Canonical Allele Identifier: CA2279278133

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925030C= , CM000679.2:g.82925030C=	GRCh38
NC_000017.10:g.80882906C= , CM000679.1:g.80882906C=	GRCh37
NC_000017.9:g.78476195C=	NCBI36
NG_011721.1:g.177967C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1560C=
ENST00000576677.6:n.1481C=
ENST00000681983.1:n.2488C=
ENST00000682099.1:n.1249C=
ENST00000682213.1:c.*323C=	ENSP00000508166.1:n.*323C=
ENST00000682315.1:c.666C=	ENSP00000507232.1:p.Gly222=
ENST00000682479.1:c.2442C=	ENSP00000508214.1:p.Gly814=
ENST00000682610.1:n.1592C=
ENST00000682654.1:c.*323C=	ENSP00000507412.1:n.*323C=
ENST00000682722.1:c.2301C=	ENSP00000508364.1:p.Gly767=
ENST00000683041.1:c.*323C=	ENSP00000506994.1:n.*323C=
ENST00000683184.1:c.*2005C=	ENSP00000507757.1:n.*2005C=
ENST00000683282.1:c.2268C=	ENSP00000506913.1:p.Gly756=
ENST00000683444.1:c.*1929C=	ENSP00000507553.1:n.*1929C=
ENST00000683584.1:n.1175C=
ENST00000683821.1:c.666C=	ENSP00000507651.1:p.Gly222=
ENST00000683839.1:n.1806C=
ENST00000684000.1:c.2436C=	ENSP00000506795.1:p.Gly812=
ENST00000684188.1:c.2163C=	ENSP00000507153.1:p.Gly721=
ENST00000684349.1:c.2538C=	ENSP00000508067.1:p.Gly846=
ENST00000684361.1:c.2352C=	ENSP00000507364.1:p.Gly784=
ENST00000684408.1:c.1995C=	ENSP00000506837.1:p.Gly665=
ENST00000684429.1:c.2280C=	ENSP00000507224.1:p.Gly760=
ENST00000684464.1:c.2445C=	ENSP00000508333.1:p.Gly815=
ENST00000684544.1:c.2271C=	ENSP00000507337.1:p.Gly757=
ENST00000684559.1:n.1107C=
ENST00000684760.1:c.2619C=	ENSP00000507696.1:p.Gly873=
ENST00000684776.1:c.*835C=	ENSP00000507861.1:n.*835C=
ENST00000355528.9:c.2352C= MANE Select	ENSP00000347719.4:p.Gly784=
ENST00000355528.8:c.2352C=	ENSP00000347719.4:p.Gly784=
ENST00000539345.6:c.2352C=	ENSP00000440671.2:p.Gly784=
ENST00000571618.5:n.530C=
ENST00000571796.5:n.1010C=
ENST00000574422.1:c.666C=	ENSP00000458599.1:p.Gly222=
ENST00000574818.5:n.410C=
ENST00000574886.1:n.736C=
ENST00000574975.5:c.729C=	ENSP00000461680.1:p.Gly243=
ENST00000576760.5:c.666C=	ENSP00000460949.1:p.Gly222=
NM_005993.4:c.2352C=	NP_005984.3:p.Gly784=
XM_005256396.3:c.2301C=	XP_005256453.1:p.Gly767=
XM_005256399.3:c.1068C=	XP_005256456.1:p.Gly356=
XM_005256400.3:c.666C=	XP_005256457.1:p.Gly222=
XM_005256401.3:c.666C=	XP_005256458.1:p.Gly222=
XM_005256402.3:c.666C=	XP_005256459.1:p.Gly222=
XM_005256403.3:c.666C=	XP_005256460.1:p.Gly222=
XM_005256404.3:c.666C=	XP_005256461.1:p.Gly222=
XM_006722290.2:c.2271C=	XP_006722353.1:p.Gly757=
XM_006722291.2:c.1056C=	XP_006722354.1:p.Gly352=
XM_006722292.2:c.666C=	XP_006722355.1:p.Gly222=
XM_011523589.1:c.2007C=	XP_011521891.1:p.Gly669=
XM_011523590.1:c.1995C=	XP_011521892.1:p.Gly665=
XM_011523591.1:c.1992C=	XP_011521893.1:p.Gly664=
XM_011523592.1:c.1905C=	XP_011521894.1:p.Gly635=
XM_011523593.1:c.1599C=	XP_011521895.1:p.Gly533=
XM_011523594.1:c.1080C=	XP_011521896.1:p.Gly360=
XM_011523595.1:c.1047C=	XP_011521897.1:p.Gly349=
XM_011523596.1:c.*83C=	XP_011521898.1:n.*83C=
XM_011523597.1:c.813C=	XP_011521899.1:p.Gly271=
XM_011523598.1:c.810C=	XP_011521900.1:p.Gly270=
XM_011523599.1:c.804C=	XP_011521901.1:p.Gly268=
XM_011523600.1:c.666C=	XP_011521902.1:p.Gly222=
XR_430033.2:n.2460C=
XM_005256396.4:c.2301C=	XP_005256453.1:p.Gly767=
XM_005256399.5:c.1068C=	XP_005256456.1:p.Gly356=
XM_005256404.4:c.666C=	XP_005256461.1:p.Gly222=
XM_006722291.4:c.1056C=	XP_006722354.1:p.Gly352=
XM_006722292.3:c.666C=	XP_006722355.1:p.Gly222=
XM_011523589.2:c.2007C=	XP_011521891.1:p.Gly669=
XM_011523591.2:c.1992C=	XP_011521893.1:p.Gly664=
XM_011523593.2:c.1599C=	XP_011521895.1:p.Gly533=
XM_011523594.2:c.1080C=	XP_011521896.1:p.Gly360=
XM_011523595.3:c.1047C=	XP_011521897.1:p.Gly349=
XM_011523597.2:c.813C=	XP_011521899.1:p.Gly271=
XM_011523599.2:c.804C=	XP_011521901.1:p.Gly268=
XM_011523600.3:c.666C=	XP_011521902.1:p.Gly222=
XM_017024987.1:c.2163C=	XP_016880476.1:p.Gly721=
XM_017024989.1:c.714C=	XP_016880478.1:p.Gly238=
XM_017024990.2:c.666C=	XP_016880479.1:p.Gly222=
XM_024450899.1:c.666C=	XP_024306667.1:p.Gly222=
XM_024450900.1:c.666C=	XP_024306668.1:p.Gly222=
XM_024450901.1:c.666C=	XP_024306669.1:p.Gly222=
XM_024450902.1:c.666C=	XP_024306670.1:p.Gly222=
XR_001752597.1:n.2460C=
XR_001752598.1:n.2460C=
XR_001752599.1:n.2460C=
XR_001752600.1:n.2378C=
NM_005993.5:c.2352C= MANE Select	NP_005984.3:p.Gly784=