Canonical Allele Identifier: CA502597468

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882918A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925042A>G , CM000679.2:g.82925042A>G	GRCh38
NC_000017.10:g.80882918A>G , CM000679.1:g.80882918A>G	GRCh37
NC_000017.9:g.78476207A>G	NCBI36
NG_011721.1:g.177979A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1572A>G
ENST00000576677.6:n.1493A>G
ENST00000681983.1:n.2500A>G
ENST00000682099.1:n.1261A>G
ENST00000682213.1:c.*335A>G	ENSP00000508166.1:n.*335A>G
ENST00000682315.1:c.678A>G	ENSP00000507232.1:p.Lys226=
ENST00000682479.1:c.2454A>G	ENSP00000508214.1:p.Lys818=
ENST00000682610.1:n.1604A>G
ENST00000682654.1:c.*335A>G	ENSP00000507412.1:n.*335A>G
ENST00000682722.1:c.2313A>G	ENSP00000508364.1:p.Lys771=
ENST00000683041.1:c.*335A>G	ENSP00000506994.1:n.*335A>G
ENST00000683184.1:c.*2017A>G	ENSP00000507757.1:n.*2017A>G
ENST00000683282.1:c.2280A>G	ENSP00000506913.1:p.Lys760=
ENST00000683444.1:c.*1941A>G	ENSP00000507553.1:n.*1941A>G
ENST00000683584.1:n.1187A>G
ENST00000683821.1:c.678A>G	ENSP00000507651.1:p.Lys226=
ENST00000683839.1:n.1818A>G
ENST00000684000.1:c.2448A>G	ENSP00000506795.1:p.Lys816=
ENST00000684188.1:c.2175A>G	ENSP00000507153.1:p.Lys725=
ENST00000684349.1:c.2550A>G	ENSP00000508067.1:p.Lys850=
ENST00000684361.1:c.2364A>G	ENSP00000507364.1:p.Lys788=
ENST00000684408.1:c.2007A>G	ENSP00000506837.1:p.Lys669=
ENST00000684429.1:c.2292A>G	ENSP00000507224.1:p.Lys764=
ENST00000684464.1:c.2457A>G	ENSP00000508333.1:p.Lys819=
ENST00000684544.1:c.2283A>G	ENSP00000507337.1:p.Lys761=
ENST00000684559.1:n.1119A>G
ENST00000684760.1:c.2631A>G	ENSP00000507696.1:p.Lys877=
ENST00000684776.1:c.*847A>G	ENSP00000507861.1:n.*847A>G
ENST00000355528.9:c.2364A>G MANE Select	ENSP00000347719.4:p.Lys788=
ENST00000355528.8:c.2364A>G	ENSP00000347719.4:p.Lys788=
ENST00000539345.6:c.2364A>G	ENSP00000440671.2:p.Lys788=
ENST00000571618.5:n.542A>G
ENST00000571796.5:n.1022A>G
ENST00000574422.1:c.678A>G	ENSP00000458599.1:p.Lys226=
ENST00000574818.5:n.422A>G
ENST00000574886.1:n.748A>G
ENST00000574975.5:c.741A>G	ENSP00000461680.1:p.Lys247=
ENST00000576760.5:c.678A>G	ENSP00000460949.1:p.Lys226=
NM_005993.4:c.2364A>G	NP_005984.3:p.Lys788=
XM_005256396.3:c.2313A>G	XP_005256453.1:p.Lys771=
XM_005256399.3:c.1080A>G	XP_005256456.1:p.Lys360=
XM_005256400.3:c.678A>G	XP_005256457.1:p.Lys226=
XM_005256401.3:c.678A>G	XP_005256458.1:p.Lys226=
XM_005256402.3:c.678A>G	XP_005256459.1:p.Lys226=
XM_005256403.3:c.678A>G	XP_005256460.1:p.Lys226=
XM_005256404.3:c.678A>G	XP_005256461.1:p.Lys226=
XM_006722290.2:c.2283A>G	XP_006722353.1:p.Lys761=
XM_006722291.2:c.1068A>G	XP_006722354.1:p.Lys356=
XM_006722292.2:c.678A>G	XP_006722355.1:p.Lys226=
XM_011523589.1:c.2019A>G	XP_011521891.1:p.Lys673=
XM_011523590.1:c.2007A>G	XP_011521892.1:p.Lys669=
XM_011523591.1:c.2004A>G	XP_011521893.1:p.Lys668=
XM_011523592.1:c.1917A>G	XP_011521894.1:p.Lys639=
XM_011523593.1:c.1611A>G	XP_011521895.1:p.Lys537=
XM_011523594.1:c.1092A>G	XP_011521896.1:p.Lys364=
XM_011523595.1:c.1059A>G	XP_011521897.1:p.Lys353=
XM_011523597.1:c.825A>G	XP_011521899.1:p.Lys275=
XM_011523598.1:c.822A>G	XP_011521900.1:p.Lys274=
XM_011523599.1:c.816A>G	XP_011521901.1:p.Lys272=
XM_011523600.1:c.678A>G	XP_011521902.1:p.Lys226=
XR_430033.2:n.2472A>G
XM_005256396.4:c.2313A>G	XP_005256453.1:p.Lys771=
XM_005256399.5:c.1080A>G	XP_005256456.1:p.Lys360=
XM_005256404.4:c.678A>G	XP_005256461.1:p.Lys226=
XM_006722291.4:c.1068A>G	XP_006722354.1:p.Lys356=
XM_006722292.3:c.678A>G	XP_006722355.1:p.Lys226=
XM_011523589.2:c.2019A>G	XP_011521891.1:p.Lys673=
XM_011523591.2:c.2004A>G	XP_011521893.1:p.Lys668=
XM_011523593.2:c.1611A>G	XP_011521895.1:p.Lys537=
XM_011523594.2:c.1092A>G	XP_011521896.1:p.Lys364=
XM_011523595.3:c.1059A>G	XP_011521897.1:p.Lys353=
XM_011523597.2:c.825A>G	XP_011521899.1:p.Lys275=
XM_011523599.2:c.816A>G	XP_011521901.1:p.Lys272=
XM_011523600.3:c.678A>G	XP_011521902.1:p.Lys226=
XM_017024987.1:c.2175A>G	XP_016880476.1:p.Lys725=
XM_017024989.1:c.726A>G	XP_016880478.1:p.Lys242=
XM_017024990.2:c.678A>G	XP_016880479.1:p.Lys226=
XM_024450899.1:c.678A>G	XP_024306667.1:p.Lys226=
XM_024450900.1:c.678A>G	XP_024306668.1:p.Lys226=
XM_024450901.1:c.678A>G	XP_024306669.1:p.Lys226=
XM_024450902.1:c.678A>G	XP_024306670.1:p.Lys226=
XR_001752597.1:n.2472A>G
XR_001752598.1:n.2472A>G
XR_001752599.1:n.2472A>G
XR_001752600.1:n.2390A>G
NM_005993.5:c.2364A>G MANE Select	NP_005984.3:p.Lys788=