Canonical Allele Identifier: CA2279278137

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925033C= , CM000679.2:g.82925033C=	GRCh38
NC_000017.10:g.80882909C= , CM000679.1:g.80882909C=	GRCh37
NC_000017.9:g.78476198C=	NCBI36
NG_011721.1:g.177970C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1563C=
ENST00000576677.6:n.1484C=
ENST00000681983.1:n.2491C=
ENST00000682099.1:n.1252C=
ENST00000682213.1:c.*326C=	ENSP00000508166.1:n.*326C=
ENST00000682315.1:c.669C=	ENSP00000507232.1:p.Phe223=
ENST00000682479.1:c.2445C=	ENSP00000508214.1:p.Phe815=
ENST00000682610.1:n.1595C=
ENST00000682654.1:c.*326C=	ENSP00000507412.1:n.*326C=
ENST00000682722.1:c.2304C=	ENSP00000508364.1:p.Phe768=
ENST00000683041.1:c.*326C=	ENSP00000506994.1:n.*326C=
ENST00000683184.1:c.*2008C=	ENSP00000507757.1:n.*2008C=
ENST00000683282.1:c.2271C=	ENSP00000506913.1:p.Phe757=
ENST00000683444.1:c.*1932C=	ENSP00000507553.1:n.*1932C=
ENST00000683584.1:n.1178C=
ENST00000683821.1:c.669C=	ENSP00000507651.1:p.Phe223=
ENST00000683839.1:n.1809C=
ENST00000684000.1:c.2439C=	ENSP00000506795.1:p.Phe813=
ENST00000684188.1:c.2166C=	ENSP00000507153.1:p.Phe722=
ENST00000684349.1:c.2541C=	ENSP00000508067.1:p.Phe847=
ENST00000684361.1:c.2355C=	ENSP00000507364.1:p.Phe785=
ENST00000684408.1:c.1998C=	ENSP00000506837.1:p.Phe666=
ENST00000684429.1:c.2283C=	ENSP00000507224.1:p.Phe761=
ENST00000684464.1:c.2448C=	ENSP00000508333.1:p.Phe816=
ENST00000684544.1:c.2274C=	ENSP00000507337.1:p.Phe758=
ENST00000684559.1:n.1110C=
ENST00000684760.1:c.2622C=	ENSP00000507696.1:p.Phe874=
ENST00000684776.1:c.*838C=	ENSP00000507861.1:n.*838C=
ENST00000355528.9:c.2355C= MANE Select	ENSP00000347719.4:p.Phe785=
ENST00000355528.8:c.2355C=	ENSP00000347719.4:p.Phe785=
ENST00000539345.6:c.2355C=	ENSP00000440671.2:p.Phe785=
ENST00000571618.5:n.533C=
ENST00000571796.5:n.1013C=
ENST00000574422.1:c.669C=	ENSP00000458599.1:p.Phe223=
ENST00000574818.5:n.413C=
ENST00000574886.1:n.739C=
ENST00000574975.5:c.732C=	ENSP00000461680.1:p.Phe244=
ENST00000576760.5:c.669C=	ENSP00000460949.1:p.Phe223=
NM_005993.4:c.2355C=	NP_005984.3:p.Phe785=
XM_005256396.3:c.2304C=	XP_005256453.1:p.Phe768=
XM_005256399.3:c.1071C=	XP_005256456.1:p.Phe357=
XM_005256400.3:c.669C=	XP_005256457.1:p.Phe223=
XM_005256401.3:c.669C=	XP_005256458.1:p.Phe223=
XM_005256402.3:c.669C=	XP_005256459.1:p.Phe223=
XM_005256403.3:c.669C=	XP_005256460.1:p.Phe223=
XM_005256404.3:c.669C=	XP_005256461.1:p.Phe223=
XM_006722290.2:c.2274C=	XP_006722353.1:p.Phe758=
XM_006722291.2:c.1059C=	XP_006722354.1:p.Phe353=
XM_006722292.2:c.669C=	XP_006722355.1:p.Phe223=
XM_011523589.1:c.2010C=	XP_011521891.1:p.Phe670=
XM_011523590.1:c.1998C=	XP_011521892.1:p.Phe666=
XM_011523591.1:c.1995C=	XP_011521893.1:p.Phe665=
XM_011523592.1:c.1908C=	XP_011521894.1:p.Phe636=
XM_011523593.1:c.1602C=	XP_011521895.1:p.Phe534=
XM_011523594.1:c.1083C=	XP_011521896.1:p.Phe361=
XM_011523595.1:c.1050C=	XP_011521897.1:p.Phe350=
XM_011523597.1:c.816C=	XP_011521899.1:p.Phe272=
XM_011523598.1:c.813C=	XP_011521900.1:p.Phe271=
XM_011523599.1:c.807C=	XP_011521901.1:p.Phe269=
XM_011523600.1:c.669C=	XP_011521902.1:p.Phe223=
XR_430033.2:n.2463C=
XM_005256396.4:c.2304C=	XP_005256453.1:p.Phe768=
XM_005256399.5:c.1071C=	XP_005256456.1:p.Phe357=
XM_005256404.4:c.669C=	XP_005256461.1:p.Phe223=
XM_006722291.4:c.1059C=	XP_006722354.1:p.Phe353=
XM_006722292.3:c.669C=	XP_006722355.1:p.Phe223=
XM_011523589.2:c.2010C=	XP_011521891.1:p.Phe670=
XM_011523591.2:c.1995C=	XP_011521893.1:p.Phe665=
XM_011523593.2:c.1602C=	XP_011521895.1:p.Phe534=
XM_011523594.2:c.1083C=	XP_011521896.1:p.Phe361=
XM_011523595.3:c.1050C=	XP_011521897.1:p.Phe350=
XM_011523597.2:c.816C=	XP_011521899.1:p.Phe272=
XM_011523599.2:c.807C=	XP_011521901.1:p.Phe269=
XM_011523600.3:c.669C=	XP_011521902.1:p.Phe223=
XM_017024987.1:c.2166C=	XP_016880476.1:p.Phe722=
XM_017024989.1:c.717C=	XP_016880478.1:p.Phe239=
XM_017024990.2:c.669C=	XP_016880479.1:p.Phe223=
XM_024450899.1:c.669C=	XP_024306667.1:p.Phe223=
XM_024450900.1:c.669C=	XP_024306668.1:p.Phe223=
XM_024450901.1:c.669C=	XP_024306669.1:p.Phe223=
XM_024450902.1:c.669C=	XP_024306670.1:p.Phe223=
XR_001752597.1:n.2463C=
XR_001752598.1:n.2463C=
XR_001752599.1:n.2463C=
XR_001752600.1:n.2381C=
NM_005993.5:c.2355C= MANE Select	NP_005984.3:p.Phe785=