Canonical Allele Identifier: CA8863484

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82937377G>A , CM000679.2:g.82937377G>A	GRCh38
NC_000017.10:g.80895253G>A , CM000679.1:g.80895253G>A	GRCh37
NC_000017.9:g.78488542G>A	NCBI36
NG_011721.1:g.190314G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005993.5:c.3281+17G>A MANE Select	NP_005984.3:n.3281+17G>A
ENST00000355528.9:c.3281+17G>A MANE Select	ENSP00000347719.4:n.3281+17G>A
NM_005993.4:c.3281+17G>A	NP_005984.3:n.3281+17G>A
ENST00000355528.8:c.3281+17G>A	ENSP00000347719.4:n.3281+17G>A
ENST00000539345.6:c.3281+17G>A	ENSP00000440671.2:n.3281+17G>A
ENST00000573364.1:n.156G>A
ENST00000574886.2:n.2609+17G>A
ENST00000575132.5:n.474+17G>A
ENST00000576432.5:n.145+17G>A
ENST00000576603.5:n.359+17G>A
ENST00000576677.5:n.1387+17G>A
ENST00000576677.6:n.3431+17G>A
ENST00000577051.1:c.485+17G>A	ENSP00000458512.1:n.485+17G>A
ENST00000681983.1:n.4438+17G>A
ENST00000682099.1:n.2178+17G>A
ENST00000682213.1:c.*1252+17G>A	ENSP00000508166.1:n.*1252+17G>A
ENST00000682315.1:c.1595+17G>A	ENSP00000507232.1:n.1595+17G>A
ENST00000682479.1:c.3371+17G>A	ENSP00000508214.1:n.3371+17G>A
ENST00000682610.1:n.2521+17G>A
ENST00000682654.1:c.*1252+17G>A	ENSP00000507412.1:n.*1252+17G>A
ENST00000682722.1:c.3230+17G>A	ENSP00000508364.1:n.3230+17G>A
ENST00000683041.1:c.*1252+17G>A	ENSP00000506994.1:n.*1252+17G>A
ENST00000683184.1:c.*2934+17G>A	ENSP00000507757.1:n.*2934+17G>A
ENST00000683282.1:c.3197+17G>A	ENSP00000506913.1:n.3197+17G>A
ENST00000683444.1:c.*2858+17G>A	ENSP00000507553.1:n.*2858+17G>A
ENST00000683584.1:n.2104+17G>A
ENST00000683821.1:c.1595+17G>A	ENSP00000507651.1:n.1595+17G>A
ENST00000683839.1:n.2735+17G>A
ENST00000684000.1:c.3365+17G>A	ENSP00000506795.1:n.3365+17G>A
ENST00000684188.1:c.3092+17G>A	ENSP00000507153.1:n.3092+17G>A
ENST00000684349.1:c.3467+17G>A	ENSP00000508067.1:n.3467+17G>A
ENST00000684361.1:c.*638+17G>A	ENSP00000507364.1:n.*638+17G>A
ENST00000684408.1:c.2924+17G>A	ENSP00000506837.1:n.2924+17G>A
ENST00000684429.1:c.3209+17G>A	ENSP00000507224.1:n.3209+17G>A
ENST00000684464.1:c.3374+17G>A	ENSP00000508333.1:n.3374+17G>A
ENST00000684544.1:c.3200+17G>A	ENSP00000507337.1:n.3200+17G>A
ENST00000684559.1:n.2036+17G>A
ENST00000684760.1:c.3548+17G>A	ENSP00000507696.1:n.3548+17G>A
ENST00000684776.1:c.*1764+17G>A	ENSP00000507861.1:n.*1764+17G>A
XM_005256396.3:c.3230+17G>A	XP_005256453.1:n.3230+17G>A
