Canonical Allele Identifier: CA401633581

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925028-G-T
• MyVariant Identifiers: chr17:g.80882904G>T (hg19) ; chr17:g.82925028G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925028G>T , CM000679.2:g.82925028G>T	GRCh38
NC_000017.10:g.80882904G>T , CM000679.1:g.80882904G>T	GRCh37
NC_000017.9:g.78476193G>T	NCBI36
NG_011721.1:g.177965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1558G>T
ENST00000576677.6:n.1479G>T
ENST00000681983.1:n.2486G>T
ENST00000682099.1:n.1247G>T
ENST00000682213.1:c.*321G>T	ENSP00000508166.1:n.*321G>T
ENST00000682315.1:c.664G>T	ENSP00000507232.1:p.Gly222Cys
ENST00000682479.1:c.2440G>T	ENSP00000508214.1:p.Gly814Cys
ENST00000682610.1:n.1590G>T
ENST00000682654.1:c.*321G>T	ENSP00000507412.1:n.*321G>T
ENST00000682722.1:c.2299G>T	ENSP00000508364.1:p.Gly767Cys
ENST00000683041.1:c.*321G>T	ENSP00000506994.1:n.*321G>T
ENST00000683184.1:c.*2003G>T	ENSP00000507757.1:n.*2003G>T
ENST00000683282.1:c.2266G>T	ENSP00000506913.1:p.Gly756Cys
ENST00000683444.1:c.*1927G>T	ENSP00000507553.1:n.*1927G>T
ENST00000683584.1:n.1173G>T
ENST00000683821.1:c.664G>T	ENSP00000507651.1:p.Gly222Cys
ENST00000683839.1:n.1804G>T
ENST00000684000.1:c.2434G>T	ENSP00000506795.1:p.Gly812Cys
ENST00000684188.1:c.2161G>T	ENSP00000507153.1:p.Gly721Cys
ENST00000684349.1:c.2536G>T	ENSP00000508067.1:p.Gly846Cys
ENST00000684361.1:c.2350G>T	ENSP00000507364.1:p.Gly784Cys
ENST00000684408.1:c.1993G>T	ENSP00000506837.1:p.Gly665Cys
ENST00000684429.1:c.2278G>T	ENSP00000507224.1:p.Gly760Cys
ENST00000684464.1:c.2443G>T	ENSP00000508333.1:p.Gly815Cys
ENST00000684544.1:c.2269G>T	ENSP00000507337.1:p.Gly757Cys
ENST00000684559.1:n.1105G>T
ENST00000684760.1:c.2617G>T	ENSP00000507696.1:p.Gly873Cys
ENST00000684776.1:c.*833G>T	ENSP00000507861.1:n.*833G>T
ENST00000355528.9:c.2350G>T MANE Select	ENSP00000347719.4:p.Gly784Cys
ENST00000355528.8:c.2350G>T	ENSP00000347719.4:p.Gly784Cys
ENST00000539345.6:c.2350G>T	ENSP00000440671.2:p.Gly784Cys
ENST00000571618.5:n.528G>T
ENST00000571796.5:n.1008G>T
ENST00000574422.1:c.664G>T	ENSP00000458599.1:p.Gly222Cys
ENST00000574818.5:n.408G>T
ENST00000574886.1:n.734G>T
ENST00000574975.5:c.727G>T	ENSP00000461680.1:p.Gly243Cys
ENST00000576760.5:c.664G>T	ENSP00000460949.1:p.Gly222Cys
NM_005993.4:c.2350G>T	NP_005984.3:p.Gly784Cys
XM_005256396.3:c.2299G>T	XP_005256453.1:p.Gly767Cys
XM_005256399.3:c.1066G>T	XP_005256456.1:p.Gly356Cys
XM_005256400.3:c.664G>T	XP_005256457.1:p.Gly222Cys
XM_005256401.3:c.664G>T	XP_005256458.1:p.Gly222Cys
XM_005256402.3:c.664G>T	XP_005256459.1:p.Gly222Cys
XM_005256403.3:c.664G>T	XP_005256460.1:p.Gly222Cys
XM_005256404.3:c.664G>T	XP_005256461.1:p.Gly222Cys
XM_006722290.2:c.2269G>T	XP_006722353.1:p.Gly757Cys
XM_006722291.2:c.1054G>T	XP_006722354.1:p.Gly352Cys
XM_006722292.2:c.664G>T	XP_006722355.1:p.Gly222Cys
XM_011523589.1:c.2005G>T	XP_011521891.1:p.Gly669Cys
XM_011523590.1:c.1993G>T	XP_011521892.1:p.Gly665Cys
XM_011523591.1:c.1990G>T	XP_011521893.1:p.Gly664Cys
XM_011523592.1:c.1903G>T	XP_011521894.1:p.Gly635Cys
XM_011523593.1:c.1597G>T	XP_011521895.1:p.Gly533Cys
XM_011523594.1:c.1078G>T	XP_011521896.1:p.Gly360Cys
XM_011523595.1:c.1045G>T	XP_011521897.1:p.Gly349Cys
XM_011523596.1:c.*81G>T	XP_011521898.1:n.*81G>T
XM_011523597.1:c.811G>T	XP_011521899.1:p.Gly271Cys
XM_011523598.1:c.808G>T	XP_011521900.1:p.Gly270Cys
XM_011523599.1:c.802G>T	XP_011521901.1:p.Gly268Cys
XM_011523600.1:c.664G>T	XP_011521902.1:p.Gly222Cys
XR_430033.2:n.2458G>T
XM_005256396.4:c.2299G>T	XP_005256453.1:p.Gly767Cys
XM_005256399.5:c.1066G>T	XP_005256456.1:p.Gly356Cys
XM_005256404.4:c.664G>T	XP_005256461.1:p.Gly222Cys
XM_006722291.4:c.1054G>T	XP_006722354.1:p.Gly352Cys
XM_006722292.3:c.664G>T	XP_006722355.1:p.Gly222Cys
XM_011523589.2:c.2005G>T	XP_011521891.1:p.Gly669Cys
XM_011523591.2:c.1990G>T	XP_011521893.1:p.Gly664Cys
XM_011523593.2:c.1597G>T	XP_011521895.1:p.Gly533Cys
XM_011523594.2:c.1078G>T	XP_011521896.1:p.Gly360Cys
XM_011523595.3:c.1045G>T	XP_011521897.1:p.Gly349Cys
XM_011523597.2:c.811G>T	XP_011521899.1:p.Gly271Cys
XM_011523599.2:c.802G>T	XP_011521901.1:p.Gly268Cys
XM_011523600.3:c.664G>T	XP_011521902.1:p.Gly222Cys
XM_017024987.1:c.2161G>T	XP_016880476.1:p.Gly721Cys
XM_017024989.1:c.712G>T	XP_016880478.1:p.Gly238Cys
XM_017024990.2:c.664G>T	XP_016880479.1:p.Gly222Cys
XM_024450899.1:c.664G>T	XP_024306667.1:p.Gly222Cys
XM_024450900.1:c.664G>T	XP_024306668.1:p.Gly222Cys
XM_024450901.1:c.664G>T	XP_024306669.1:p.Gly222Cys
XM_024450902.1:c.664G>T	XP_024306670.1:p.Gly222Cys
XR_001752597.1:n.2458G>T
XR_001752598.1:n.2458G>T
XR_001752599.1:n.2458G>T
XR_001752600.1:n.2376G>T
NM_005993.5:c.2350G>T MANE Select	NP_005984.3:p.Gly784Cys