Canonical Allele Identifier: CA2279278070

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924959C= , CM000679.2:g.82924959C=	GRCh38
NC_000017.10:g.80882835C= , CM000679.1:g.80882835C=	GRCh37
NC_000017.9:g.78476124C=	NCBI36
NG_011721.1:g.177896C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1489C=
ENST00000576677.6:n.1410C=
ENST00000681983.1:n.2417C=
ENST00000682099.1:n.1178C=
ENST00000682213.1:c.*252C=	ENSP00000508166.1:n.*252C=
ENST00000682315.1:c.595C=	ENSP00000507232.1:p.Leu199=
ENST00000682479.1:c.2371C=	ENSP00000508214.1:p.Leu791=
ENST00000682610.1:n.1521C=
ENST00000682654.1:c.*252C=	ENSP00000507412.1:n.*252C=
ENST00000682722.1:c.2230C=	ENSP00000508364.1:p.Leu744=
ENST00000683041.1:c.*252C=	ENSP00000506994.1:n.*252C=
ENST00000683184.1:c.*1934C=	ENSP00000507757.1:n.*1934C=
ENST00000683282.1:c.2197C=	ENSP00000506913.1:p.Leu733=
ENST00000683444.1:c.*1858C=	ENSP00000507553.1:n.*1858C=
ENST00000683584.1:n.1104C=
ENST00000683821.1:c.595C=	ENSP00000507651.1:p.Leu199=
ENST00000683839.1:n.1735C=
ENST00000684000.1:c.2365C=	ENSP00000506795.1:p.Leu789=
ENST00000684188.1:c.2092C=	ENSP00000507153.1:p.Leu698=
ENST00000684349.1:c.2467C=	ENSP00000508067.1:p.Leu823=
ENST00000684361.1:c.2281C=	ENSP00000507364.1:p.Leu761=
ENST00000684408.1:c.1924C=	ENSP00000506837.1:p.Leu642=
ENST00000684429.1:c.2209C=	ENSP00000507224.1:p.Leu737=
ENST00000684464.1:c.2374C=	ENSP00000508333.1:p.Leu792=
ENST00000684544.1:c.2200C=	ENSP00000507337.1:p.Leu734=
ENST00000684559.1:n.1036C=
ENST00000684760.1:c.2548C=	ENSP00000507696.1:p.Leu850=
ENST00000684776.1:c.*764C=	ENSP00000507861.1:n.*764C=
ENST00000355528.9:c.2281C= MANE Select	ENSP00000347719.4:p.Leu761=
ENST00000355528.8:c.2281C=	ENSP00000347719.4:p.Leu761=
ENST00000539345.6:c.2281C=	ENSP00000440671.2:p.Leu761=
ENST00000571618.5:n.459C=
ENST00000571796.5:n.939C=
ENST00000574422.1:c.595C=	ENSP00000458599.1:p.Leu199=
ENST00000574818.5:n.339C=
ENST00000574886.1:n.665C=
ENST00000574975.5:c.658C=	ENSP00000461680.1:p.Leu220=
ENST00000576760.5:c.595C=	ENSP00000460949.1:p.Leu199=
NM_005993.4:c.2281C=	NP_005984.3:p.Leu761=
XM_005256396.3:c.2230C=	XP_005256453.1:p.Leu744=
XM_005256399.3:c.997C=	XP_005256456.1:p.Leu333=
XM_005256400.3:c.595C=	XP_005256457.1:p.Leu199=
XM_005256401.3:c.595C=	XP_005256458.1:p.Leu199=
XM_005256402.3:c.595C=	XP_005256459.1:p.Leu199=
XM_005256403.3:c.595C=	XP_005256460.1:p.Leu199=
XM_005256404.3:c.595C=	XP_005256461.1:p.Leu199=
XM_006722290.2:c.2200C=	XP_006722353.1:p.Leu734=
XM_006722291.2:c.985C=	XP_006722354.1:p.Leu329=
XM_006722292.2:c.595C=	XP_006722355.1:p.Leu199=
XM_011523589.1:c.1936C=	XP_011521891.1:p.Leu646=
XM_011523590.1:c.1924C=	XP_011521892.1:p.Leu642=
XM_011523591.1:c.1921C=	XP_011521893.1:p.Leu641=
XM_011523592.1:c.1834C=	XP_011521894.1:p.Leu612=
XM_011523593.1:c.1528C=	XP_011521895.1:p.Leu510=
XM_011523594.1:c.1009C=	XP_011521896.1:p.Leu337=
XM_011523595.1:c.976C=	XP_011521897.1:p.Leu326=
XM_011523596.1:c.*12C=	XP_011521898.1:n.*12C=
XM_011523597.1:c.742C=	XP_011521899.1:p.Leu248=
XM_011523598.1:c.739C=	XP_011521900.1:p.Leu247=
XM_011523599.1:c.733C=	XP_011521901.1:p.Leu245=
XM_011523600.1:c.595C=	XP_011521902.1:p.Leu199=
XR_430033.2:n.2389C=
XM_005256396.4:c.2230C=	XP_005256453.1:p.Leu744=
XM_005256399.5:c.997C=	XP_005256456.1:p.Leu333=
XM_005256404.4:c.595C=	XP_005256461.1:p.Leu199=
XM_006722291.4:c.985C=	XP_006722354.1:p.Leu329=
XM_006722292.3:c.595C=	XP_006722355.1:p.Leu199=
XM_011523589.2:c.1936C=	XP_011521891.1:p.Leu646=
XM_011523591.2:c.1921C=	XP_011521893.1:p.Leu641=
XM_011523593.2:c.1528C=	XP_011521895.1:p.Leu510=
XM_011523594.2:c.1009C=	XP_011521896.1:p.Leu337=
XM_011523595.3:c.976C=	XP_011521897.1:p.Leu326=
XM_011523597.2:c.742C=	XP_011521899.1:p.Leu248=
XM_011523599.2:c.733C=	XP_011521901.1:p.Leu245=
XM_011523600.3:c.595C=	XP_011521902.1:p.Leu199=
XM_017024987.1:c.2092C=	XP_016880476.1:p.Leu698=
XM_017024989.1:c.643C=	XP_016880478.1:p.Leu215=
XM_017024990.2:c.595C=	XP_016880479.1:p.Leu199=
XM_024450899.1:c.595C=	XP_024306667.1:p.Leu199=
XM_024450900.1:c.595C=	XP_024306668.1:p.Leu199=
XM_024450901.1:c.595C=	XP_024306669.1:p.Leu199=
XM_024450902.1:c.595C=	XP_024306670.1:p.Leu199=
XR_001752597.1:n.2389C=
XR_001752598.1:n.2389C=
XR_001752599.1:n.2389C=
XR_001752600.1:n.2307C=
NM_005993.5:c.2281C= MANE Select	NP_005984.3:p.Leu761=