Canonical Allele Identifier: CA401633454

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924998-G-T
• MyVariant Identifiers: chr17:g.80882874G>T (hg19) ; chr17:g.82924998G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924998G>T , CM000679.2:g.82924998G>T	GRCh38
NC_000017.10:g.80882874G>T , CM000679.1:g.80882874G>T	GRCh37
NC_000017.9:g.78476163G>T	NCBI36
NG_011721.1:g.177935G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000574886.2:n.1528G>T
ENST00000576677.6:n.1449G>T
ENST00000681983.1:n.2456G>T
ENST00000682099.1:n.1217G>T
ENST00000682213.1:c.*291G>T	ENSP00000508166.1:n.*291G>T
ENST00000682315.1:c.634G>T	ENSP00000507232.1:p.Gly212Cys
ENST00000682479.1:c.2410G>T	ENSP00000508214.1:p.Gly804Cys
ENST00000682610.1:n.1560G>T
ENST00000682654.1:c.*291G>T	ENSP00000507412.1:n.*291G>T
ENST00000682722.1:c.2269G>T	ENSP00000508364.1:p.Gly757Cys
ENST00000683041.1:c.*291G>T	ENSP00000506994.1:n.*291G>T
ENST00000683184.1:c.*1973G>T	ENSP00000507757.1:n.*1973G>T
ENST00000683282.1:c.2236G>T	ENSP00000506913.1:p.Gly746Cys
ENST00000683444.1:c.*1897G>T	ENSP00000507553.1:n.*1897G>T
ENST00000683584.1:n.1143G>T
ENST00000683821.1:c.634G>T	ENSP00000507651.1:p.Gly212Cys
ENST00000683839.1:n.1774G>T
ENST00000684000.1:c.2404G>T	ENSP00000506795.1:p.Gly802Cys
ENST00000684188.1:c.2131G>T	ENSP00000507153.1:p.Gly711Cys
ENST00000684349.1:c.2506G>T	ENSP00000508067.1:p.Gly836Cys
ENST00000684361.1:c.2320G>T	ENSP00000507364.1:p.Gly774Cys
ENST00000684408.1:c.1963G>T	ENSP00000506837.1:p.Gly655Cys
ENST00000684429.1:c.2248G>T	ENSP00000507224.1:p.Gly750Cys
ENST00000684464.1:c.2413G>T	ENSP00000508333.1:p.Gly805Cys
ENST00000684544.1:c.2239G>T	ENSP00000507337.1:p.Gly747Cys
ENST00000684559.1:n.1075G>T
ENST00000684760.1:c.2587G>T	ENSP00000507696.1:p.Gly863Cys
ENST00000684776.1:c.*803G>T	ENSP00000507861.1:n.*803G>T
ENST00000355528.9:c.2320G>T MANE Select	ENSP00000347719.4:p.Gly774Cys
ENST00000355528.8:c.2320G>T	ENSP00000347719.4:p.Gly774Cys
ENST00000539345.6:c.2320G>T	ENSP00000440671.2:p.Gly774Cys
ENST00000571618.5:n.498G>T
ENST00000571796.5:n.978G>T
ENST00000574422.1:c.634G>T	ENSP00000458599.1:p.Gly212Cys
ENST00000574818.5:n.378G>T
ENST00000574886.1:n.704G>T
ENST00000574975.5:c.697G>T	ENSP00000461680.1:p.Gly233Cys
ENST00000576760.5:c.634G>T	ENSP00000460949.1:p.Gly212Cys
NM_005993.4:c.2320G>T	NP_005984.3:p.Gly774Cys
XM_005256396.3:c.2269G>T	XP_005256453.1:p.Gly757Cys
XM_005256399.3:c.1036G>T	XP_005256456.1:p.Gly346Cys
XM_005256400.3:c.634G>T	XP_005256457.1:p.Gly212Cys
XM_005256401.3:c.634G>T	XP_005256458.1:p.Gly212Cys
XM_005256402.3:c.634G>T	XP_005256459.1:p.Gly212Cys
XM_005256403.3:c.634G>T	XP_005256460.1:p.Gly212Cys
XM_005256404.3:c.634G>T	XP_005256461.1:p.Gly212Cys
XM_006722290.2:c.2239G>T	XP_006722353.1:p.Gly747Cys
XM_006722291.2:c.1024G>T	XP_006722354.1:p.Gly342Cys
XM_006722292.2:c.634G>T	XP_006722355.1:p.Gly212Cys
XM_011523589.1:c.1975G>T	XP_011521891.1:p.Gly659Cys
XM_011523590.1:c.1963G>T	XP_011521892.1:p.Gly655Cys
XM_011523591.1:c.1960G>T	XP_011521893.1:p.Gly654Cys
XM_011523592.1:c.1873G>T	XP_011521894.1:p.Gly625Cys
XM_011523593.1:c.1567G>T	XP_011521895.1:p.Gly523Cys
XM_011523594.1:c.1048G>T	XP_011521896.1:p.Gly350Cys
XM_011523595.1:c.1015G>T	XP_011521897.1:p.Gly339Cys
XM_011523596.1:c.*51G>T	XP_011521898.1:n.*51G>T
XM_011523597.1:c.781G>T	XP_011521899.1:p.Gly261Cys
XM_011523598.1:c.778G>T	XP_011521900.1:p.Gly260Cys
XM_011523599.1:c.772G>T	XP_011521901.1:p.Gly258Cys
XM_011523600.1:c.634G>T	XP_011521902.1:p.Gly212Cys
XR_430033.2:n.2428G>T
XM_005256396.4:c.2269G>T	XP_005256453.1:p.Gly757Cys
XM_005256399.5:c.1036G>T	XP_005256456.1:p.Gly346Cys
XM_005256404.4:c.634G>T	XP_005256461.1:p.Gly212Cys
XM_006722291.4:c.1024G>T	XP_006722354.1:p.Gly342Cys
XM_006722292.3:c.634G>T	XP_006722355.1:p.Gly212Cys
XM_011523589.2:c.1975G>T	XP_011521891.1:p.Gly659Cys
XM_011523591.2:c.1960G>T	XP_011521893.1:p.Gly654Cys
XM_011523593.2:c.1567G>T	XP_011521895.1:p.Gly523Cys
XM_011523594.2:c.1048G>T	XP_011521896.1:p.Gly350Cys
XM_011523595.3:c.1015G>T	XP_011521897.1:p.Gly339Cys
XM_011523597.2:c.781G>T	XP_011521899.1:p.Gly261Cys
XM_011523599.2:c.772G>T	XP_011521901.1:p.Gly258Cys
XM_011523600.3:c.634G>T	XP_011521902.1:p.Gly212Cys
XM_017024987.1:c.2131G>T	XP_016880476.1:p.Gly711Cys
XM_017024989.1:c.682G>T	XP_016880478.1:p.Gly228Cys
XM_017024990.2:c.634G>T	XP_016880479.1:p.Gly212Cys
XM_024450899.1:c.634G>T	XP_024306667.1:p.Gly212Cys
XM_024450900.1:c.634G>T	XP_024306668.1:p.Gly212Cys
XM_024450901.1:c.634G>T	XP_024306669.1:p.Gly212Cys
XM_024450902.1:c.634G>T	XP_024306670.1:p.Gly212Cys
XR_001752597.1:n.2428G>T
XR_001752598.1:n.2428G>T
XR_001752599.1:n.2428G>T
XR_001752600.1:n.2346G>T
NM_005993.5:c.2320G>T MANE Select	NP_005984.3:p.Gly774Cys