Canonical Allele Identifier: CA2279278117

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925019G= , CM000679.2:g.82925019G=	GRCh38
NC_000017.10:g.80882895G= , CM000679.1:g.80882895G=	GRCh37
NC_000017.9:g.78476184G=	NCBI36
NG_011721.1:g.177956G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1549G=
ENST00000576677.6:n.1470G=
ENST00000681983.1:n.2477G=
ENST00000682099.1:n.1238G=
ENST00000682213.1:c.*312G=	ENSP00000508166.1:n.*312G=
ENST00000682315.1:c.655G=	ENSP00000507232.1:p.Ala219=
ENST00000682479.1:c.2431G=	ENSP00000508214.1:p.Ala811=
ENST00000682610.1:n.1581G=
ENST00000682654.1:c.*312G=	ENSP00000507412.1:n.*312G=
ENST00000682722.1:c.2290G=	ENSP00000508364.1:p.Ala764=
ENST00000683041.1:c.*312G=	ENSP00000506994.1:n.*312G=
ENST00000683184.1:c.*1994G=	ENSP00000507757.1:n.*1994G=
ENST00000683282.1:c.2257G=	ENSP00000506913.1:p.Ala753=
ENST00000683444.1:c.*1918G=	ENSP00000507553.1:n.*1918G=
ENST00000683584.1:n.1164G=
ENST00000683821.1:c.655G=	ENSP00000507651.1:p.Ala219=
ENST00000683839.1:n.1795G=
ENST00000684000.1:c.2425G=	ENSP00000506795.1:p.Ala809=
ENST00000684188.1:c.2152G=	ENSP00000507153.1:p.Ala718=
ENST00000684349.1:c.2527G=	ENSP00000508067.1:p.Ala843=
ENST00000684361.1:c.2341G=	ENSP00000507364.1:p.Ala781=
ENST00000684408.1:c.1984G=	ENSP00000506837.1:p.Ala662=
ENST00000684429.1:c.2269G=	ENSP00000507224.1:p.Ala757=
ENST00000684464.1:c.2434G=	ENSP00000508333.1:p.Ala812=
ENST00000684544.1:c.2260G=	ENSP00000507337.1:p.Ala754=
ENST00000684559.1:n.1096G=
ENST00000684760.1:c.2608G=	ENSP00000507696.1:p.Ala870=
ENST00000684776.1:c.*824G=	ENSP00000507861.1:n.*824G=
ENST00000355528.9:c.2341G= MANE Select	ENSP00000347719.4:p.Ala781=
ENST00000355528.8:c.2341G=	ENSP00000347719.4:p.Ala781=
ENST00000539345.6:c.2341G=	ENSP00000440671.2:p.Ala781=
ENST00000571618.5:n.519G=
ENST00000571796.5:n.999G=
ENST00000574422.1:c.655G=	ENSP00000458599.1:p.Ala219=
ENST00000574818.5:n.399G=
ENST00000574886.1:n.725G=
ENST00000574975.5:c.718G=	ENSP00000461680.1:p.Ala240=
ENST00000576760.5:c.655G=	ENSP00000460949.1:p.Ala219=
NM_005993.4:c.2341G=	NP_005984.3:p.Ala781=
XM_005256396.3:c.2290G=	XP_005256453.1:p.Ala764=
XM_005256399.3:c.1057G=	XP_005256456.1:p.Ala353=
XM_005256400.3:c.655G=	XP_005256457.1:p.Ala219=
XM_005256401.3:c.655G=	XP_005256458.1:p.Ala219=
XM_005256402.3:c.655G=	XP_005256459.1:p.Ala219=
XM_005256403.3:c.655G=	XP_005256460.1:p.Ala219=
XM_005256404.3:c.655G=	XP_005256461.1:p.Ala219=
XM_006722290.2:c.2260G=	XP_006722353.1:p.Ala754=
XM_006722291.2:c.1045G=	XP_006722354.1:p.Ala349=
XM_006722292.2:c.655G=	XP_006722355.1:p.Ala219=
XM_011523589.1:c.1996G=	XP_011521891.1:p.Ala666=
XM_011523590.1:c.1984G=	XP_011521892.1:p.Ala662=
XM_011523591.1:c.1981G=	XP_011521893.1:p.Ala661=
XM_011523592.1:c.1894G=	XP_011521894.1:p.Ala632=
XM_011523593.1:c.1588G=	XP_011521895.1:p.Ala530=
XM_011523594.1:c.1069G=	XP_011521896.1:p.Ala357=
XM_011523595.1:c.1036G=	XP_011521897.1:p.Ala346=
XM_011523596.1:c.*72G=	XP_011521898.1:n.*72G=
XM_011523597.1:c.802G=	XP_011521899.1:p.Ala268=
XM_011523598.1:c.799G=	XP_011521900.1:p.Ala267=
XM_011523599.1:c.793G=	XP_011521901.1:p.Ala265=
XM_011523600.1:c.655G=	XP_011521902.1:p.Ala219=
XR_430033.2:n.2449G=
XM_005256396.4:c.2290G=	XP_005256453.1:p.Ala764=
XM_005256399.5:c.1057G=	XP_005256456.1:p.Ala353=
XM_005256404.4:c.655G=	XP_005256461.1:p.Ala219=
XM_006722291.4:c.1045G=	XP_006722354.1:p.Ala349=
XM_006722292.3:c.655G=	XP_006722355.1:p.Ala219=
XM_011523589.2:c.1996G=	XP_011521891.1:p.Ala666=
XM_011523591.2:c.1981G=	XP_011521893.1:p.Ala661=
XM_011523593.2:c.1588G=	XP_011521895.1:p.Ala530=
XM_011523594.2:c.1069G=	XP_011521896.1:p.Ala357=
XM_011523595.3:c.1036G=	XP_011521897.1:p.Ala346=
XM_011523597.2:c.802G=	XP_011521899.1:p.Ala268=
XM_011523599.2:c.793G=	XP_011521901.1:p.Ala265=
XM_011523600.3:c.655G=	XP_011521902.1:p.Ala219=
XM_017024987.1:c.2152G=	XP_016880476.1:p.Ala718=
XM_017024989.1:c.703G=	XP_016880478.1:p.Ala235=
XM_017024990.2:c.655G=	XP_016880479.1:p.Ala219=
XM_024450899.1:c.655G=	XP_024306667.1:p.Ala219=
XM_024450900.1:c.655G=	XP_024306668.1:p.Ala219=
XM_024450901.1:c.655G=	XP_024306669.1:p.Ala219=
XM_024450902.1:c.655G=	XP_024306670.1:p.Ala219=
XR_001752597.1:n.2449G=
XR_001752598.1:n.2449G=
XR_001752599.1:n.2449G=
XR_001752600.1:n.2367G=
NM_005993.5:c.2341G= MANE Select	NP_005984.3:p.Ala781=