Canonical Allele Identifier: CA2279278059

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924942A= , CM000679.2:g.82924942A=	GRCh38
NC_000017.10:g.80882818A= , CM000679.1:g.80882818A=	GRCh37
NC_000017.9:g.78476107A=	NCBI36
NG_011721.1:g.177879A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1472A=
ENST00000576677.6:n.1393A=
ENST00000681983.1:n.2400A=
ENST00000682099.1:n.1161A=
ENST00000682213.1:c.*235A=	ENSP00000508166.1:n.*235A=
ENST00000682315.1:c.578A=	ENSP00000507232.1:p.Glu193=
ENST00000682479.1:c.2354A=	ENSP00000508214.1:p.Glu785=
ENST00000682610.1:n.1504A=
ENST00000682654.1:c.*235A=	ENSP00000507412.1:n.*235A=
ENST00000682722.1:c.2213A=	ENSP00000508364.1:p.Glu738=
ENST00000683041.1:c.*235A=	ENSP00000506994.1:n.*235A=
ENST00000683184.1:c.*1917A=	ENSP00000507757.1:n.*1917A=
ENST00000683282.1:c.2180A=	ENSP00000506913.1:p.Glu727=
ENST00000683444.1:c.*1841A=	ENSP00000507553.1:n.*1841A=
ENST00000683584.1:n.1087A=
ENST00000683821.1:c.578A=	ENSP00000507651.1:p.Glu193=
ENST00000683839.1:n.1718A=
ENST00000684000.1:c.2348A=	ENSP00000506795.1:p.Glu783=
ENST00000684188.1:c.2075A=	ENSP00000507153.1:p.Glu692=
ENST00000684349.1:c.2450A=	ENSP00000508067.1:p.Glu817=
ENST00000684361.1:c.2264A=	ENSP00000507364.1:p.Glu755=
ENST00000684408.1:c.1907A=	ENSP00000506837.1:p.Glu636=
ENST00000684429.1:c.2192A=	ENSP00000507224.1:p.Glu731=
ENST00000684464.1:c.2357A=	ENSP00000508333.1:p.Glu786=
ENST00000684544.1:c.2183A=	ENSP00000507337.1:p.Glu728=
ENST00000684559.1:n.1019A=
ENST00000684760.1:c.2531A=	ENSP00000507696.1:p.Glu844=
ENST00000684776.1:c.*747A=	ENSP00000507861.1:n.*747A=
ENST00000355528.9:c.2264A= MANE Select	ENSP00000347719.4:p.Glu755=
ENST00000355528.8:c.2264A=	ENSP00000347719.4:p.Glu755=
ENST00000539345.6:c.2264A=	ENSP00000440671.2:p.Glu755=
ENST00000571618.5:n.442A=
ENST00000571796.5:n.922A=
ENST00000574422.1:c.578A=	ENSP00000458599.1:p.Glu193=
ENST00000574818.5:n.322A=
ENST00000574886.1:n.648A=
ENST00000574975.5:c.641A=	ENSP00000461680.1:p.Glu214=
ENST00000576760.5:c.578A=	ENSP00000460949.1:p.Glu193=
NM_005993.4:c.2264A=	NP_005984.3:p.Glu755=
XM_005256396.3:c.2213A=	XP_005256453.1:p.Glu738=
XM_005256399.3:c.980A=	XP_005256456.1:p.Glu327=
XM_005256400.3:c.578A=	XP_005256457.1:p.Glu193=
XM_005256401.3:c.578A=	XP_005256458.1:p.Glu193=
XM_005256402.3:c.578A=	XP_005256459.1:p.Glu193=
XM_005256403.3:c.578A=	XP_005256460.1:p.Glu193=
XM_005256404.3:c.578A=	XP_005256461.1:p.Glu193=
XM_006722290.2:c.2183A=	XP_006722353.1:p.Glu728=
XM_006722291.2:c.968A=	XP_006722354.1:p.Glu323=
XM_006722292.2:c.578A=	XP_006722355.1:p.Glu193=
XM_011523589.1:c.1919A=	XP_011521891.1:p.Glu640=
XM_011523590.1:c.1907A=	XP_011521892.1:p.Glu636=
XM_011523591.1:c.1904A=	XP_011521893.1:p.Glu635=
XM_011523592.1:c.1817A=	XP_011521894.1:p.Glu606=
XM_011523593.1:c.1511A=	XP_011521895.1:p.Glu504=
XM_011523594.1:c.992A=	XP_011521896.1:p.Glu331=
XM_011523595.1:c.959A=	XP_011521897.1:p.Glu320=
XM_011523596.1:c.2182A=	XP_011521898.1:p.Ser728=
XM_011523597.1:c.725A=	XP_011521899.1:p.Glu242=
XM_011523598.1:c.722A=	XP_011521900.1:p.Glu241=
XM_011523599.1:c.716A=	XP_011521901.1:p.Glu239=
XM_011523600.1:c.578A=	XP_011521902.1:p.Glu193=
XR_430033.2:n.2372A=
XM_005256396.4:c.2213A=	XP_005256453.1:p.Glu738=
XM_005256399.5:c.980A=	XP_005256456.1:p.Glu327=
XM_005256404.4:c.578A=	XP_005256461.1:p.Glu193=
XM_006722291.4:c.968A=	XP_006722354.1:p.Glu323=
XM_006722292.3:c.578A=	XP_006722355.1:p.Glu193=
XM_011523589.2:c.1919A=	XP_011521891.1:p.Glu640=
XM_011523591.2:c.1904A=	XP_011521893.1:p.Glu635=
XM_011523593.2:c.1511A=	XP_011521895.1:p.Glu504=
XM_011523594.2:c.992A=	XP_011521896.1:p.Glu331=
XM_011523595.3:c.959A=	XP_011521897.1:p.Glu320=
XM_011523597.2:c.725A=	XP_011521899.1:p.Glu242=
XM_011523599.2:c.716A=	XP_011521901.1:p.Glu239=
XM_011523600.3:c.578A=	XP_011521902.1:p.Glu193=
XM_017024987.1:c.2075A=	XP_016880476.1:p.Glu692=
XM_017024989.1:c.626A=	XP_016880478.1:p.Glu209=
XM_017024990.2:c.578A=	XP_016880479.1:p.Glu193=
XM_024450899.1:c.578A=	XP_024306667.1:p.Glu193=
XM_024450900.1:c.578A=	XP_024306668.1:p.Glu193=
XM_024450901.1:c.578A=	XP_024306669.1:p.Glu193=
XM_024450902.1:c.578A=	XP_024306670.1:p.Glu193=
XR_001752597.1:n.2372A=
XR_001752598.1:n.2372A=
XR_001752599.1:n.2372A=
XR_001752600.1:n.2290A=
NM_005993.5:c.2264A= MANE Select	NP_005984.3:p.Glu755=