XM_005256396.4:c.3230+17G>A	XP_005256453.1:n.3230+17G>A
XM_005256399.3:c.1997+17G>A	XP_005256456.1:n.1997+17G>A
XM_005256399.5:c.1997+17G>A	XP_005256456.1:n.1997+17G>A
XM_005256400.3:c.1595+17G>A	XP_005256457.1:n.1595+17G>A
XM_005256401.3:c.1595+17G>A	XP_005256458.1:n.1595+17G>A
XM_005256402.3:c.1595+17G>A	XP_005256459.1:n.1595+17G>A
XM_005256403.3:c.1595+17G>A	XP_005256460.1:n.1595+17G>A
XM_005256404.3:c.1595+17G>A	XP_005256461.1:n.1595+17G>A
XM_005256404.4:c.1595+17G>A	XP_005256461.1:n.1595+17G>A
XM_006722290.2:c.3200+17G>A	XP_006722353.1:n.3200+17G>A
XM_006722291.2:c.1985+17G>A	XP_006722354.1:n.1985+17G>A
XM_006722291.4:c.1985+17G>A	XP_006722354.1:n.1985+17G>A
XM_006722292.2:c.1595+17G>A	XP_006722355.1:n.1595+17G>A
XM_006722292.3:c.1595+17G>A	XP_006722355.1:n.1595+17G>A
XM_011523589.1:c.2936+17G>A	XP_011521891.1:n.2936+17G>A
XM_011523589.2:c.2936+17G>A	XP_011521891.1:n.2936+17G>A
XM_011523590.1:c.2924+17G>A	XP_011521892.1:n.2924+17G>A
XM_011523591.1:c.2921+17G>A	XP_011521893.1:n.2921+17G>A
XM_011523591.2:c.2921+17G>A	XP_011521893.1:n.2921+17G>A
XM_011523592.1:c.2834+17G>A	XP_011521894.1:n.2834+17G>A
XM_011523593.1:c.2528+17G>A	XP_011521895.1:n.2528+17G>A
XM_011523593.2:c.2528+17G>A	XP_011521895.1:n.2528+17G>A
XM_011523594.1:c.2009+17G>A	XP_011521896.1:n.2009+17G>A
XM_011523594.2:c.2009+17G>A	XP_011521896.1:n.2009+17G>A
XM_011523595.1:c.1976+17G>A	XP_011521897.1:n.1976+17G>A
XM_011523595.3:c.1976+17G>A	XP_011521897.1:n.1976+17G>A
XM_011523597.1:c.1742+17G>A	XP_011521899.1:n.1742+17G>A
XM_011523597.2:c.1742+17G>A	XP_011521899.1:n.1742+17G>A
XM_011523598.1:c.1739+17G>A	XP_011521900.1:n.1739+17G>A
XM_011523599.1:c.1733+17G>A	XP_011521901.1:n.1733+17G>A
XM_011523599.2:c.1733+17G>A	XP_011521901.1:n.1733+17G>A
XM_011523600.1:c.1595+17G>A	XP_011521902.1:n.1595+17G>A
XM_011523600.3:c.1595+17G>A	XP_011521902.1:n.1595+17G>A
XM_017024987.1:c.3092+17G>A	XP_016880476.1:n.3092+17G>A
XM_017024989.1:c.1643+17G>A	XP_016880478.1:n.1643+17G>A
XM_017024990.2:c.1595+17G>A	XP_016880479.1:n.1595+17G>A
XM_024450899.1:c.1595+17G>A	XP_024306667.1:n.1595+17G>A
XM_024450900.1:c.1595+17G>A	XP_024306668.1:n.1595+17G>A
XM_024450901.1:c.1595+17G>A	XP_024306669.1:n.1595+17G>A
XM_024450902.1:c.1595+17G>A	XP_024306670.1:n.1595+17G>A
XR_001752597.1:n.3509+17G>A
XR_001752598.1:n.3767+17G>A
XR_001752599.1:n.3887+17G>A
XR_001752600.1:n.4328+17G>A
XR_430033.2:n.3389+17G>A