Canonical Allele Identifier: CA8862745

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82903413G>A , CM000679.2:g.82903413G>A	GRCh38
NC_000017.10:g.80861289G>A , CM000679.1:g.80861289G>A	GRCh37
NC_000017.9:g.78454578G>A	NCBI36
NG_011721.1:g.156350G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681983.1:n.1875G>A
ENST00000682099.1:n.636G>A
ENST00000682213.1:c.1739G>A	ENSP00000508166.1:p.Arg580Gln
ENST00000682225.1:n.1021G>A
ENST00000682315.1:c.53G>A	ENSP00000507232.1:p.Arg18Gln
ENST00000682479.1:c.1829G>A	ENSP00000508214.1:p.Arg610Gln
ENST00000682610.1:n.979G>A
ENST00000682654.1:c.53G>A	ENSP00000507412.1:p.Arg18Gln
ENST00000682722.1:c.1688G>A	ENSP00000508364.1:p.Arg563Gln
ENST00000682921.1:n.1661G>A
ENST00000683009.1:n.1859G>A
ENST00000683041.1:c.1739G>A	ENSP00000506994.1:p.Arg580Gln
ENST00000683184.1:c.*1392G>A	ENSP00000507757.1:n.*1392G>A
ENST00000683282.1:c.1739G>A	ENSP00000506913.1:p.Arg580Gln
ENST00000683444.1:c.*1316G>A	ENSP00000507553.1:n.*1316G>A
ENST00000683584.1:n.562G>A
ENST00000683821.1:c.53G>A	ENSP00000507651.1:p.Arg18Gln
ENST00000683839.1:n.1193G>A
ENST00000684000.1:c.1823G>A	ENSP00000506795.1:p.Arg608Gln
ENST00000684188.1:c.1550G>A	ENSP00000507153.1:p.Arg517Gln
ENST00000684349.1:c.1925G>A	ENSP00000508067.1:p.Arg642Gln
ENST00000684361.1:c.1739G>A	ENSP00000507364.1:p.Arg580Gln
ENST00000684408.1:c.1650-8345G>A	ENSP00000506837.1:n.1650-8345G>A
ENST00000684429.1:c.1667G>A	ENSP00000507224.1:p.Arg556Gln
ENST00000684464.1:c.1739G>A	ENSP00000508333.1:p.Arg580Gln
ENST00000684544.1:c.1658G>A	ENSP00000507337.1:p.Arg553Gln
ENST00000684559.1:n.494G>A
ENST00000684760.1:c.2006G>A	ENSP00000507696.1:p.Arg669Gln
ENST00000684776.1:c.*222G>A	ENSP00000507861.1:n.*222G>A
ENST00000355528.9:c.1739G>A MANE Select	ENSP00000347719.4:p.Arg580Gln
ENST00000355528.8:c.1739G>A	ENSP00000347719.4:p.Arg580Gln
ENST00000539345.6:c.1739G>A	ENSP00000440671.2:p.Arg580Gln
ENST00000571316.5:c.257G>A	ENSP00000458365.1:p.Arg86Gln
ENST00000571712.5:c.-86G>A	ENSP00000459063.1:n.-86G>A
ENST00000571796.5:n.256G>A
ENST00000572953.5:c.197G>A	ENSP00000458556.1:p.Arg66Gln
ENST00000572984.5:c.53G>A	ENSP00000461167.1:p.Arg18Gln
ENST00000574422.1:c.53G>A	ENSP00000458599.1:p.Arg18Gln
ENST00000574801.5:n.353-2523G>A
ENST00000574975.5:c.116G>A	ENSP00000461680.1:p.Arg39Gln
ENST00000576160.6:c.53G>A	ENSP00000458535.2:p.Arg18Gln
ENST00000576760.5:c.53G>A	ENSP00000460949.1:p.Arg18Gln
ENST00000576996.5:c.53G>A	ENSP00000460450.1:p.Arg18Gln
