Canonical Allele Identifier: CA401633632

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882917A>C (hg19) ; chr17:g.82925041A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925041A>C , CM000679.2:g.82925041A>C	GRCh38
NC_000017.10:g.80882917A>C , CM000679.1:g.80882917A>C	GRCh37
NC_000017.9:g.78476206A>C	NCBI36
NG_011721.1:g.177978A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1571A>C
ENST00000576677.6:n.1492A>C
ENST00000681983.1:n.2499A>C
ENST00000682099.1:n.1260A>C
ENST00000682213.1:c.*334A>C	ENSP00000508166.1:n.*334A>C
ENST00000682315.1:c.677A>C	ENSP00000507232.1:p.Lys226Thr
ENST00000682479.1:c.2453A>C	ENSP00000508214.1:p.Lys818Thr
ENST00000682610.1:n.1603A>C
ENST00000682654.1:c.*334A>C	ENSP00000507412.1:n.*334A>C
ENST00000682722.1:c.2312A>C	ENSP00000508364.1:p.Lys771Thr
ENST00000683041.1:c.*334A>C	ENSP00000506994.1:n.*334A>C
ENST00000683184.1:c.*2016A>C	ENSP00000507757.1:n.*2016A>C
ENST00000683282.1:c.2279A>C	ENSP00000506913.1:p.Lys760Thr
ENST00000683444.1:c.*1940A>C	ENSP00000507553.1:n.*1940A>C
ENST00000683584.1:n.1186A>C
ENST00000683821.1:c.677A>C	ENSP00000507651.1:p.Lys226Thr
ENST00000683839.1:n.1817A>C
ENST00000684000.1:c.2447A>C	ENSP00000506795.1:p.Lys816Thr
ENST00000684188.1:c.2174A>C	ENSP00000507153.1:p.Lys725Thr
ENST00000684349.1:c.2549A>C	ENSP00000508067.1:p.Lys850Thr
ENST00000684361.1:c.2363A>C	ENSP00000507364.1:p.Lys788Thr
ENST00000684408.1:c.2006A>C	ENSP00000506837.1:p.Lys669Thr
ENST00000684429.1:c.2291A>C	ENSP00000507224.1:p.Lys764Thr
ENST00000684464.1:c.2456A>C	ENSP00000508333.1:p.Lys819Thr
ENST00000684544.1:c.2282A>C	ENSP00000507337.1:p.Lys761Thr
ENST00000684559.1:n.1118A>C
ENST00000684760.1:c.2630A>C	ENSP00000507696.1:p.Lys877Thr
ENST00000684776.1:c.*846A>C	ENSP00000507861.1:n.*846A>C
ENST00000355528.9:c.2363A>C MANE Select	ENSP00000347719.4:p.Lys788Thr
ENST00000355528.8:c.2363A>C	ENSP00000347719.4:p.Lys788Thr
ENST00000539345.6:c.2363A>C	ENSP00000440671.2:p.Lys788Thr
ENST00000571618.5:n.541A>C
ENST00000571796.5:n.1021A>C
ENST00000574422.1:c.677A>C	ENSP00000458599.1:p.Lys226Thr
ENST00000574818.5:n.421A>C
ENST00000574886.1:n.747A>C
ENST00000574975.5:c.740A>C	ENSP00000461680.1:p.Lys247Thr
ENST00000576760.5:c.677A>C	ENSP00000460949.1:p.Lys226Thr
NM_005993.4:c.2363A>C	NP_005984.3:p.Lys788Thr
XM_005256396.3:c.2312A>C	XP_005256453.1:p.Lys771Thr
XM_005256399.3:c.1079A>C	XP_005256456.1:p.Lys360Thr
XM_005256400.3:c.677A>C	XP_005256457.1:p.Lys226Thr
XM_005256401.3:c.677A>C	XP_005256458.1:p.Lys226Thr
XM_005256402.3:c.677A>C	XP_005256459.1:p.Lys226Thr
XM_005256403.3:c.677A>C	XP_005256460.1:p.Lys226Thr
XM_005256404.3:c.677A>C	XP_005256461.1:p.Lys226Thr
XM_006722290.2:c.2282A>C	XP_006722353.1:p.Lys761Thr
XM_006722291.2:c.1067A>C	XP_006722354.1:p.Lys356Thr
XM_006722292.2:c.677A>C	XP_006722355.1:p.Lys226Thr
XM_011523589.1:c.2018A>C	XP_011521891.1:p.Lys673Thr
XM_011523590.1:c.2006A>C	XP_011521892.1:p.Lys669Thr
XM_011523591.1:c.2003A>C	XP_011521893.1:p.Lys668Thr
XM_011523592.1:c.1916A>C	XP_011521894.1:p.Lys639Thr
XM_011523593.1:c.1610A>C	XP_011521895.1:p.Lys537Thr
XM_011523594.1:c.1091A>C	XP_011521896.1:p.Lys364Thr
XM_011523595.1:c.1058A>C	XP_011521897.1:p.Lys353Thr
XM_011523597.1:c.824A>C	XP_011521899.1:p.Lys275Thr
XM_011523598.1:c.821A>C	XP_011521900.1:p.Lys274Thr
XM_011523599.1:c.815A>C	XP_011521901.1:p.Lys272Thr
XM_011523600.1:c.677A>C	XP_011521902.1:p.Lys226Thr
XR_430033.2:n.2471A>C
XM_005256396.4:c.2312A>C	XP_005256453.1:p.Lys771Thr
XM_005256399.5:c.1079A>C	XP_005256456.1:p.Lys360Thr
XM_005256404.4:c.677A>C	XP_005256461.1:p.Lys226Thr
XM_006722291.4:c.1067A>C	XP_006722354.1:p.Lys356Thr
XM_006722292.3:c.677A>C	XP_006722355.1:p.Lys226Thr
XM_011523589.2:c.2018A>C	XP_011521891.1:p.Lys673Thr
XM_011523591.2:c.2003A>C	XP_011521893.1:p.Lys668Thr
XM_011523593.2:c.1610A>C	XP_011521895.1:p.Lys537Thr
XM_011523594.2:c.1091A>C	XP_011521896.1:p.Lys364Thr
XM_011523595.3:c.1058A>C	XP_011521897.1:p.Lys353Thr
XM_011523597.2:c.824A>C	XP_011521899.1:p.Lys275Thr
XM_011523599.2:c.815A>C	XP_011521901.1:p.Lys272Thr
XM_011523600.3:c.677A>C	XP_011521902.1:p.Lys226Thr
XM_017024987.1:c.2174A>C	XP_016880476.1:p.Lys725Thr
XM_017024989.1:c.725A>C	XP_016880478.1:p.Lys242Thr
XM_017024990.2:c.677A>C	XP_016880479.1:p.Lys226Thr
XM_024450899.1:c.677A>C	XP_024306667.1:p.Lys226Thr
XM_024450900.1:c.677A>C	XP_024306668.1:p.Lys226Thr
XM_024450901.1:c.677A>C	XP_024306669.1:p.Lys226Thr
XM_024450902.1:c.677A>C	XP_024306670.1:p.Lys226Thr
XR_001752597.1:n.2471A>C
XR_001752598.1:n.2471A>C
XR_001752599.1:n.2471A>C
XR_001752600.1:n.2389A>C
NM_005993.5:c.2363A>C MANE Select	NP_005984.3:p.Lys788Thr