Canonical Allele Identifier: CA401633363

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882856G>C (hg19) ; chr17:g.82924980G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924980G>C , CM000679.2:g.82924980G>C	GRCh38
NC_000017.10:g.80882856G>C , CM000679.1:g.80882856G>C	GRCh37
NC_000017.9:g.78476145G>C	NCBI36
NG_011721.1:g.177917G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1510G>C
ENST00000576677.6:n.1431G>C
ENST00000681983.1:n.2438G>C
ENST00000682099.1:n.1199G>C
ENST00000682213.1:c.*273G>C	ENSP00000508166.1:n.*273G>C
ENST00000682315.1:c.616G>C	ENSP00000507232.1:p.Glu206Gln
ENST00000682479.1:c.2392G>C	ENSP00000508214.1:p.Glu798Gln
ENST00000682610.1:n.1542G>C
ENST00000682654.1:c.*273G>C	ENSP00000507412.1:n.*273G>C
ENST00000682722.1:c.2251G>C	ENSP00000508364.1:p.Glu751Gln
ENST00000683041.1:c.*273G>C	ENSP00000506994.1:n.*273G>C
ENST00000683184.1:c.*1955G>C	ENSP00000507757.1:n.*1955G>C
ENST00000683282.1:c.2218G>C	ENSP00000506913.1:p.Glu740Gln
ENST00000683444.1:c.*1879G>C	ENSP00000507553.1:n.*1879G>C
ENST00000683584.1:n.1125G>C
ENST00000683821.1:c.616G>C	ENSP00000507651.1:p.Glu206Gln
ENST00000683839.1:n.1756G>C
ENST00000684000.1:c.2386G>C	ENSP00000506795.1:p.Glu796Gln
ENST00000684188.1:c.2113G>C	ENSP00000507153.1:p.Glu705Gln
ENST00000684349.1:c.2488G>C	ENSP00000508067.1:p.Glu830Gln
ENST00000684361.1:c.2302G>C	ENSP00000507364.1:p.Glu768Gln
ENST00000684408.1:c.1945G>C	ENSP00000506837.1:p.Glu649Gln
ENST00000684429.1:c.2230G>C	ENSP00000507224.1:p.Glu744Gln
ENST00000684464.1:c.2395G>C	ENSP00000508333.1:p.Glu799Gln
ENST00000684544.1:c.2221G>C	ENSP00000507337.1:p.Glu741Gln
ENST00000684559.1:n.1057G>C
ENST00000684760.1:c.2569G>C	ENSP00000507696.1:p.Glu857Gln
ENST00000684776.1:c.*785G>C	ENSP00000507861.1:n.*785G>C
ENST00000355528.9:c.2302G>C MANE Select	ENSP00000347719.4:p.Glu768Gln
ENST00000355528.8:c.2302G>C	ENSP00000347719.4:p.Glu768Gln
ENST00000539345.6:c.2302G>C	ENSP00000440671.2:p.Glu768Gln
ENST00000571618.5:n.480G>C
ENST00000571796.5:n.960G>C
ENST00000574422.1:c.616G>C	ENSP00000458599.1:p.Glu206Gln
ENST00000574818.5:n.360G>C
ENST00000574886.1:n.686G>C
ENST00000574975.5:c.679G>C	ENSP00000461680.1:p.Glu227Gln
ENST00000576760.5:c.616G>C	ENSP00000460949.1:p.Glu206Gln
NM_005993.4:c.2302G>C	NP_005984.3:p.Glu768Gln
XM_005256396.3:c.2251G>C	XP_005256453.1:p.Glu751Gln
XM_005256399.3:c.1018G>C	XP_005256456.1:p.Glu340Gln
XM_005256400.3:c.616G>C	XP_005256457.1:p.Glu206Gln
XM_005256401.3:c.616G>C	XP_005256458.1:p.Glu206Gln
XM_005256402.3:c.616G>C	XP_005256459.1:p.Glu206Gln
XM_005256403.3:c.616G>C	XP_005256460.1:p.Glu206Gln
XM_005256404.3:c.616G>C	XP_005256461.1:p.Glu206Gln
XM_006722290.2:c.2221G>C	XP_006722353.1:p.Glu741Gln
XM_006722291.2:c.1006G>C	XP_006722354.1:p.Glu336Gln
XM_006722292.2:c.616G>C	XP_006722355.1:p.Glu206Gln
XM_011523589.1:c.1957G>C	XP_011521891.1:p.Glu653Gln
XM_011523590.1:c.1945G>C	XP_011521892.1:p.Glu649Gln
XM_011523591.1:c.1942G>C	XP_011521893.1:p.Glu648Gln
XM_011523592.1:c.1855G>C	XP_011521894.1:p.Glu619Gln
XM_011523593.1:c.1549G>C	XP_011521895.1:p.Glu517Gln
XM_011523594.1:c.1030G>C	XP_011521896.1:p.Glu344Gln
XM_011523595.1:c.997G>C	XP_011521897.1:p.Glu333Gln
XM_011523596.1:c.*33G>C	XP_011521898.1:n.*33G>C
XM_011523597.1:c.763G>C	XP_011521899.1:p.Glu255Gln
XM_011523598.1:c.760G>C	XP_011521900.1:p.Glu254Gln
XM_011523599.1:c.754G>C	XP_011521901.1:p.Glu252Gln
XM_011523600.1:c.616G>C	XP_011521902.1:p.Glu206Gln
XR_430033.2:n.2410G>C
XM_005256396.4:c.2251G>C	XP_005256453.1:p.Glu751Gln
XM_005256399.5:c.1018G>C	XP_005256456.1:p.Glu340Gln
XM_005256404.4:c.616G>C	XP_005256461.1:p.Glu206Gln
XM_006722291.4:c.1006G>C	XP_006722354.1:p.Glu336Gln
XM_006722292.3:c.616G>C	XP_006722355.1:p.Glu206Gln
XM_011523589.2:c.1957G>C	XP_011521891.1:p.Glu653Gln
XM_011523591.2:c.1942G>C	XP_011521893.1:p.Glu648Gln
XM_011523593.2:c.1549G>C	XP_011521895.1:p.Glu517Gln
XM_011523594.2:c.1030G>C	XP_011521896.1:p.Glu344Gln
XM_011523595.3:c.997G>C	XP_011521897.1:p.Glu333Gln
XM_011523597.2:c.763G>C	XP_011521899.1:p.Glu255Gln
XM_011523599.2:c.754G>C	XP_011521901.1:p.Glu252Gln
XM_011523600.3:c.616G>C	XP_011521902.1:p.Glu206Gln
XM_017024987.1:c.2113G>C	XP_016880476.1:p.Glu705Gln
XM_017024989.1:c.664G>C	XP_016880478.1:p.Glu222Gln
XM_017024990.2:c.616G>C	XP_016880479.1:p.Glu206Gln
XM_024450899.1:c.616G>C	XP_024306667.1:p.Glu206Gln
XM_024450900.1:c.616G>C	XP_024306668.1:p.Glu206Gln
XM_024450901.1:c.616G>C	XP_024306669.1:p.Glu206Gln
XM_024450902.1:c.616G>C	XP_024306670.1:p.Glu206Gln
XR_001752597.1:n.2410G>C
XR_001752598.1:n.2410G>C
XR_001752599.1:n.2410G>C
XR_001752600.1:n.2328G>C
NM_005993.5:c.2302G>C MANE Select	NP_005984.3:p.Glu768Gln