Canonical Allele Identifier: CA401633643

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882919G>C (hg19) ; chr17:g.82925043G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925043G>C , CM000679.2:g.82925043G>C	GRCh38
NC_000017.10:g.80882919G>C , CM000679.1:g.80882919G>C	GRCh37
NC_000017.9:g.78476208G>C	NCBI36
NG_011721.1:g.177980G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1573G>C
ENST00000576677.6:n.1494G>C
ENST00000681983.1:n.2501G>C
ENST00000682099.1:n.1262G>C
ENST00000682213.1:c.*336G>C	ENSP00000508166.1:n.*336G>C
ENST00000682315.1:c.679G>C	ENSP00000507232.1:p.Gly227Arg
ENST00000682479.1:c.2455G>C	ENSP00000508214.1:p.Gly819Arg
ENST00000682610.1:n.1605G>C
ENST00000682654.1:c.*336G>C	ENSP00000507412.1:n.*336G>C
ENST00000682722.1:c.2314G>C	ENSP00000508364.1:p.Gly772Arg
ENST00000683041.1:c.*336G>C	ENSP00000506994.1:n.*336G>C
ENST00000683184.1:c.*2018G>C	ENSP00000507757.1:n.*2018G>C
ENST00000683282.1:c.2281G>C	ENSP00000506913.1:p.Gly761Arg
ENST00000683444.1:c.*1942G>C	ENSP00000507553.1:n.*1942G>C
ENST00000683584.1:n.1188G>C
ENST00000683821.1:c.679G>C	ENSP00000507651.1:p.Gly227Arg
ENST00000683839.1:n.1819G>C
ENST00000684000.1:c.2449G>C	ENSP00000506795.1:p.Gly817Arg
ENST00000684188.1:c.2176G>C	ENSP00000507153.1:p.Gly726Arg
ENST00000684349.1:c.2551G>C	ENSP00000508067.1:p.Gly851Arg
ENST00000684361.1:c.2365G>C	ENSP00000507364.1:p.Gly789Arg
ENST00000684408.1:c.2008G>C	ENSP00000506837.1:p.Gly670Arg
ENST00000684429.1:c.2293G>C	ENSP00000507224.1:p.Gly765Arg
ENST00000684464.1:c.2458G>C	ENSP00000508333.1:p.Gly820Arg
ENST00000684544.1:c.2284G>C	ENSP00000507337.1:p.Gly762Arg
ENST00000684559.1:n.1120G>C
ENST00000684760.1:c.2632G>C	ENSP00000507696.1:p.Gly878Arg
ENST00000684776.1:c.*848G>C	ENSP00000507861.1:n.*848G>C
ENST00000355528.9:c.2365G>C MANE Select	ENSP00000347719.4:p.Gly789Arg
ENST00000355528.8:c.2365G>C	ENSP00000347719.4:p.Gly789Arg
ENST00000539345.6:c.2365G>C	ENSP00000440671.2:p.Gly789Arg
ENST00000571618.5:n.543G>C
ENST00000571796.5:n.1023G>C
ENST00000574422.1:c.679G>C	ENSP00000458599.1:p.Gly227Arg
ENST00000574818.5:n.423G>C
ENST00000574886.1:n.749G>C
ENST00000574975.5:c.742G>C	ENSP00000461680.1:p.Gly248Arg
ENST00000576760.5:c.679G>C	ENSP00000460949.1:p.Gly227Arg
NM_005993.4:c.2365G>C	NP_005984.3:p.Gly789Arg
XM_005256396.3:c.2314G>C	XP_005256453.1:p.Gly772Arg
XM_005256399.3:c.1081G>C	XP_005256456.1:p.Gly361Arg
XM_005256400.3:c.679G>C	XP_005256457.1:p.Gly227Arg
XM_005256401.3:c.679G>C	XP_005256458.1:p.Gly227Arg
XM_005256402.3:c.679G>C	XP_005256459.1:p.Gly227Arg
XM_005256403.3:c.679G>C	XP_005256460.1:p.Gly227Arg
XM_005256404.3:c.679G>C	XP_005256461.1:p.Gly227Arg
XM_006722290.2:c.2284G>C	XP_006722353.1:p.Gly762Arg
XM_006722291.2:c.1069G>C	XP_006722354.1:p.Gly357Arg
XM_006722292.2:c.679G>C	XP_006722355.1:p.Gly227Arg
XM_011523589.1:c.2020G>C	XP_011521891.1:p.Gly674Arg
XM_011523590.1:c.2008G>C	XP_011521892.1:p.Gly670Arg
XM_011523591.1:c.2005G>C	XP_011521893.1:p.Gly669Arg
XM_011523592.1:c.1918G>C	XP_011521894.1:p.Gly640Arg
XM_011523593.1:c.1612G>C	XP_011521895.1:p.Gly538Arg
XM_011523594.1:c.1093G>C	XP_011521896.1:p.Gly365Arg
XM_011523595.1:c.1060G>C	XP_011521897.1:p.Gly354Arg
XM_011523597.1:c.826G>C	XP_011521899.1:p.Gly276Arg
XM_011523598.1:c.823G>C	XP_011521900.1:p.Gly275Arg
XM_011523599.1:c.817G>C	XP_011521901.1:p.Gly273Arg
XM_011523600.1:c.679G>C	XP_011521902.1:p.Gly227Arg
XR_430033.2:n.2473G>C
XM_005256396.4:c.2314G>C	XP_005256453.1:p.Gly772Arg
XM_005256399.5:c.1081G>C	XP_005256456.1:p.Gly361Arg
XM_005256404.4:c.679G>C	XP_005256461.1:p.Gly227Arg
XM_006722291.4:c.1069G>C	XP_006722354.1:p.Gly357Arg
XM_006722292.3:c.679G>C	XP_006722355.1:p.Gly227Arg
XM_011523589.2:c.2020G>C	XP_011521891.1:p.Gly674Arg
XM_011523591.2:c.2005G>C	XP_011521893.1:p.Gly669Arg
XM_011523593.2:c.1612G>C	XP_011521895.1:p.Gly538Arg
XM_011523594.2:c.1093G>C	XP_011521896.1:p.Gly365Arg
XM_011523595.3:c.1060G>C	XP_011521897.1:p.Gly354Arg
XM_011523597.2:c.826G>C	XP_011521899.1:p.Gly276Arg
XM_011523599.2:c.817G>C	XP_011521901.1:p.Gly273Arg
XM_011523600.3:c.679G>C	XP_011521902.1:p.Gly227Arg
XM_017024987.1:c.2176G>C	XP_016880476.1:p.Gly726Arg
XM_017024989.1:c.727G>C	XP_016880478.1:p.Gly243Arg
XM_017024990.2:c.679G>C	XP_016880479.1:p.Gly227Arg
XM_024450899.1:c.679G>C	XP_024306667.1:p.Gly227Arg
XM_024450900.1:c.679G>C	XP_024306668.1:p.Gly227Arg
XM_024450901.1:c.679G>C	XP_024306669.1:p.Gly227Arg
XM_024450902.1:c.679G>C	XP_024306670.1:p.Gly227Arg
XR_001752597.1:n.2473G>C
XR_001752598.1:n.2473G>C
XR_001752599.1:n.2473G>C
XR_001752600.1:n.2391G>C
NM_005993.5:c.2365G>C MANE Select	NP_005984.3:p.Gly789Arg