Canonical Allele Identifier: CA401633595

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882908T>G (hg19) ; chr17:g.82925032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925032T>G , CM000679.2:g.82925032T>G	GRCh38
NC_000017.10:g.80882908T>G , CM000679.1:g.80882908T>G	GRCh37
NC_000017.9:g.78476197T>G	NCBI36
NG_011721.1:g.177969T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1562T>G
ENST00000576677.6:n.1483T>G
ENST00000681983.1:n.2490T>G
ENST00000682099.1:n.1251T>G
ENST00000682213.1:c.*325T>G	ENSP00000508166.1:n.*325T>G
ENST00000682315.1:c.668T>G	ENSP00000507232.1:p.Phe223Cys
ENST00000682479.1:c.2444T>G	ENSP00000508214.1:p.Phe815Cys
ENST00000682610.1:n.1594T>G
ENST00000682654.1:c.*325T>G	ENSP00000507412.1:n.*325T>G
ENST00000682722.1:c.2303T>G	ENSP00000508364.1:p.Phe768Cys
ENST00000683041.1:c.*325T>G	ENSP00000506994.1:n.*325T>G
ENST00000683184.1:c.*2007T>G	ENSP00000507757.1:n.*2007T>G
ENST00000683282.1:c.2270T>G	ENSP00000506913.1:p.Phe757Cys
ENST00000683444.1:c.*1931T>G	ENSP00000507553.1:n.*1931T>G
ENST00000683584.1:n.1177T>G
ENST00000683821.1:c.668T>G	ENSP00000507651.1:p.Phe223Cys
ENST00000683839.1:n.1808T>G
ENST00000684000.1:c.2438T>G	ENSP00000506795.1:p.Phe813Cys
ENST00000684188.1:c.2165T>G	ENSP00000507153.1:p.Phe722Cys
ENST00000684349.1:c.2540T>G	ENSP00000508067.1:p.Phe847Cys
ENST00000684361.1:c.2354T>G	ENSP00000507364.1:p.Phe785Cys
ENST00000684408.1:c.1997T>G	ENSP00000506837.1:p.Phe666Cys
ENST00000684429.1:c.2282T>G	ENSP00000507224.1:p.Phe761Cys
ENST00000684464.1:c.2447T>G	ENSP00000508333.1:p.Phe816Cys
ENST00000684544.1:c.2273T>G	ENSP00000507337.1:p.Phe758Cys
ENST00000684559.1:n.1109T>G
ENST00000684760.1:c.2621T>G	ENSP00000507696.1:p.Phe874Cys
ENST00000684776.1:c.*837T>G	ENSP00000507861.1:n.*837T>G
ENST00000355528.9:c.2354T>G MANE Select	ENSP00000347719.4:p.Phe785Cys
ENST00000355528.8:c.2354T>G	ENSP00000347719.4:p.Phe785Cys
ENST00000539345.6:c.2354T>G	ENSP00000440671.2:p.Phe785Cys
ENST00000571618.5:n.532T>G
ENST00000571796.5:n.1012T>G
ENST00000574422.1:c.668T>G	ENSP00000458599.1:p.Phe223Cys
ENST00000574818.5:n.412T>G
ENST00000574886.1:n.738T>G
ENST00000574975.5:c.731T>G	ENSP00000461680.1:p.Phe244Cys
ENST00000576760.5:c.668T>G	ENSP00000460949.1:p.Phe223Cys
NM_005993.4:c.2354T>G	NP_005984.3:p.Phe785Cys
XM_005256396.3:c.2303T>G	XP_005256453.1:p.Phe768Cys
XM_005256399.3:c.1070T>G	XP_005256456.1:p.Phe357Cys
XM_005256400.3:c.668T>G	XP_005256457.1:p.Phe223Cys
XM_005256401.3:c.668T>G	XP_005256458.1:p.Phe223Cys
XM_005256402.3:c.668T>G	XP_005256459.1:p.Phe223Cys
XM_005256403.3:c.668T>G	XP_005256460.1:p.Phe223Cys
XM_005256404.3:c.668T>G	XP_005256461.1:p.Phe223Cys
XM_006722290.2:c.2273T>G	XP_006722353.1:p.Phe758Cys
XM_006722291.2:c.1058T>G	XP_006722354.1:p.Phe353Cys
XM_006722292.2:c.668T>G	XP_006722355.1:p.Phe223Cys
XM_011523589.1:c.2009T>G	XP_011521891.1:p.Phe670Cys
XM_011523590.1:c.1997T>G	XP_011521892.1:p.Phe666Cys
XM_011523591.1:c.1994T>G	XP_011521893.1:p.Phe665Cys
XM_011523592.1:c.1907T>G	XP_011521894.1:p.Phe636Cys
XM_011523593.1:c.1601T>G	XP_011521895.1:p.Phe534Cys
XM_011523594.1:c.1082T>G	XP_011521896.1:p.Phe361Cys
XM_011523595.1:c.1049T>G	XP_011521897.1:p.Phe350Cys
XM_011523596.1:c.*85T>G	XP_011521898.1:n.*85T>G
XM_011523597.1:c.815T>G	XP_011521899.1:p.Phe272Cys
XM_011523598.1:c.812T>G	XP_011521900.1:p.Phe271Cys
XM_011523599.1:c.806T>G	XP_011521901.1:p.Phe269Cys
XM_011523600.1:c.668T>G	XP_011521902.1:p.Phe223Cys
XR_430033.2:n.2462T>G
XM_005256396.4:c.2303T>G	XP_005256453.1:p.Phe768Cys
XM_005256399.5:c.1070T>G	XP_005256456.1:p.Phe357Cys
XM_005256404.4:c.668T>G	XP_005256461.1:p.Phe223Cys
XM_006722291.4:c.1058T>G	XP_006722354.1:p.Phe353Cys
XM_006722292.3:c.668T>G	XP_006722355.1:p.Phe223Cys
XM_011523589.2:c.2009T>G	XP_011521891.1:p.Phe670Cys
XM_011523591.2:c.1994T>G	XP_011521893.1:p.Phe665Cys
XM_011523593.2:c.1601T>G	XP_011521895.1:p.Phe534Cys
XM_011523594.2:c.1082T>G	XP_011521896.1:p.Phe361Cys
XM_011523595.3:c.1049T>G	XP_011521897.1:p.Phe350Cys
XM_011523597.2:c.815T>G	XP_011521899.1:p.Phe272Cys
XM_011523599.2:c.806T>G	XP_011521901.1:p.Phe269Cys
XM_011523600.3:c.668T>G	XP_011521902.1:p.Phe223Cys
XM_017024987.1:c.2165T>G	XP_016880476.1:p.Phe722Cys
XM_017024989.1:c.716T>G	XP_016880478.1:p.Phe239Cys
XM_017024990.2:c.668T>G	XP_016880479.1:p.Phe223Cys
XM_024450899.1:c.668T>G	XP_024306667.1:p.Phe223Cys
XM_024450900.1:c.668T>G	XP_024306668.1:p.Phe223Cys
XM_024450901.1:c.668T>G	XP_024306669.1:p.Phe223Cys
XM_024450902.1:c.668T>G	XP_024306670.1:p.Phe223Cys
XR_001752597.1:n.2462T>G
XR_001752598.1:n.2462T>G
XR_001752599.1:n.2462T>G
XR_001752600.1:n.2380T>G
NM_005993.5:c.2354T>G MANE Select	NP_005984.3:p.Phe785Cys