Canonical Allele Identifier: CA401633478

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882879C>G (hg19) ; chr17:g.82925003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925003C>G , CM000679.2:g.82925003C>G	GRCh38
NC_000017.10:g.80882879C>G , CM000679.1:g.80882879C>G	GRCh37
NC_000017.9:g.78476168C>G	NCBI36
NG_011721.1:g.177940C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000574886.2:n.1533C>G
ENST00000576677.6:n.1454C>G
ENST00000681983.1:n.2461C>G
ENST00000682099.1:n.1222C>G
ENST00000682213.1:c.*296C>G	ENSP00000508166.1:n.*296C>G
ENST00000682315.1:c.639C>G	ENSP00000507232.1:p.Phe213Leu
ENST00000682479.1:c.2415C>G	ENSP00000508214.1:p.Phe805Leu
ENST00000682610.1:n.1565C>G
ENST00000682654.1:c.*296C>G	ENSP00000507412.1:n.*296C>G
ENST00000682722.1:c.2274C>G	ENSP00000508364.1:p.Phe758Leu
ENST00000683041.1:c.*296C>G	ENSP00000506994.1:n.*296C>G
ENST00000683184.1:c.*1978C>G	ENSP00000507757.1:n.*1978C>G
ENST00000683282.1:c.2241C>G	ENSP00000506913.1:p.Phe747Leu
ENST00000683444.1:c.*1902C>G	ENSP00000507553.1:n.*1902C>G
ENST00000683584.1:n.1148C>G
ENST00000683821.1:c.639C>G	ENSP00000507651.1:p.Phe213Leu
ENST00000683839.1:n.1779C>G
ENST00000684000.1:c.2409C>G	ENSP00000506795.1:p.Phe803Leu
ENST00000684188.1:c.2136C>G	ENSP00000507153.1:p.Phe712Leu
ENST00000684349.1:c.2511C>G	ENSP00000508067.1:p.Phe837Leu
ENST00000684361.1:c.2325C>G	ENSP00000507364.1:p.Phe775Leu
ENST00000684408.1:c.1968C>G	ENSP00000506837.1:p.Phe656Leu
ENST00000684429.1:c.2253C>G	ENSP00000507224.1:p.Phe751Leu
ENST00000684464.1:c.2418C>G	ENSP00000508333.1:p.Phe806Leu
ENST00000684544.1:c.2244C>G	ENSP00000507337.1:p.Phe748Leu
ENST00000684559.1:n.1080C>G
ENST00000684760.1:c.2592C>G	ENSP00000507696.1:p.Phe864Leu
ENST00000684776.1:c.*808C>G	ENSP00000507861.1:n.*808C>G
ENST00000355528.9:c.2325C>G MANE Select	ENSP00000347719.4:p.Phe775Leu
ENST00000355528.8:c.2325C>G	ENSP00000347719.4:p.Phe775Leu
ENST00000539345.6:c.2325C>G	ENSP00000440671.2:p.Phe775Leu
ENST00000571618.5:n.503C>G
ENST00000571796.5:n.983C>G
ENST00000574422.1:c.639C>G	ENSP00000458599.1:p.Phe213Leu
ENST00000574818.5:n.383C>G
ENST00000574886.1:n.709C>G
ENST00000574975.5:c.702C>G	ENSP00000461680.1:p.Phe234Leu
ENST00000576760.5:c.639C>G	ENSP00000460949.1:p.Phe213Leu
NM_005993.4:c.2325C>G	NP_005984.3:p.Phe775Leu
XM_005256396.3:c.2274C>G	XP_005256453.1:p.Phe758Leu
XM_005256399.3:c.1041C>G	XP_005256456.1:p.Phe347Leu
XM_005256400.3:c.639C>G	XP_005256457.1:p.Phe213Leu
XM_005256401.3:c.639C>G	XP_005256458.1:p.Phe213Leu
XM_005256402.3:c.639C>G	XP_005256459.1:p.Phe213Leu
XM_005256403.3:c.639C>G	XP_005256460.1:p.Phe213Leu
XM_005256404.3:c.639C>G	XP_005256461.1:p.Phe213Leu
XM_006722290.2:c.2244C>G	XP_006722353.1:p.Phe748Leu
XM_006722291.2:c.1029C>G	XP_006722354.1:p.Phe343Leu
XM_006722292.2:c.639C>G	XP_006722355.1:p.Phe213Leu
XM_011523589.1:c.1980C>G	XP_011521891.1:p.Phe660Leu
XM_011523590.1:c.1968C>G	XP_011521892.1:p.Phe656Leu
XM_011523591.1:c.1965C>G	XP_011521893.1:p.Phe655Leu
XM_011523592.1:c.1878C>G	XP_011521894.1:p.Phe626Leu
XM_011523593.1:c.1572C>G	XP_011521895.1:p.Phe524Leu
XM_011523594.1:c.1053C>G	XP_011521896.1:p.Phe351Leu
XM_011523595.1:c.1020C>G	XP_011521897.1:p.Phe340Leu
XM_011523596.1:c.*56C>G	XP_011521898.1:n.*56C>G
XM_011523597.1:c.786C>G	XP_011521899.1:p.Phe262Leu
XM_011523598.1:c.783C>G	XP_011521900.1:p.Phe261Leu
XM_011523599.1:c.777C>G	XP_011521901.1:p.Phe259Leu
XM_011523600.1:c.639C>G	XP_011521902.1:p.Phe213Leu
XR_430033.2:n.2433C>G
XM_005256396.4:c.2274C>G	XP_005256453.1:p.Phe758Leu
XM_005256399.5:c.1041C>G	XP_005256456.1:p.Phe347Leu
XM_005256404.4:c.639C>G	XP_005256461.1:p.Phe213Leu
XM_006722291.4:c.1029C>G	XP_006722354.1:p.Phe343Leu
XM_006722292.3:c.639C>G	XP_006722355.1:p.Phe213Leu
XM_011523589.2:c.1980C>G	XP_011521891.1:p.Phe660Leu
XM_011523591.2:c.1965C>G	XP_011521893.1:p.Phe655Leu
XM_011523593.2:c.1572C>G	XP_011521895.1:p.Phe524Leu
XM_011523594.2:c.1053C>G	XP_011521896.1:p.Phe351Leu
XM_011523595.3:c.1020C>G	XP_011521897.1:p.Phe340Leu
XM_011523597.2:c.786C>G	XP_011521899.1:p.Phe262Leu
XM_011523599.2:c.777C>G	XP_011521901.1:p.Phe259Leu
XM_011523600.3:c.639C>G	XP_011521902.1:p.Phe213Leu
XM_017024987.1:c.2136C>G	XP_016880476.1:p.Phe712Leu
XM_017024989.1:c.687C>G	XP_016880478.1:p.Phe229Leu
XM_017024990.2:c.639C>G	XP_016880479.1:p.Phe213Leu
XM_024450899.1:c.639C>G	XP_024306667.1:p.Phe213Leu
XM_024450900.1:c.639C>G	XP_024306668.1:p.Phe213Leu
XM_024450901.1:c.639C>G	XP_024306669.1:p.Phe213Leu
XM_024450902.1:c.639C>G	XP_024306670.1:p.Phe213Leu
XR_001752597.1:n.2433C>G
XR_001752598.1:n.2433C>G
XR_001752599.1:n.2433C>G
XR_001752600.1:n.2351C>G
NM_005993.5:c.2325C>G MANE Select	NP_005984.3:p.Phe775Leu