Canonical Allele Identifier: CA2279278085

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924984A= , CM000679.2:g.82924984A=	GRCh38
NC_000017.10:g.80882860A= , CM000679.1:g.80882860A=	GRCh37
NC_000017.9:g.78476149A=	NCBI36
NG_011721.1:g.177921A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1514A=
ENST00000576677.6:n.1435A=
ENST00000681983.1:n.2442A=
ENST00000682099.1:n.1203A=
ENST00000682213.1:c.*277A=	ENSP00000508166.1:n.*277A=
ENST00000682315.1:c.620A=	ENSP00000507232.1:p.Glu207=
ENST00000682479.1:c.2396A=	ENSP00000508214.1:p.Glu799=
ENST00000682610.1:n.1546A=
ENST00000682654.1:c.*277A=	ENSP00000507412.1:n.*277A=
ENST00000682722.1:c.2255A=	ENSP00000508364.1:p.Glu752=
ENST00000683041.1:c.*277A=	ENSP00000506994.1:n.*277A=
ENST00000683184.1:c.*1959A=	ENSP00000507757.1:n.*1959A=
ENST00000683282.1:c.2222A=	ENSP00000506913.1:p.Glu741=
ENST00000683444.1:c.*1883A=	ENSP00000507553.1:n.*1883A=
ENST00000683584.1:n.1129A=
ENST00000683821.1:c.620A=	ENSP00000507651.1:p.Glu207=
ENST00000683839.1:n.1760A=
ENST00000684000.1:c.2390A=	ENSP00000506795.1:p.Glu797=
ENST00000684188.1:c.2117A=	ENSP00000507153.1:p.Glu706=
ENST00000684349.1:c.2492A=	ENSP00000508067.1:p.Glu831=
ENST00000684361.1:c.2306A=	ENSP00000507364.1:p.Glu769=
ENST00000684408.1:c.1949A=	ENSP00000506837.1:p.Glu650=
ENST00000684429.1:c.2234A=	ENSP00000507224.1:p.Glu745=
ENST00000684464.1:c.2399A=	ENSP00000508333.1:p.Glu800=
ENST00000684544.1:c.2225A=	ENSP00000507337.1:p.Glu742=
ENST00000684559.1:n.1061A=
ENST00000684760.1:c.2573A=	ENSP00000507696.1:p.Glu858=
ENST00000684776.1:c.*789A=	ENSP00000507861.1:n.*789A=
ENST00000355528.9:c.2306A= MANE Select	ENSP00000347719.4:p.Glu769=
ENST00000355528.8:c.2306A=	ENSP00000347719.4:p.Glu769=
ENST00000539345.6:c.2306A=	ENSP00000440671.2:p.Glu769=
ENST00000571618.5:n.484A=
ENST00000571796.5:n.964A=
ENST00000574422.1:c.620A=	ENSP00000458599.1:p.Glu207=
ENST00000574818.5:n.364A=
ENST00000574886.1:n.690A=
ENST00000574975.5:c.683A=	ENSP00000461680.1:p.Glu228=
ENST00000576760.5:c.620A=	ENSP00000460949.1:p.Glu207=
NM_005993.4:c.2306A=	NP_005984.3:p.Glu769=
XM_005256396.3:c.2255A=	XP_005256453.1:p.Glu752=
XM_005256399.3:c.1022A=	XP_005256456.1:p.Glu341=
XM_005256400.3:c.620A=	XP_005256457.1:p.Glu207=
XM_005256401.3:c.620A=	XP_005256458.1:p.Glu207=
XM_005256402.3:c.620A=	XP_005256459.1:p.Glu207=
XM_005256403.3:c.620A=	XP_005256460.1:p.Glu207=
XM_005256404.3:c.620A=	XP_005256461.1:p.Glu207=
XM_006722290.2:c.2225A=	XP_006722353.1:p.Glu742=
XM_006722291.2:c.1010A=	XP_006722354.1:p.Glu337=
XM_006722292.2:c.620A=	XP_006722355.1:p.Glu207=
XM_011523589.1:c.1961A=	XP_011521891.1:p.Glu654=
XM_011523590.1:c.1949A=	XP_011521892.1:p.Glu650=
XM_011523591.1:c.1946A=	XP_011521893.1:p.Glu649=
XM_011523592.1:c.1859A=	XP_011521894.1:p.Glu620=
XM_011523593.1:c.1553A=	XP_011521895.1:p.Glu518=
XM_011523594.1:c.1034A=	XP_011521896.1:p.Glu345=
XM_011523595.1:c.1001A=	XP_011521897.1:p.Glu334=
XM_011523596.1:c.*37A=	XP_011521898.1:n.*37A=
XM_011523597.1:c.767A=	XP_011521899.1:p.Glu256=
XM_011523598.1:c.764A=	XP_011521900.1:p.Glu255=
XM_011523599.1:c.758A=	XP_011521901.1:p.Glu253=
XM_011523600.1:c.620A=	XP_011521902.1:p.Glu207=
XR_430033.2:n.2414A=
XM_005256396.4:c.2255A=	XP_005256453.1:p.Glu752=
XM_005256399.5:c.1022A=	XP_005256456.1:p.Glu341=
XM_005256404.4:c.620A=	XP_005256461.1:p.Glu207=
XM_006722291.4:c.1010A=	XP_006722354.1:p.Glu337=
XM_006722292.3:c.620A=	XP_006722355.1:p.Glu207=
XM_011523589.2:c.1961A=	XP_011521891.1:p.Glu654=
XM_011523591.2:c.1946A=	XP_011521893.1:p.Glu649=
XM_011523593.2:c.1553A=	XP_011521895.1:p.Glu518=
XM_011523594.2:c.1034A=	XP_011521896.1:p.Glu345=
XM_011523595.3:c.1001A=	XP_011521897.1:p.Glu334=
XM_011523597.2:c.767A=	XP_011521899.1:p.Glu256=
XM_011523599.2:c.758A=	XP_011521901.1:p.Glu253=
XM_011523600.3:c.620A=	XP_011521902.1:p.Glu207=
XM_017024987.1:c.2117A=	XP_016880476.1:p.Glu706=
XM_017024989.1:c.668A=	XP_016880478.1:p.Glu223=
XM_017024990.2:c.620A=	XP_016880479.1:p.Glu207=
XM_024450899.1:c.620A=	XP_024306667.1:p.Glu207=
XM_024450900.1:c.620A=	XP_024306668.1:p.Glu207=
XM_024450901.1:c.620A=	XP_024306669.1:p.Glu207=
XM_024450902.1:c.620A=	XP_024306670.1:p.Glu207=
XR_001752597.1:n.2414A=
XR_001752598.1:n.2414A=
XR_001752599.1:n.2414A=
XR_001752600.1:n.2332A=
NM_005993.5:c.2306A= MANE Select	NP_005984.3:p.Glu769=