Canonical Allele Identifier: CA401633287

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882832T>C (hg19) ; chr17:g.82924956T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924956T>C , CM000679.2:g.82924956T>C	GRCh38
NC_000017.10:g.80882832T>C , CM000679.1:g.80882832T>C	GRCh37
NC_000017.9:g.78476121T>C	NCBI36
NG_011721.1:g.177893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1486T>C
ENST00000576677.6:n.1407T>C
ENST00000681983.1:n.2414T>C
ENST00000682099.1:n.1175T>C
ENST00000682213.1:c.*249T>C	ENSP00000508166.1:n.*249T>C
ENST00000682315.1:c.592T>C	ENSP00000507232.1:p.Tyr198His
ENST00000682479.1:c.2368T>C	ENSP00000508214.1:p.Tyr790His
ENST00000682610.1:n.1518T>C
ENST00000682654.1:c.*249T>C	ENSP00000507412.1:n.*249T>C
ENST00000682722.1:c.2227T>C	ENSP00000508364.1:p.Tyr743His
ENST00000683041.1:c.*249T>C	ENSP00000506994.1:n.*249T>C
ENST00000683184.1:c.*1931T>C	ENSP00000507757.1:n.*1931T>C
ENST00000683282.1:c.2194T>C	ENSP00000506913.1:p.Tyr732His
ENST00000683444.1:c.*1855T>C	ENSP00000507553.1:n.*1855T>C
ENST00000683584.1:n.1101T>C
ENST00000683821.1:c.592T>C	ENSP00000507651.1:p.Tyr198His
ENST00000683839.1:n.1732T>C
ENST00000684000.1:c.2362T>C	ENSP00000506795.1:p.Tyr788His
ENST00000684188.1:c.2089T>C	ENSP00000507153.1:p.Tyr697His
ENST00000684349.1:c.2464T>C	ENSP00000508067.1:p.Tyr822His
ENST00000684361.1:c.2278T>C	ENSP00000507364.1:p.Tyr760His
ENST00000684408.1:c.1921T>C	ENSP00000506837.1:p.Tyr641His
ENST00000684429.1:c.2206T>C	ENSP00000507224.1:p.Tyr736His
ENST00000684464.1:c.2371T>C	ENSP00000508333.1:p.Tyr791His
ENST00000684544.1:c.2197T>C	ENSP00000507337.1:p.Tyr733His
ENST00000684559.1:n.1033T>C
ENST00000684760.1:c.2545T>C	ENSP00000507696.1:p.Tyr849His
ENST00000684776.1:c.*761T>C	ENSP00000507861.1:n.*761T>C
ENST00000355528.9:c.2278T>C MANE Select	ENSP00000347719.4:p.Tyr760His
ENST00000355528.8:c.2278T>C	ENSP00000347719.4:p.Tyr760His
ENST00000539345.6:c.2278T>C	ENSP00000440671.2:p.Tyr760His
ENST00000571618.5:n.456T>C
ENST00000571796.5:n.936T>C
ENST00000574422.1:c.592T>C	ENSP00000458599.1:p.Tyr198His
ENST00000574818.5:n.336T>C
ENST00000574886.1:n.662T>C
ENST00000574975.5:c.655T>C	ENSP00000461680.1:p.Tyr219His
ENST00000576760.5:c.592T>C	ENSP00000460949.1:p.Tyr198His
NM_005993.4:c.2278T>C	NP_005984.3:p.Tyr760His
XM_005256396.3:c.2227T>C	XP_005256453.1:p.Tyr743His
XM_005256399.3:c.994T>C	XP_005256456.1:p.Tyr332His
XM_005256400.3:c.592T>C	XP_005256457.1:p.Tyr198His
XM_005256401.3:c.592T>C	XP_005256458.1:p.Tyr198His
XM_005256402.3:c.592T>C	XP_005256459.1:p.Tyr198His
XM_005256403.3:c.592T>C	XP_005256460.1:p.Tyr198His
XM_005256404.3:c.592T>C	XP_005256461.1:p.Tyr198His
XM_006722290.2:c.2197T>C	XP_006722353.1:p.Tyr733His
XM_006722291.2:c.982T>C	XP_006722354.1:p.Tyr328His
XM_006722292.2:c.592T>C	XP_006722355.1:p.Tyr198His
XM_011523589.1:c.1933T>C	XP_011521891.1:p.Tyr645His
XM_011523590.1:c.1921T>C	XP_011521892.1:p.Tyr641His
XM_011523591.1:c.1918T>C	XP_011521893.1:p.Tyr640His
XM_011523592.1:c.1831T>C	XP_011521894.1:p.Tyr611His
XM_011523593.1:c.1525T>C	XP_011521895.1:p.Tyr509His
XM_011523594.1:c.1006T>C	XP_011521896.1:p.Tyr336His
XM_011523595.1:c.973T>C	XP_011521897.1:p.Tyr325His
XM_011523596.1:c.*9T>C	XP_011521898.1:n.*9T>C
XM_011523597.1:c.739T>C	XP_011521899.1:p.Tyr247His
XM_011523598.1:c.736T>C	XP_011521900.1:p.Tyr246His
XM_011523599.1:c.730T>C	XP_011521901.1:p.Tyr244His
XM_011523600.1:c.592T>C	XP_011521902.1:p.Tyr198His
XR_430033.2:n.2386T>C
XM_005256396.4:c.2227T>C	XP_005256453.1:p.Tyr743His
XM_005256399.5:c.994T>C	XP_005256456.1:p.Tyr332His
XM_005256404.4:c.592T>C	XP_005256461.1:p.Tyr198His
XM_006722291.4:c.982T>C	XP_006722354.1:p.Tyr328His
XM_006722292.3:c.592T>C	XP_006722355.1:p.Tyr198His
XM_011523589.2:c.1933T>C	XP_011521891.1:p.Tyr645His
XM_011523591.2:c.1918T>C	XP_011521893.1:p.Tyr640His
XM_011523593.2:c.1525T>C	XP_011521895.1:p.Tyr509His
XM_011523594.2:c.1006T>C	XP_011521896.1:p.Tyr336His
XM_011523595.3:c.973T>C	XP_011521897.1:p.Tyr325His
XM_011523597.2:c.739T>C	XP_011521899.1:p.Tyr247His
XM_011523599.2:c.730T>C	XP_011521901.1:p.Tyr244His
XM_011523600.3:c.592T>C	XP_011521902.1:p.Tyr198His
XM_017024987.1:c.2089T>C	XP_016880476.1:p.Tyr697His
XM_017024989.1:c.640T>C	XP_016880478.1:p.Tyr214His
XM_017024990.2:c.592T>C	XP_016880479.1:p.Tyr198His
XM_024450899.1:c.592T>C	XP_024306667.1:p.Tyr198His
XM_024450900.1:c.592T>C	XP_024306668.1:p.Tyr198His
XM_024450901.1:c.592T>C	XP_024306669.1:p.Tyr198His
XM_024450902.1:c.592T>C	XP_024306670.1:p.Tyr198His
XR_001752597.1:n.2386T>C
XR_001752598.1:n.2386T>C
XR_001752599.1:n.2386T>C
XR_001752600.1:n.2304T>C
NM_005993.5:c.2278T>C MANE Select	NP_005984.3:p.Tyr760His