Canonical Allele Identifier: CA401633426

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882868C>G (hg19) ; chr17:g.82924992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924992C>G , CM000679.2:g.82924992C>G	GRCh38
NC_000017.10:g.80882868C>G , CM000679.1:g.80882868C>G	GRCh37
NC_000017.9:g.78476157C>G	NCBI36
NG_011721.1:g.177929C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000574886.2:n.1522C>G
ENST00000576677.6:n.1443C>G
ENST00000681983.1:n.2450C>G
ENST00000682099.1:n.1211C>G
ENST00000682213.1:c.*285C>G	ENSP00000508166.1:n.*285C>G
ENST00000682315.1:c.628C>G	ENSP00000507232.1:p.Arg210Gly
ENST00000682479.1:c.2404C>G	ENSP00000508214.1:p.Arg802Gly
ENST00000682610.1:n.1554C>G
ENST00000682654.1:c.*285C>G	ENSP00000507412.1:n.*285C>G
ENST00000682722.1:c.2263C>G	ENSP00000508364.1:p.Arg755Gly
ENST00000683041.1:c.*285C>G	ENSP00000506994.1:n.*285C>G
ENST00000683184.1:c.*1967C>G	ENSP00000507757.1:n.*1967C>G
ENST00000683282.1:c.2230C>G	ENSP00000506913.1:p.Arg744Gly
ENST00000683444.1:c.*1891C>G	ENSP00000507553.1:n.*1891C>G
ENST00000683584.1:n.1137C>G
ENST00000683821.1:c.628C>G	ENSP00000507651.1:p.Arg210Gly
ENST00000683839.1:n.1768C>G
ENST00000684000.1:c.2398C>G	ENSP00000506795.1:p.Arg800Gly
ENST00000684188.1:c.2125C>G	ENSP00000507153.1:p.Arg709Gly
ENST00000684349.1:c.2500C>G	ENSP00000508067.1:p.Arg834Gly
ENST00000684361.1:c.2314C>G	ENSP00000507364.1:p.Arg772Gly
ENST00000684408.1:c.1957C>G	ENSP00000506837.1:p.Arg653Gly
ENST00000684429.1:c.2242C>G	ENSP00000507224.1:p.Arg748Gly
ENST00000684464.1:c.2407C>G	ENSP00000508333.1:p.Arg803Gly
ENST00000684544.1:c.2233C>G	ENSP00000507337.1:p.Arg745Gly
ENST00000684559.1:n.1069C>G
ENST00000684760.1:c.2581C>G	ENSP00000507696.1:p.Arg861Gly
ENST00000684776.1:c.*797C>G	ENSP00000507861.1:n.*797C>G
ENST00000355528.9:c.2314C>G MANE Select	ENSP00000347719.4:p.Arg772Gly
ENST00000355528.8:c.2314C>G	ENSP00000347719.4:p.Arg772Gly
ENST00000539345.6:c.2314C>G	ENSP00000440671.2:p.Arg772Gly
ENST00000571618.5:n.492C>G
ENST00000571796.5:n.972C>G
ENST00000574422.1:c.628C>G	ENSP00000458599.1:p.Arg210Gly
ENST00000574818.5:n.372C>G
ENST00000574886.1:n.698C>G
ENST00000574975.5:c.691C>G	ENSP00000461680.1:p.Arg231Gly
ENST00000576760.5:c.628C>G	ENSP00000460949.1:p.Arg210Gly
NM_005993.4:c.2314C>G	NP_005984.3:p.Arg772Gly
XM_005256396.3:c.2263C>G	XP_005256453.1:p.Arg755Gly
XM_005256399.3:c.1030C>G	XP_005256456.1:p.Arg344Gly
XM_005256400.3:c.628C>G	XP_005256457.1:p.Arg210Gly
XM_005256401.3:c.628C>G	XP_005256458.1:p.Arg210Gly
XM_005256402.3:c.628C>G	XP_005256459.1:p.Arg210Gly
XM_005256403.3:c.628C>G	XP_005256460.1:p.Arg210Gly
XM_005256404.3:c.628C>G	XP_005256461.1:p.Arg210Gly
XM_006722290.2:c.2233C>G	XP_006722353.1:p.Arg745Gly
XM_006722291.2:c.1018C>G	XP_006722354.1:p.Arg340Gly
XM_006722292.2:c.628C>G	XP_006722355.1:p.Arg210Gly
XM_011523589.1:c.1969C>G	XP_011521891.1:p.Arg657Gly
XM_011523590.1:c.1957C>G	XP_011521892.1:p.Arg653Gly
XM_011523591.1:c.1954C>G	XP_011521893.1:p.Arg652Gly
XM_011523592.1:c.1867C>G	XP_011521894.1:p.Arg623Gly
XM_011523593.1:c.1561C>G	XP_011521895.1:p.Arg521Gly
XM_011523594.1:c.1042C>G	XP_011521896.1:p.Arg348Gly
XM_011523595.1:c.1009C>G	XP_011521897.1:p.Arg337Gly
XM_011523596.1:c.*45C>G	XP_011521898.1:n.*45C>G
XM_011523597.1:c.775C>G	XP_011521899.1:p.Arg259Gly
XM_011523598.1:c.772C>G	XP_011521900.1:p.Arg258Gly
XM_011523599.1:c.766C>G	XP_011521901.1:p.Arg256Gly
XM_011523600.1:c.628C>G	XP_011521902.1:p.Arg210Gly
XR_430033.2:n.2422C>G
XM_005256396.4:c.2263C>G	XP_005256453.1:p.Arg755Gly
XM_005256399.5:c.1030C>G	XP_005256456.1:p.Arg344Gly
XM_005256404.4:c.628C>G	XP_005256461.1:p.Arg210Gly
XM_006722291.4:c.1018C>G	XP_006722354.1:p.Arg340Gly
XM_006722292.3:c.628C>G	XP_006722355.1:p.Arg210Gly
XM_011523589.2:c.1969C>G	XP_011521891.1:p.Arg657Gly
XM_011523591.2:c.1954C>G	XP_011521893.1:p.Arg652Gly
XM_011523593.2:c.1561C>G	XP_011521895.1:p.Arg521Gly
XM_011523594.2:c.1042C>G	XP_011521896.1:p.Arg348Gly
XM_011523595.3:c.1009C>G	XP_011521897.1:p.Arg337Gly
XM_011523597.2:c.775C>G	XP_011521899.1:p.Arg259Gly
XM_011523599.2:c.766C>G	XP_011521901.1:p.Arg256Gly
XM_011523600.3:c.628C>G	XP_011521902.1:p.Arg210Gly
XM_017024987.1:c.2125C>G	XP_016880476.1:p.Arg709Gly
XM_017024989.1:c.676C>G	XP_016880478.1:p.Arg226Gly
XM_017024990.2:c.628C>G	XP_016880479.1:p.Arg210Gly
XM_024450899.1:c.628C>G	XP_024306667.1:p.Arg210Gly
XM_024450900.1:c.628C>G	XP_024306668.1:p.Arg210Gly
XM_024450901.1:c.628C>G	XP_024306669.1:p.Arg210Gly
XM_024450902.1:c.628C>G	XP_024306670.1:p.Arg210Gly
XR_001752597.1:n.2422C>G
XR_001752598.1:n.2422C>G
XR_001752599.1:n.2422C>G
XR_001752600.1:n.2340C>G
NM_005993.5:c.2314C>G MANE Select	NP_005984.3:p.Arg772Gly