Canonical Allele Identifier: CA401633373

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882858G>C (hg19) ; chr17:g.82924982G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924982G>C , CM000679.2:g.82924982G>C	GRCh38
NC_000017.10:g.80882858G>C , CM000679.1:g.80882858G>C	GRCh37
NC_000017.9:g.78476147G>C	NCBI36
NG_011721.1:g.177919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1512G>C
ENST00000576677.6:n.1433G>C
ENST00000681983.1:n.2440G>C
ENST00000682099.1:n.1201G>C
ENST00000682213.1:c.*275G>C	ENSP00000508166.1:n.*275G>C
ENST00000682315.1:c.618G>C	ENSP00000507232.1:p.Glu206Asp
ENST00000682479.1:c.2394G>C	ENSP00000508214.1:p.Glu798Asp
ENST00000682610.1:n.1544G>C
ENST00000682654.1:c.*275G>C	ENSP00000507412.1:n.*275G>C
ENST00000682722.1:c.2253G>C	ENSP00000508364.1:p.Glu751Asp
ENST00000683041.1:c.*275G>C	ENSP00000506994.1:n.*275G>C
ENST00000683184.1:c.*1957G>C	ENSP00000507757.1:n.*1957G>C
ENST00000683282.1:c.2220G>C	ENSP00000506913.1:p.Glu740Asp
ENST00000683444.1:c.*1881G>C	ENSP00000507553.1:n.*1881G>C
ENST00000683584.1:n.1127G>C
ENST00000683821.1:c.618G>C	ENSP00000507651.1:p.Glu206Asp
ENST00000683839.1:n.1758G>C
ENST00000684000.1:c.2388G>C	ENSP00000506795.1:p.Glu796Asp
ENST00000684188.1:c.2115G>C	ENSP00000507153.1:p.Glu705Asp
ENST00000684349.1:c.2490G>C	ENSP00000508067.1:p.Glu830Asp
ENST00000684361.1:c.2304G>C	ENSP00000507364.1:p.Glu768Asp
ENST00000684408.1:c.1947G>C	ENSP00000506837.1:p.Glu649Asp
ENST00000684429.1:c.2232G>C	ENSP00000507224.1:p.Glu744Asp
ENST00000684464.1:c.2397G>C	ENSP00000508333.1:p.Glu799Asp
ENST00000684544.1:c.2223G>C	ENSP00000507337.1:p.Glu741Asp
ENST00000684559.1:n.1059G>C
ENST00000684760.1:c.2571G>C	ENSP00000507696.1:p.Glu857Asp
ENST00000684776.1:c.*787G>C	ENSP00000507861.1:n.*787G>C
ENST00000355528.9:c.2304G>C MANE Select	ENSP00000347719.4:p.Glu768Asp
ENST00000355528.8:c.2304G>C	ENSP00000347719.4:p.Glu768Asp
ENST00000539345.6:c.2304G>C	ENSP00000440671.2:p.Glu768Asp
ENST00000571618.5:n.482G>C
ENST00000571796.5:n.962G>C
ENST00000574422.1:c.618G>C	ENSP00000458599.1:p.Glu206Asp
ENST00000574818.5:n.362G>C
ENST00000574886.1:n.688G>C
ENST00000574975.5:c.681G>C	ENSP00000461680.1:p.Glu227Asp
ENST00000576760.5:c.618G>C	ENSP00000460949.1:p.Glu206Asp
NM_005993.4:c.2304G>C	NP_005984.3:p.Glu768Asp
XM_005256396.3:c.2253G>C	XP_005256453.1:p.Glu751Asp
XM_005256399.3:c.1020G>C	XP_005256456.1:p.Glu340Asp
XM_005256400.3:c.618G>C	XP_005256457.1:p.Glu206Asp
XM_005256401.3:c.618G>C	XP_005256458.1:p.Glu206Asp
XM_005256402.3:c.618G>C	XP_005256459.1:p.Glu206Asp
XM_005256403.3:c.618G>C	XP_005256460.1:p.Glu206Asp
XM_005256404.3:c.618G>C	XP_005256461.1:p.Glu206Asp
XM_006722290.2:c.2223G>C	XP_006722353.1:p.Glu741Asp
XM_006722291.2:c.1008G>C	XP_006722354.1:p.Glu336Asp
XM_006722292.2:c.618G>C	XP_006722355.1:p.Glu206Asp
XM_011523589.1:c.1959G>C	XP_011521891.1:p.Glu653Asp
XM_011523590.1:c.1947G>C	XP_011521892.1:p.Glu649Asp
XM_011523591.1:c.1944G>C	XP_011521893.1:p.Glu648Asp
XM_011523592.1:c.1857G>C	XP_011521894.1:p.Glu619Asp
XM_011523593.1:c.1551G>C	XP_011521895.1:p.Glu517Asp
XM_011523594.1:c.1032G>C	XP_011521896.1:p.Glu344Asp
XM_011523595.1:c.999G>C	XP_011521897.1:p.Glu333Asp
XM_011523596.1:c.*35G>C	XP_011521898.1:n.*35G>C
XM_011523597.1:c.765G>C	XP_011521899.1:p.Glu255Asp
XM_011523598.1:c.762G>C	XP_011521900.1:p.Glu254Asp
XM_011523599.1:c.756G>C	XP_011521901.1:p.Glu252Asp
XM_011523600.1:c.618G>C	XP_011521902.1:p.Glu206Asp
XR_430033.2:n.2412G>C
XM_005256396.4:c.2253G>C	XP_005256453.1:p.Glu751Asp
XM_005256399.5:c.1020G>C	XP_005256456.1:p.Glu340Asp
XM_005256404.4:c.618G>C	XP_005256461.1:p.Glu206Asp
XM_006722291.4:c.1008G>C	XP_006722354.1:p.Glu336Asp
XM_006722292.3:c.618G>C	XP_006722355.1:p.Glu206Asp
XM_011523589.2:c.1959G>C	XP_011521891.1:p.Glu653Asp
XM_011523591.2:c.1944G>C	XP_011521893.1:p.Glu648Asp
XM_011523593.2:c.1551G>C	XP_011521895.1:p.Glu517Asp
XM_011523594.2:c.1032G>C	XP_011521896.1:p.Glu344Asp
XM_011523595.3:c.999G>C	XP_011521897.1:p.Glu333Asp
XM_011523597.2:c.765G>C	XP_011521899.1:p.Glu255Asp
XM_011523599.2:c.756G>C	XP_011521901.1:p.Glu252Asp
XM_011523600.3:c.618G>C	XP_011521902.1:p.Glu206Asp
XM_017024987.1:c.2115G>C	XP_016880476.1:p.Glu705Asp
XM_017024989.1:c.666G>C	XP_016880478.1:p.Glu222Asp
XM_017024990.2:c.618G>C	XP_016880479.1:p.Glu206Asp
XM_024450899.1:c.618G>C	XP_024306667.1:p.Glu206Asp
XM_024450900.1:c.618G>C	XP_024306668.1:p.Glu206Asp
XM_024450901.1:c.618G>C	XP_024306669.1:p.Glu206Asp
XM_024450902.1:c.618G>C	XP_024306670.1:p.Glu206Asp
XR_001752597.1:n.2412G>C
XR_001752598.1:n.2412G>C
XR_001752599.1:n.2412G>C
XR_001752600.1:n.2330G>C
NM_005993.5:c.2304G>C MANE Select	NP_005984.3:p.Glu768Asp