Canonical Allele Identifier: CA2279278074

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924971C= , CM000679.2:g.82924971C=	GRCh38
NC_000017.10:g.80882847C= , CM000679.1:g.80882847C=	GRCh37
NC_000017.9:g.78476136C=	NCBI36
NG_011721.1:g.177908C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1501C=
ENST00000576677.6:n.1422C=
ENST00000681983.1:n.2429C=
ENST00000682099.1:n.1190C=
ENST00000682213.1:c.*264C=	ENSP00000508166.1:n.*264C=
ENST00000682315.1:c.607C=	ENSP00000507232.1:p.Arg203=
ENST00000682479.1:c.2383C=	ENSP00000508214.1:p.Arg795=
ENST00000682610.1:n.1533C=
ENST00000682654.1:c.*264C=	ENSP00000507412.1:n.*264C=
ENST00000682722.1:c.2242C=	ENSP00000508364.1:p.Arg748=
ENST00000683041.1:c.*264C=	ENSP00000506994.1:n.*264C=
ENST00000683184.1:c.*1946C=	ENSP00000507757.1:n.*1946C=
ENST00000683282.1:c.2209C=	ENSP00000506913.1:p.Arg737=
ENST00000683444.1:c.*1870C=	ENSP00000507553.1:n.*1870C=
ENST00000683584.1:n.1116C=
ENST00000683821.1:c.607C=	ENSP00000507651.1:p.Arg203=
ENST00000683839.1:n.1747C=
ENST00000684000.1:c.2377C=	ENSP00000506795.1:p.Arg793=
ENST00000684188.1:c.2104C=	ENSP00000507153.1:p.Arg702=
ENST00000684349.1:c.2479C=	ENSP00000508067.1:p.Arg827=
ENST00000684361.1:c.2293C=	ENSP00000507364.1:p.Arg765=
ENST00000684408.1:c.1936C=	ENSP00000506837.1:p.Arg646=
ENST00000684429.1:c.2221C=	ENSP00000507224.1:p.Arg741=
ENST00000684464.1:c.2386C=	ENSP00000508333.1:p.Arg796=
ENST00000684544.1:c.2212C=	ENSP00000507337.1:p.Arg738=
ENST00000684559.1:n.1048C=
ENST00000684760.1:c.2560C=	ENSP00000507696.1:p.Arg854=
ENST00000684776.1:c.*776C=	ENSP00000507861.1:n.*776C=
ENST00000355528.9:c.2293C= MANE Select	ENSP00000347719.4:p.Arg765=
ENST00000355528.8:c.2293C=	ENSP00000347719.4:p.Arg765=
ENST00000539345.6:c.2293C=	ENSP00000440671.2:p.Arg765=
ENST00000571618.5:n.471C=
ENST00000571796.5:n.951C=
ENST00000574422.1:c.607C=	ENSP00000458599.1:p.Arg203=
ENST00000574818.5:n.351C=
ENST00000574886.1:n.677C=
ENST00000574975.5:c.670C=	ENSP00000461680.1:p.Arg224=
ENST00000576760.5:c.607C=	ENSP00000460949.1:p.Arg203=
NM_005993.4:c.2293C=	NP_005984.3:p.Arg765=
XM_005256396.3:c.2242C=	XP_005256453.1:p.Arg748=
XM_005256399.3:c.1009C=	XP_005256456.1:p.Arg337=
XM_005256400.3:c.607C=	XP_005256457.1:p.Arg203=
XM_005256401.3:c.607C=	XP_005256458.1:p.Arg203=
XM_005256402.3:c.607C=	XP_005256459.1:p.Arg203=
XM_005256403.3:c.607C=	XP_005256460.1:p.Arg203=
XM_005256404.3:c.607C=	XP_005256461.1:p.Arg203=
XM_006722290.2:c.2212C=	XP_006722353.1:p.Arg738=
XM_006722291.2:c.997C=	XP_006722354.1:p.Arg333=
XM_006722292.2:c.607C=	XP_006722355.1:p.Arg203=
XM_011523589.1:c.1948C=	XP_011521891.1:p.Arg650=
XM_011523590.1:c.1936C=	XP_011521892.1:p.Arg646=
XM_011523591.1:c.1933C=	XP_011521893.1:p.Arg645=
XM_011523592.1:c.1846C=	XP_011521894.1:p.Arg616=
XM_011523593.1:c.1540C=	XP_011521895.1:p.Arg514=
XM_011523594.1:c.1021C=	XP_011521896.1:p.Arg341=
XM_011523595.1:c.988C=	XP_011521897.1:p.Arg330=
XM_011523596.1:c.*24C=	XP_011521898.1:n.*24C=
XM_011523597.1:c.754C=	XP_011521899.1:p.Arg252=
XM_011523598.1:c.751C=	XP_011521900.1:p.Arg251=
XM_011523599.1:c.745C=	XP_011521901.1:p.Arg249=
XM_011523600.1:c.607C=	XP_011521902.1:p.Arg203=
XR_430033.2:n.2401C=
XM_005256396.4:c.2242C=	XP_005256453.1:p.Arg748=
XM_005256399.5:c.1009C=	XP_005256456.1:p.Arg337=
XM_005256404.4:c.607C=	XP_005256461.1:p.Arg203=
XM_006722291.4:c.997C=	XP_006722354.1:p.Arg333=
XM_006722292.3:c.607C=	XP_006722355.1:p.Arg203=
XM_011523589.2:c.1948C=	XP_011521891.1:p.Arg650=
XM_011523591.2:c.1933C=	XP_011521893.1:p.Arg645=
XM_011523593.2:c.1540C=	XP_011521895.1:p.Arg514=
XM_011523594.2:c.1021C=	XP_011521896.1:p.Arg341=
XM_011523595.3:c.988C=	XP_011521897.1:p.Arg330=
XM_011523597.2:c.754C=	XP_011521899.1:p.Arg252=
XM_011523599.2:c.745C=	XP_011521901.1:p.Arg249=
XM_011523600.3:c.607C=	XP_011521902.1:p.Arg203=
XM_017024987.1:c.2104C=	XP_016880476.1:p.Arg702=
XM_017024989.1:c.655C=	XP_016880478.1:p.Arg219=
XM_017024990.2:c.607C=	XP_016880479.1:p.Arg203=
XM_024450899.1:c.607C=	XP_024306667.1:p.Arg203=
XM_024450900.1:c.607C=	XP_024306668.1:p.Arg203=
XM_024450901.1:c.607C=	XP_024306669.1:p.Arg203=
XM_024450902.1:c.607C=	XP_024306670.1:p.Arg203=
XR_001752597.1:n.2401C=
XR_001752598.1:n.2401C=
XR_001752599.1:n.2401C=
XR_001752600.1:n.2319C=
NM_005993.5:c.2293C= MANE Select	NP_005984.3:p.Arg765=