422C=
XR_001752600.1:n.2340C=
NM_005993.5:c.2314C= MANE Select	NP_005984.3:p.Arg772=