Canonical Allele Identifier: CA2279278140

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925037C= , CM000679.2:g.82925037C=	GRCh38
NC_000017.10:g.80882913C= , CM000679.1:g.80882913C=	GRCh37
NC_000017.9:g.78476202C=	NCBI36
NG_011721.1:g.177974C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1567C=
ENST00000576677.6:n.1488C=
ENST00000681983.1:n.2495C=
ENST00000682099.1:n.1256C=
ENST00000682213.1:c.*330C=	ENSP00000508166.1:n.*330C=
ENST00000682315.1:c.673C=	ENSP00000507232.1:p.Leu225=
ENST00000682479.1:c.2449C=	ENSP00000508214.1:p.Leu817=
ENST00000682610.1:n.1599C=
ENST00000682654.1:c.*330C=	ENSP00000507412.1:n.*330C=
ENST00000682722.1:c.2308C=	ENSP00000508364.1:p.Leu770=
ENST00000683041.1:c.*330C=	ENSP00000506994.1:n.*330C=
ENST00000683184.1:c.*2012C=	ENSP00000507757.1:n.*2012C=
ENST00000683282.1:c.2275C=	ENSP00000506913.1:p.Leu759=
ENST00000683444.1:c.*1936C=	ENSP00000507553.1:n.*1936C=
ENST00000683584.1:n.1182C=
ENST00000683821.1:c.673C=	ENSP00000507651.1:p.Leu225=
ENST00000683839.1:n.1813C=
ENST00000684000.1:c.2443C=	ENSP00000506795.1:p.Leu815=
ENST00000684188.1:c.2170C=	ENSP00000507153.1:p.Leu724=
ENST00000684349.1:c.2545C=	ENSP00000508067.1:p.Leu849=
ENST00000684361.1:c.2359C=	ENSP00000507364.1:p.Leu787=
ENST00000684408.1:c.2002C=	ENSP00000506837.1:p.Leu668=
ENST00000684429.1:c.2287C=	ENSP00000507224.1:p.Leu763=
ENST00000684464.1:c.2452C=	ENSP00000508333.1:p.Leu818=
ENST00000684544.1:c.2278C=	ENSP00000507337.1:p.Leu760=
ENST00000684559.1:n.1114C=
ENST00000684760.1:c.2626C=	ENSP00000507696.1:p.Leu876=
ENST00000684776.1:c.*842C=	ENSP00000507861.1:n.*842C=
ENST00000355528.9:c.2359C= MANE Select	ENSP00000347719.4:p.Leu787=
ENST00000355528.8:c.2359C=	ENSP00000347719.4:p.Leu787=
ENST00000539345.6:c.2359C=	ENSP00000440671.2:p.Leu787=
ENST00000571618.5:n.537C=
ENST00000571796.5:n.1017C=
ENST00000574422.1:c.673C=	ENSP00000458599.1:p.Leu225=
ENST00000574818.5:n.417C=
ENST00000574886.1:n.743C=
ENST00000574975.5:c.736C=	ENSP00000461680.1:p.Leu246=
ENST00000576760.5:c.673C=	ENSP00000460949.1:p.Leu225=
NM_005993.4:c.2359C=	NP_005984.3:p.Leu787=
XM_005256396.3:c.2308C=	XP_005256453.1:p.Leu770=
XM_005256399.3:c.1075C=	XP_005256456.1:p.Leu359=
XM_005256400.3:c.673C=	XP_005256457.1:p.Leu225=
XM_005256401.3:c.673C=	XP_005256458.1:p.Leu225=
XM_005256402.3:c.673C=	XP_005256459.1:p.Leu225=
XM_005256403.3:c.673C=	XP_005256460.1:p.Leu225=
XM_005256404.3:c.673C=	XP_005256461.1:p.Leu225=
XM_006722290.2:c.2278C=	XP_006722353.1:p.Leu760=
XM_006722291.2:c.1063C=	XP_006722354.1:p.Leu355=
XM_006722292.2:c.673C=	XP_006722355.1:p.Leu225=
XM_011523589.1:c.2014C=	XP_011521891.1:p.Leu672=
XM_011523590.1:c.2002C=	XP_011521892.1:p.Leu668=
XM_011523591.1:c.1999C=	XP_011521893.1:p.Leu667=
XM_011523592.1:c.1912C=	XP_011521894.1:p.Leu638=
XM_011523593.1:c.1606C=	XP_011521895.1:p.Leu536=
XM_011523594.1:c.1087C=	XP_011521896.1:p.Leu363=
XM_011523595.1:c.1054C=	XP_011521897.1:p.Leu352=
XM_011523597.1:c.820C=	XP_011521899.1:p.Leu274=
XM_011523598.1:c.817C=	XP_011521900.1:p.Leu273=
XM_011523599.1:c.811C=	XP_011521901.1:p.Leu271=
XM_011523600.1:c.673C=	XP_011521902.1:p.Leu225=
XR_430033.2:n.2467C=
XM_005256396.4:c.2308C=	XP_005256453.1:p.Leu770=
XM_005256399.5:c.1075C=	XP_005256456.1:p.Leu359=
XM_005256404.4:c.673C=	XP_005256461.1:p.Leu225=
XM_006722291.4:c.1063C=	XP_006722354.1:p.Leu355=
XM_006722292.3:c.673C=	XP_006722355.1:p.Leu225=
XM_011523589.2:c.2014C=	XP_011521891.1:p.Leu672=
XM_011523591.2:c.1999C=	XP_011521893.1:p.Leu667=
XM_011523593.2:c.1606C=	XP_011521895.1:p.Leu536=
XM_011523594.2:c.1087C=	XP_011521896.1:p.Leu363=
XM_011523595.3:c.1054C=	XP_011521897.1:p.Leu352=
XM_011523597.2:c.820C=	XP_011521899.1:p.Leu274=
XM_011523599.2:c.811C=	XP_011521901.1:p.Leu271=
XM_011523600.3:c.673C=	XP_011521902.1:p.Leu225=
XM_017024987.1:c.2170C=	XP_016880476.1:p.Leu724=
XM_017024989.1:c.721C=	XP_016880478.1:p.Leu241=
XM_017024990.2:c.673C=	XP_016880479.1:p.Leu225=
XM_024450899.1:c.673C=	XP_024306667.1:p.Leu225=
XM_024450900.1:c.673C=	XP_024306668.1:p.Leu225=
XM_024450901.1:c.673C=	XP_024306669.1:p.Leu225=
XM_024450902.1:c.673C=	XP_024306670.1:p.Leu225=
XR_001752597.1:n.2467C=
XR_001752598.1:n.2467C=
XR_001752599.1:n.2467C=
XR_001752600.1:n.2385C=
NM_005993.5:c.2359C= MANE Select	NP_005984.3:p.Leu787=