NM_005993.4:c.1739G>A	NP_005984.3:p.Arg580Gln
XM_005256396.3:c.1688G>A	XP_005256453.1:p.Arg563Gln
XM_005256399.3:c.455G>A	XP_005256456.1:p.Arg152Gln
XM_005256400.3:c.53G>A	XP_005256457.1:p.Arg18Gln
XM_005256401.3:c.53G>A	XP_005256458.1:p.Arg18Gln
XM_005256402.3:c.53G>A	XP_005256459.1:p.Arg18Gln
XM_005256403.3:c.53G>A	XP_005256460.1:p.Arg18Gln
XM_005256404.3:c.53G>A	XP_005256461.1:p.Arg18Gln
XM_006722290.2:c.1658G>A	XP_006722353.1:p.Arg553Gln
XM_006722291.2:c.443G>A	XP_006722354.1:p.Arg148Gln
XM_006722292.2:c.53G>A	XP_006722355.1:p.Arg18Gln
XM_011523589.1:c.1394G>A	XP_011521891.1:p.Arg465Gln
XM_011523590.1:c.1650-8345G>A	XP_011521892.1:n.1650-8345G>A
XM_011523591.1:c.1379G>A	XP_011521893.1:p.Arg460Gln
XM_011523592.1:c.1292G>A	XP_011521894.1:p.Arg431Gln
XM_011523593.1:c.986G>A	XP_011521895.1:p.Arg329Gln
XM_011523594.1:c.467G>A	XP_011521896.1:p.Arg156Gln
XM_011523595.1:c.434G>A	XP_011521897.1:p.Arg145Gln
XM_011523596.1:c.1739G>A	XP_011521898.1:p.Arg580Gln
XM_011523597.1:c.200G>A	XP_011521899.1:p.Arg67Gln
XM_011523598.1:c.197G>A	XP_011521900.1:p.Arg66Gln
XM_011523599.1:c.191G>A	XP_011521901.1:p.Arg64Gln
XM_011523600.1:c.53G>A	XP_011521902.1:p.Arg18Gln
XR_430033.2:n.1847G>A
XM_005256396.4:c.1688G>A	XP_005256453.1:p.Arg563Gln
XM_005256399.5:c.455G>A	XP_005256456.1:p.Arg152Gln
XM_005256404.4:c.53G>A	XP_005256461.1:p.Arg18Gln
XM_006722291.4:c.443G>A	XP_006722354.1:p.Arg148Gln
XM_006722292.3:c.53G>A	XP_006722355.1:p.Arg18Gln
XM_011523589.2:c.1394G>A	XP_011521891.1:p.Arg465Gln
XM_011523591.2:c.1379G>A	XP_011521893.1:p.Arg460Gln
XM_011523593.2:c.986G>A	XP_011521895.1:p.Arg329Gln
XM_011523594.2:c.467G>A	XP_011521896.1:p.Arg156Gln
XM_011523595.3:c.434G>A	XP_011521897.1:p.Arg145Gln
XM_011523597.2:c.200G>A	XP_011521899.1:p.Arg67Gln
XM_011523599.2:c.191G>A	XP_011521901.1:p.Arg64Gln
XM_011523600.3:c.53G>A	XP_011521902.1:p.Arg18Gln
XM_017024987.1:c.1550G>A	XP_016880476.1:p.Arg517Gln
XM_017024988.1:c.1739G>A	XP_016880477.1:p.Arg580Gln
XM_017024989.1:c.101G>A	XP_016880478.1:p.Arg34Gln
XM_017024990.2:c.53G>A	XP_016880479.1:p.Arg18Gln
XM_024450899.1:c.53G>A	XP_024306667.1:p.Arg18Gln
XM_024450900.1:c.53G>A	XP_024306668.1:p.Arg18Gln
XM_024450901.1:c.53G>A	XP_024306669.1:p.Arg18Gln
XM_024450902.1:c.53G>A	XP_024306670.1:p.Arg18Gln
XR_001752597.1:n.1847G>A
XR_001752598.1:n.1847G>A
XR_001752599.1:n.1847G>A
XR_001752600.1:n.1847G>A
NM_005993.5:c.1739G>A MANE Select	NP_005984.3:p.Arg580Gln