Canonical Allele Identifier: CA401633278

Gene: TBCD

Linked Data

• dbSNP Id: rs374216515
• gnomAD v4: 17-82924951-C-G
• MyVariant Identifiers: chr17:g.80882827C>G (hg19) ; chr17:g.82924951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924951C>G , CM000679.2:g.82924951C>G	GRCh38
NC_000017.10:g.80882827C>G , CM000679.1:g.80882827C>G	GRCh37
NC_000017.9:g.78476116C>G	NCBI36
NG_011721.1:g.177888C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1481C>G
ENST00000576677.6:n.1402C>G
ENST00000681983.1:n.2409C>G
ENST00000682099.1:n.1170C>G
ENST00000682213.1:c.*244C>G	ENSP00000508166.1:n.*244C>G
ENST00000682315.1:c.587C>G	ENSP00000507232.1:p.Thr196Arg
ENST00000682479.1:c.2363C>G	ENSP00000508214.1:p.Thr788Arg
ENST00000682610.1:n.1513C>G
ENST00000682654.1:c.*244C>G	ENSP00000507412.1:n.*244C>G
ENST00000682722.1:c.2222C>G	ENSP00000508364.1:p.Thr741Arg
ENST00000683041.1:c.*244C>G	ENSP00000506994.1:n.*244C>G
ENST00000683184.1:c.*1926C>G	ENSP00000507757.1:n.*1926C>G
ENST00000683282.1:c.2189C>G	ENSP00000506913.1:p.Thr730Arg
ENST00000683444.1:c.*1850C>G	ENSP00000507553.1:n.*1850C>G
ENST00000683584.1:n.1096C>G
ENST00000683821.1:c.587C>G	ENSP00000507651.1:p.Thr196Arg
ENST00000683839.1:n.1727C>G
ENST00000684000.1:c.2357C>G	ENSP00000506795.1:p.Thr786Arg
ENST00000684188.1:c.2084C>G	ENSP00000507153.1:p.Thr695Arg
ENST00000684349.1:c.2459C>G	ENSP00000508067.1:p.Thr820Arg
ENST00000684361.1:c.2273C>G	ENSP00000507364.1:p.Thr758Arg
ENST00000684408.1:c.1916C>G	ENSP00000506837.1:p.Thr639Arg
ENST00000684429.1:c.2201C>G	ENSP00000507224.1:p.Thr734Arg
ENST00000684464.1:c.2366C>G	ENSP00000508333.1:p.Thr789Arg
ENST00000684544.1:c.2192C>G	ENSP00000507337.1:p.Thr731Arg
ENST00000684559.1:n.1028C>G
ENST00000684760.1:c.2540C>G	ENSP00000507696.1:p.Thr847Arg
ENST00000684776.1:c.*756C>G	ENSP00000507861.1:n.*756C>G
ENST00000355528.9:c.2273C>G MANE Select	ENSP00000347719.4:p.Thr758Arg
ENST00000355528.8:c.2273C>G	ENSP00000347719.4:p.Thr758Arg
ENST00000539345.6:c.2273C>G	ENSP00000440671.2:p.Thr758Arg
ENST00000571618.5:n.451C>G
ENST00000571796.5:n.931C>G
ENST00000574422.1:c.587C>G	ENSP00000458599.1:p.Thr196Arg
ENST00000574818.5:n.331C>G
ENST00000574886.1:n.657C>G
ENST00000574975.5:c.650C>G	ENSP00000461680.1:p.Thr217Arg
ENST00000576760.5:c.587C>G	ENSP00000460949.1:p.Thr196Arg
NM_005993.4:c.2273C>G	NP_005984.3:p.Thr758Arg
XM_005256396.3:c.2222C>G	XP_005256453.1:p.Thr741Arg
XM_005256399.3:c.989C>G	XP_005256456.1:p.Thr330Arg
XM_005256400.3:c.587C>G	XP_005256457.1:p.Thr196Arg
XM_005256401.3:c.587C>G	XP_005256458.1:p.Thr196Arg
XM_005256402.3:c.587C>G	XP_005256459.1:p.Thr196Arg
XM_005256403.3:c.587C>G	XP_005256460.1:p.Thr196Arg
XM_005256404.3:c.587C>G	XP_005256461.1:p.Thr196Arg
XM_006722290.2:c.2192C>G	XP_006722353.1:p.Thr731Arg
XM_006722291.2:c.977C>G	XP_006722354.1:p.Thr326Arg
XM_006722292.2:c.587C>G	XP_006722355.1:p.Thr196Arg
XM_011523589.1:c.1928C>G	XP_011521891.1:p.Thr643Arg
XM_011523590.1:c.1916C>G	XP_011521892.1:p.Thr639Arg
XM_011523591.1:c.1913C>G	XP_011521893.1:p.Thr638Arg
XM_011523592.1:c.1826C>G	XP_011521894.1:p.Thr609Arg
XM_011523593.1:c.1520C>G	XP_011521895.1:p.Thr507Arg
XM_011523594.1:c.1001C>G	XP_011521896.1:p.Thr334Arg
XM_011523595.1:c.968C>G	XP_011521897.1:p.Thr323Arg
XM_011523596.1:c.*4C>G	XP_011521898.1:n.*4C>G
XM_011523597.1:c.734C>G	XP_011521899.1:p.Thr245Arg
XM_011523598.1:c.731C>G	XP_011521900.1:p.Thr244Arg
XM_011523599.1:c.725C>G	XP_011521901.1:p.Thr242Arg
XM_011523600.1:c.587C>G	XP_011521902.1:p.Thr196Arg
XR_430033.2:n.2381C>G
XM_005256396.4:c.2222C>G	XP_005256453.1:p.Thr741Arg
XM_005256399.5:c.989C>G	XP_005256456.1:p.Thr330Arg
XM_005256404.4:c.587C>G	XP_005256461.1:p.Thr196Arg
XM_006722291.4:c.977C>G	XP_006722354.1:p.Thr326Arg
XM_006722292.3:c.587C>G	XP_006722355.1:p.Thr196Arg
XM_011523589.2:c.1928C>G	XP_011521891.1:p.Thr643Arg
XM_011523591.2:c.1913C>G	XP_011521893.1:p.Thr638Arg
XM_011523593.2:c.1520C>G	XP_011521895.1:p.Thr507Arg
XM_011523594.2:c.1001C>G	XP_011521896.1:p.Thr334Arg
XM_011523595.3:c.968C>G	XP_011521897.1:p.Thr323Arg
XM_011523597.2:c.734C>G	XP_011521899.1:p.Thr245Arg
XM_011523599.2:c.725C>G	XP_011521901.1:p.Thr242Arg
XM_011523600.3:c.587C>G	XP_011521902.1:p.Thr196Arg
XM_017024987.1:c.2084C>G	XP_016880476.1:p.Thr695Arg
XM_017024989.1:c.635C>G	XP_016880478.1:p.Thr212Arg
XM_017024990.2:c.587C>G	XP_016880479.1:p.Thr196Arg
XM_024450899.1:c.587C>G	XP_024306667.1:p.Thr196Arg
XM_024450900.1:c.587C>G	XP_024306668.1:p.Thr196Arg
XM_024450901.1:c.587C>G	XP_024306669.1:p.Thr196Arg
XM_024450902.1:c.587C>G	XP_024306670.1:p.Thr196Arg
XR_001752597.1:n.2381C>G
XR_001752598.1:n.2381C>G
XR_001752599.1:n.2381C>G
XR_001752600.1:n.2299C>G
NM_005993.5:c.2273C>G MANE Select	NP_005984.3:p.Thr758Arg