Canonical Allele Identifier: CA401633639

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882918A>T (hg19) ; chr17:g.82925042A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1572A>T
ENST00000576677.6:n.1493A>T
ENST00000681983.1:n.2500A>T
ENST00000682099.1:n.1261A>T
ENST00000682213.1:c.*335A>T	ENSP00000508166.1:n.*335A>T
ENST00000682315.1:c.678A>T	ENSP00000507232.1:p.Lys226Asn
ENST00000682479.1:c.2454A>T	ENSP00000508214.1:p.Lys818Asn
ENST00000682610.1:n.1604A>T
ENST00000682654.1:c.*335A>T	ENSP00000507412.1:n.*335A>T
ENST00000682722.1:c.2313A>T	ENSP00000508364.1:p.Lys771Asn
ENST00000683041.1:c.*335A>T	ENSP00000506994.1:n.*335A>T
ENST00000683184.1:c.*2017A>T	ENSP00000507757.1:n.*2017A>T
ENST00000683282.1:c.2280A>T	ENSP00000506913.1:p.Lys760Asn
ENST00000683444.1:c.*1941A>T	ENSP00000507553.1:n.*1941A>T
ENST00000683584.1:n.1187A>T
ENST00000683821.1:c.678A>T	ENSP00000507651.1:p.Lys226Asn
ENST00000683839.1:n.1818A>T
ENST00000684000.1:c.2448A>T	ENSP00000506795.1:p.Lys816Asn
ENST00000684188.1:c.2175A>T	ENSP00000507153.1:p.Lys725Asn
ENST00000684349.1:c.2550A>T	ENSP00000508067.1:p.Lys850Asn
ENST00000684361.1:c.2364A>T	ENSP00000507364.1:p.Lys788Asn
ENST00000684408.1:c.2007A>T	ENSP00000506837.1:p.Lys669Asn
ENST00000684429.1:c.2292A>T	ENSP00000507224.1:p.Lys764Asn
ENST00000684464.1:c.2457A>T	ENSP00000508333.1:p.Lys819Asn
ENST00000684544.1:c.2283A>T	ENSP00000507337.1:p.Lys761Asn
ENST00000684559.1:n.1119A>T
ENST00000684760.1:c.2631A>T	ENSP00000507696.1:p.Lys877Asn
ENST00000684776.1:c.*847A>T	ENSP00000507861.1:n.*847A>T
ENST00000355528.9:c.2364A>T MANE Select	ENSP00000347719.4:p.Lys788Asn
ENST00000355528.8:c.2364A>T	ENSP00000347719.4:p.Lys788Asn
ENST00000539345.6:c.2364A>T	ENSP00000440671.2:p.Lys788Asn
ENST00000571618.5:n.542A>T
ENST00000571796.5:n.1022A>T
ENST00000574422.1:c.678A>T	ENSP00000458599.1:p.Lys226Asn
ENST00000574818.5:n.422A>T
ENST00000574886.1:n.748A>T
ENST00000574975.5:c.741A>T	ENSP00000461680.1:p.Lys247Asn
ENST00000576760.5:c.678A>T	ENSP00000460949.1:p.Lys226Asn
NM_005993.4:c.2364A>T	NP_005984.3:p.Lys788Asn
XM_005256396.3:c.2313A>T	XP_005256453.1:p.Lys771Asn
XM_005256399.3:c.1080A>T	XP_005256456.1:p.Lys360Asn
XM_005256400.3:c.678A>T	XP_005256457.1:p.Lys226Asn
XM_005256401.3:c.678A>T	XP_005256458.1:p.Lys226Asn
XM_005256402.3:c.678A>T	XP_005256459.1:p.Lys226Asn
XM_005256403.3:c.678A>T	XP_005256460.1:p.Lys226Asn
XM_005256404.3:c.678A>T	XP_005256461.1:p.Lys226Asn
XM_006722290.2:c.2283A>T	XP_006722353.1:p.Lys761Asn
XM_006722291.2:c.1068A>T	XP_006722354.1:p.Lys356Asn
XM_006722292.2:c.678A>T	XP_006722355.1:p.Lys226Asn
XM_011523589.1:c.2019A>T	XP_011521891.1:p.Lys673Asn
XM_011523590.1:c.2007A>T	XP_011521892.1:p.Lys669Asn
XM_011523591.1:c.2004A>T	XP_011521893.1:p.Lys668Asn
XM_011523592.1:c.1917A>T	XP_011521894.1:p.Lys639Asn
XM_011523593.1:c.1611A>T	XP_011521895.1:p.Lys537Asn
XM_011523594.1:c.1092A>T	XP_011521896.1:p.Lys364Asn
XM_011523595.1:c.1059A>T	XP_011521897.1:p.Lys353Asn
XM_011523597.1:c.825A>T	XP_011521899.1:p.Lys275Asn
XM_011523598.1:c.822A>T	XP_011521900.1:p.Lys274Asn
XM_011523599.1:c.816A>T	XP_011521901.1:p.Lys272Asn
XM_011523600.1:c.678A>T	XP_011521902.1:p.Lys226Asn
XR_430033.2:n.2472A>T
XM_005256396.4:c.2313A>T	XP_005256453.1:p.Lys771Asn
XM_005256399.5:c.1080A>T	XP_005256456.1:p.Lys360Asn
XM_005256404.4:c.678A>T	XP_005256461.1:p.Lys226Asn
XM_006722291.4:c.1068A>T	XP_006722354.1:p.Lys356Asn
XM_006722292.3:c.678A>T	XP_006722355.1:p.Lys226Asn
XM_011523589.2:c.2019A>T	XP_011521891.1:p.Lys673Asn
XM_011523591.2:c.2004A>T	XP_011521893.1:p.Lys668Asn
XM_011523593.2:c.1611A>T	XP_011521895.1:p.Lys537Asn
XM_011523594.2:c.1092A>T	XP_011521896.1:p.Lys364Asn
XM_011523595.3:c.1059A>T	XP_011521897.1:p.Lys353Asn
XM_011523597.2:c.825A>T	XP_011521899.1:p.Lys275Asn
XM_011523599.2:c.816A>T	XP_011521901.1:p.Lys272Asn
XM_011523600.3:c.678A>T	XP_011521902.1:p.Lys226Asn
XM_017024987.1:c.2175A>T	XP_016880476.1:p.Lys725Asn
XM_017024989.1:c.726A>T	XP_016880478.1:p.Lys242Asn
XM_017024990.2:c.678A>T	XP_016880479.1:p.Lys226Asn
XM_024450899.1:c.678A>T	XP_024306667.1:p.Lys226Asn
XM_024450900.1:c.678A>T	XP_024306668.1:p.Lys226Asn
XM_024450901.1:c.678A>T	XP_024306669.1:p.Lys226Asn
XM_024450902.1:c.678A>T	XP_024306670.1:p.Lys226Asn
XR_001752597.1:n.2472A>T
XR_001752598.1:n.2472A>T
XR_001752599.1:n.2472A>T
XR_001752600.1:n.2390A>T
NM_005993.5:c.2364A>T MANE Select	NP_005984.3:p.Lys788Asn