Canonical Allele Identifier: CA8862600

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82884148A>C , CM000679.2:g.82884148A>C	GRCh38
NC_000017.10:g.80842024A>C , CM000679.1:g.80842024A>C	GRCh37
NC_000017.9:g.78435313A>C	NCBI36
NG_011721.1:g.137085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681983.1:n.1615A>C
ENST00000682099.1:n.376A>C
ENST00000682213.1:c.1479A>C	ENSP00000508166.1:p.Ala493=
ENST00000682479.1:c.1569A>C	ENSP00000508214.1:p.Ala523=
ENST00000682610.1:n.719A>C
ENST00000682654.1:c.-208A>C	ENSP00000507412.1:n.-208A>C
ENST00000682722.1:c.1428A>C	ENSP00000508364.1:p.Ala476=
ENST00000682921.1:n.1401A>C
ENST00000683009.1:n.1599A>C
ENST00000683041.1:c.1479A>C	ENSP00000506994.1:p.Ala493=
ENST00000683184.1:c.*1132A>C	ENSP00000507757.1:n.*1132A>C
ENST00000683282.1:c.1479A>C	ENSP00000506913.1:p.Ala493=
ENST00000683444.1:c.*1056A>C	ENSP00000507553.1:n.*1056A>C
ENST00000683584.1:n.302A>C
ENST00000683821.1:c.-208A>C	ENSP00000507651.1:n.-208A>C
ENST00000684000.1:c.1563A>C	ENSP00000506795.1:p.Ala521=
ENST00000684188.1:c.1290A>C	ENSP00000507153.1:p.Ala430=
ENST00000684349.1:c.1479A>C	ENSP00000508067.1:p.Ala493=
ENST00000684361.1:c.1479A>C	ENSP00000507364.1:p.Ala493=
ENST00000684408.1:c.1479A>C	ENSP00000506837.1:p.Ala493=
ENST00000684429.1:c.1407A>C	ENSP00000507224.1:p.Ala469=
ENST00000684464.1:c.1479A>C	ENSP00000508333.1:p.Ala493=
ENST00000684544.1:c.1479A>C	ENSP00000507337.1:p.Ala493=
ENST00000684559.1:n.234A>C
ENST00000684760.1:c.1479A>C	ENSP00000507696.1:p.Ala493=
ENST00000684776.1:c.*43A>C	ENSP00000507861.1:n.*43A>C
ENST00000355528.9:c.1479A>C MANE Select	ENSP00000347719.4:p.Ala493=
ENST00000355528.8:c.1479A>C	ENSP00000347719.4:p.Ala493=
ENST00000539345.6:c.1479A>C	ENSP00000440671.2:p.Ala493=
ENST00000571712.5:c.-265A>C	ENSP00000459063.1:n.-265A>C
ENST00000574801.5:n.298A>C
ENST00000576160.6:c.-208A>C	ENSP00000458535.2:n.-208A>C
ENST00000576996.5:c.-208A>C	ENSP00000460450.1:n.-208A>C
NM_005993.4:c.1479A>C	NP_005984.3:p.Ala493=
XM_005256396.3:c.1428A>C	XP_005256453.1:p.Ala476=
XM_005256399.3:c.195A>C	XP_005256456.1:p.Ala65=
XM_005256400.3:c.-208A>C	XP_005256457.1:n.-208A>C
XM_005256401.3:c.-208A>C	XP_005256458.1:n.-208A>C
XM_005256402.3:c.-208A>C	XP_005256459.1:n.-208A>C
XM_005256403.3:c.-208A>C	XP_005256460.1:n.-208A>C
XM_005256404.3:c.-208A>C	XP_005256461.1:n.-208A>C
XM_006722290.2:c.1479A>C	XP_006722353.1:p.Ala493=
XM_006722291.2:c.183A>C	XP_006722354.1:p.Ala61=
XM_011523589.1:c.1134A>C	XP_011521891.1:p.Ala378=
XM_011523590.1:c.1479A>C	XP_011521892.1:p.Ala493=
XM_011523591.1:c.1119A>C	XP_011521893.1:p.Ala373=
XM_011523592.1:c.1032A>C	XP_011521894.1:p.Ala344=
XM_011523593.1:c.726A>C	XP_011521895.1:p.Ala242=
XM_011523594.1:c.207A>C	XP_011521896.1:p.Ala69=
XM_011523595.1:c.174A>C	XP_011521897.1:p.Ala58=
XM_011523596.1:c.1479A>C	XP_011521898.1:p.Ala493=
XR_430033.2:n.1587A>C
XM_005256396.4:c.1428A>C	XP_005256453.1:p.Ala476=
XM_005256399.5:c.195A>C	XP_005256456.1:p.Ala65=
XM_005256404.4:c.-208A>C	XP_005256461.1:n.-208A>C
XM_006722291.4:c.183A>C	XP_006722354.1:p.Ala61=
XM_011523589.2:c.1134A>C	XP_011521891.1:p.Ala378=
XM_011523591.2:c.1119A>C	XP_011521893.1:p.Ala373=
XM_011523593.2:c.726A>C	XP_011521895.1:p.Ala242=
XM_011523594.2:c.207A>C	XP_011521896.1:p.Ala69=
XM_011523595.3:c.174A>C	XP_011521897.1:p.Ala58=
XM_017024987.1:c.1290A>C	XP_016880476.1:p.Ala430=
XM_017024988.1:c.1479A>C	XP_016880477.1:p.Ala493=
XM_017024990.2:c.-208A>C	XP_016880479.1:n.-208A>C
XM_024450899.1:c.-208A>C	XP_024306667.1:n.-208A>C
XM_024450900.1:c.-208A>C	XP_024306668.1:n.-208A>C
XM_024450901.1:c.-208A>C	XP_024306669.1:n.-208A>C
XM_024450902.1:c.-208A>C	XP_024306670.1:n.-208A>C
XR_001752597.1:n.1587A>C
XR_001752598.1:n.1587A>C
XR_001752599.1:n.1587A>C
XR_001752600.1:n.1587A>C
NM_005993.5:c.1479A>C MANE Select	NP_005984.3:p.Ala493=