Canonical Allele Identifier: CA401633644

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925043-G-T
• MyVariant Identifiers: chr17:g.80882919G>T (hg19) ; chr17:g.82925043G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1573G>T
ENST00000576677.6:n.1494G>T
ENST00000681983.1:n.2501G>T
ENST00000682099.1:n.1262G>T
ENST00000682213.1:c.*336G>T	ENSP00000508166.1:n.*336G>T
ENST00000682315.1:c.679G>T	ENSP00000507232.1:p.Gly227Cys
ENST00000682479.1:c.2455G>T	ENSP00000508214.1:p.Gly819Cys
ENST00000682610.1:n.1605G>T
ENST00000682654.1:c.*336G>T	ENSP00000507412.1:n.*336G>T
ENST00000682722.1:c.2314G>T	ENSP00000508364.1:p.Gly772Cys
ENST00000683041.1:c.*336G>T	ENSP00000506994.1:n.*336G>T
ENST00000683184.1:c.*2018G>T	ENSP00000507757.1:n.*2018G>T
ENST00000683282.1:c.2281G>T	ENSP00000506913.1:p.Gly761Cys
ENST00000683444.1:c.*1942G>T	ENSP00000507553.1:n.*1942G>T
ENST00000683584.1:n.1188G>T
ENST00000683821.1:c.679G>T	ENSP00000507651.1:p.Gly227Cys
ENST00000683839.1:n.1819G>T
ENST00000684000.1:c.2449G>T	ENSP00000506795.1:p.Gly817Cys
ENST00000684188.1:c.2176G>T	ENSP00000507153.1:p.Gly726Cys
ENST00000684349.1:c.2551G>T	ENSP00000508067.1:p.Gly851Cys
ENST00000684361.1:c.2365G>T	ENSP00000507364.1:p.Gly789Cys
ENST00000684408.1:c.2008G>T	ENSP00000506837.1:p.Gly670Cys
ENST00000684429.1:c.2293G>T	ENSP00000507224.1:p.Gly765Cys
ENST00000684464.1:c.2458G>T	ENSP00000508333.1:p.Gly820Cys
ENST00000684544.1:c.2284G>T	ENSP00000507337.1:p.Gly762Cys
ENST00000684559.1:n.1120G>T
ENST00000684760.1:c.2632G>T	ENSP00000507696.1:p.Gly878Cys
ENST00000684776.1:c.*848G>T	ENSP00000507861.1:n.*848G>T
ENST00000355528.9:c.2365G>T MANE Select	ENSP00000347719.4:p.Gly789Cys
ENST00000355528.8:c.2365G>T	ENSP00000347719.4:p.Gly789Cys
ENST00000539345.6:c.2365G>T	ENSP00000440671.2:p.Gly789Cys
ENST00000571618.5:n.543G>T
ENST00000571796.5:n.1023G>T
ENST00000574422.1:c.679G>T	ENSP00000458599.1:p.Gly227Cys
ENST00000574818.5:n.423G>T
ENST00000574886.1:n.749G>T
ENST00000574975.5:c.742G>T	ENSP00000461680.1:p.Gly248Cys
ENST00000576760.5:c.679G>T	ENSP00000460949.1:p.Gly227Cys
NM_005993.4:c.2365G>T	NP_005984.3:p.Gly789Cys
XM_005256396.3:c.2314G>T	XP_005256453.1:p.Gly772Cys
XM_005256399.3:c.1081G>T	XP_005256456.1:p.Gly361Cys
XM_005256400.3:c.679G>T	XP_005256457.1:p.Gly227Cys
XM_005256401.3:c.679G>T	XP_005256458.1:p.Gly227Cys
XM_005256402.3:c.679G>T	XP_005256459.1:p.Gly227Cys
XM_005256403.3:c.679G>T	XP_005256460.1:p.Gly227Cys
XM_005256404.3:c.679G>T	XP_005256461.1:p.Gly227Cys
XM_006722290.2:c.2284G>T	XP_006722353.1:p.Gly762Cys
XM_006722291.2:c.1069G>T	XP_006722354.1:p.Gly357Cys
XM_006722292.2:c.679G>T	XP_006722355.1:p.Gly227Cys
XM_011523589.1:c.2020G>T	XP_011521891.1:p.Gly674Cys
XM_011523590.1:c.2008G>T	XP_011521892.1:p.Gly670Cys
XM_011523591.1:c.2005G>T	XP_011521893.1:p.Gly669Cys
XM_011523592.1:c.1918G>T	XP_011521894.1:p.Gly640Cys
XM_011523593.1:c.1612G>T	XP_011521895.1:p.Gly538Cys
XM_011523594.1:c.1093G>T	XP_011521896.1:p.Gly365Cys
XM_011523595.1:c.1060G>T	XP_011521897.1:p.Gly354Cys
XM_011523597.1:c.826G>T	XP_011521899.1:p.Gly276Cys
XM_011523598.1:c.823G>T	XP_011521900.1:p.Gly275Cys
XM_011523599.1:c.817G>T	XP_011521901.1:p.Gly273Cys
XM_011523600.1:c.679G>T	XP_011521902.1:p.Gly227Cys
XR_430033.2:n.2473G>T
XM_005256396.4:c.2314G>T	XP_005256453.1:p.Gly772Cys
XM_005256399.5:c.1081G>T	XP_005256456.1:p.Gly361Cys
XM_005256404.4:c.679G>T	XP_005256461.1:p.Gly227Cys
XM_006722291.4:c.1069G>T	XP_006722354.1:p.Gly357Cys
XM_006722292.3:c.679G>T	XP_006722355.1:p.Gly227Cys
XM_011523589.2:c.2020G>T	XP_011521891.1:p.Gly674Cys
XM_011523591.2:c.2005G>T	XP_011521893.1:p.Gly669Cys
XM_011523593.2:c.1612G>T	XP_011521895.1:p.Gly538Cys
XM_011523594.2:c.1093G>T	XP_011521896.1:p.Gly365Cys
XM_011523595.3:c.1060G>T	XP_011521897.1:p.Gly354Cys
XM_011523597.2:c.826G>T	XP_011521899.1:p.Gly276Cys
XM_011523599.2:c.817G>T	XP_011521901.1:p.Gly273Cys
XM_011523600.3:c.679G>T	XP_011521902.1:p.Gly227Cys
XM_017024987.1:c.2176G>T	XP_016880476.1:p.Gly726Cys
XM_017024989.1:c.727G>T	XP_016880478.1:p.Gly243Cys
XM_017024990.2:c.679G>T	XP_016880479.1:p.Gly227Cys
XM_024450899.1:c.679G>T	XP_024306667.1:p.Gly227Cys
XM_024450900.1:c.679G>T	XP_024306668.1:p.Gly227Cys
XM_024450901.1:c.679G>T	XP_024306669.1:p.Gly227Cys
XM_024450902.1:c.679G>T	XP_024306670.1:p.Gly227Cys
XR_001752597.1:n.2473G>T
XR_001752598.1:n.2473G>T
XR_001752599.1:n.2473G>T
XR_001752600.1:n.2391G>T
NM_005993.5:c.2365G>T MANE Select	NP_005984.3:p.Gly789Cys