Canonical Allele Identifier: CA2279278167

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925055C= , CM000679.2:g.82925055C=	GRCh38
NC_000017.10:g.80882931C= , CM000679.1:g.80882931C=	GRCh37
NC_000017.9:g.78476220C=	NCBI36
NG_011721.1:g.177992C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1585C=
ENST00000576677.6:n.1506C=
ENST00000681983.1:n.2513C=
ENST00000682099.1:n.1274C=
ENST00000682213.1:c.*348C=	ENSP00000508166.1:n.*348C=
ENST00000682315.1:c.691C=	ENSP00000507232.1:p.Gln231=
ENST00000682479.1:c.2467C=	ENSP00000508214.1:p.Gln823=
ENST00000682610.1:n.1617C=
ENST00000682654.1:c.*348C=	ENSP00000507412.1:n.*348C=
ENST00000682722.1:c.2326C=	ENSP00000508364.1:p.Gln776=
ENST00000683041.1:c.*348C=	ENSP00000506994.1:n.*348C=
ENST00000683184.1:c.*2030C=	ENSP00000507757.1:n.*2030C=
ENST00000683282.1:c.2293C=	ENSP00000506913.1:p.Gln765=
ENST00000683444.1:c.*1954C=	ENSP00000507553.1:n.*1954C=
ENST00000683584.1:n.1200C=
ENST00000683821.1:c.691C=	ENSP00000507651.1:p.Gln231=
ENST00000683839.1:n.1831C=
ENST00000684000.1:c.2461C=	ENSP00000506795.1:p.Gln821=
ENST00000684188.1:c.2188C=	ENSP00000507153.1:p.Gln730=
ENST00000684349.1:c.2563C=	ENSP00000508067.1:p.Gln855=
ENST00000684361.1:c.2377C=	ENSP00000507364.1:p.Gln793=
ENST00000684408.1:c.2020C=	ENSP00000506837.1:p.Gln674=
ENST00000684429.1:c.2305C=	ENSP00000507224.1:p.Gln769=
ENST00000684464.1:c.2470C=	ENSP00000508333.1:p.Gln824=
ENST00000684544.1:c.2296C=	ENSP00000507337.1:p.Gln766=
ENST00000684559.1:n.1132C=
ENST00000684760.1:c.2644C=	ENSP00000507696.1:p.Gln882=
ENST00000684776.1:c.*860C=	ENSP00000507861.1:n.*860C=
ENST00000355528.9:c.2377C= MANE Select	ENSP00000347719.4:p.Gln793=
ENST00000355528.8:c.2377C=	ENSP00000347719.4:p.Gln793=
ENST00000539345.6:c.2377C=	ENSP00000440671.2:p.Gln793=
ENST00000571618.5:n.555C=
ENST00000571796.5:n.1035C=
ENST00000574422.1:c.691C=	ENSP00000458599.1:p.Gln231=
ENST00000574818.5:n.435C=
ENST00000574886.1:n.761C=
ENST00000574975.5:c.754C=
ENST00000576760.5:c.691C=	ENSP00000460949.1:p.Gln231=
NM_005993.4:c.2377C=	NP_005984.3:p.Gln793=
XM_005256396.3:c.2326C=	XP_005256453.1:p.Gln776=
XM_005256399.3:c.1093C=	XP_005256456.1:p.Gln365=
XM_005256400.3:c.691C=	XP_005256457.1:p.Gln231=
XM_005256401.3:c.691C=	XP_005256458.1:p.Gln231=
XM_005256402.3:c.691C=	XP_005256459.1:p.Gln231=
XM_005256403.3:c.691C=	XP_005256460.1:p.Gln231=
XM_005256404.3:c.691C=	XP_005256461.1:p.Gln231=
XM_006722290.2:c.2296C=	XP_006722353.1:p.Gln766=
XM_006722291.2:c.1081C=	XP_006722354.1:p.Gln361=
XM_006722292.2:c.691C=	XP_006722355.1:p.Gln231=
XM_011523589.1:c.2032C=	XP_011521891.1:p.Gln678=
XM_011523590.1:c.2020C=	XP_011521892.1:p.Gln674=
XM_011523591.1:c.2017C=	XP_011521893.1:p.Gln673=
XM_011523592.1:c.1930C=	XP_011521894.1:p.Gln644=
XM_011523593.1:c.1624C=	XP_011521895.1:p.Gln542=
XM_011523594.1:c.1105C=	XP_011521896.1:p.Gln369=
XM_011523595.1:c.1072C=	XP_011521897.1:p.Gln358=
XM_011523597.1:c.838C=	XP_011521899.1:p.Gln280=
XM_011523598.1:c.835C=	XP_011521900.1:p.Gln279=
XM_011523599.1:c.829C=	XP_011521901.1:p.Gln277=
XM_011523600.1:c.691C=	XP_011521902.1:p.Gln231=
XR_430033.2:n.2485C=
XM_005256396.4:c.2326C=	XP_005256453.1:p.Gln776=
XM_005256399.5:c.1093C=	XP_005256456.1:p.Gln365=
XM_005256404.4:c.691C=	XP_005256461.1:p.Gln231=
XM_006722291.4:c.1081C=	XP_006722354.1:p.Gln361=
XM_006722292.3:c.691C=	XP_006722355.1:p.Gln231=
XM_011523589.2:c.2032C=	XP_011521891.1:p.Gln678=
XM_011523591.2:c.2017C=	XP_011521893.1:p.Gln673=
XM_011523593.2:c.1624C=	XP_011521895.1:p.Gln542=
XM_011523594.2:c.1105C=	XP_011521896.1:p.Gln369=
XM_011523595.3:c.1072C=	XP_011521897.1:p.Gln358=
XM_011523597.2:c.838C=	XP_011521899.1:p.Gln280=
XM_011523599.2:c.829C=	XP_011521901.1:p.Gln277=
XM_011523600.3:c.691C=	XP_011521902.1:p.Gln231=
XM_017024987.1:c.2188C=	XP_016880476.1:p.Gln730=
XM_017024989.1:c.739C=	XP_016880478.1:p.Gln247=
XM_017024990.2:c.691C=	XP_016880479.1:p.Gln231=
XM_024450899.1:c.691C=	XP_024306667.1:p.Gln231=
XM_024450900.1:c.691C=	XP_024306668.1:p.Gln231=
XM_024450901.1:c.691C=	XP_024306669.1:p.Gln231=
XM_024450902.1:c.691C=	XP_024306670.1:p.Gln231=
XR_001752597.1:n.2485C=
XR_001752598.1:n.2485C=
XR_001752599.1:n.2485C=
XR_001752600.1:n.2403C=
NM_005993.5:c.2377C= MANE Select	NP_005984.3:p.Gln793=