Canonical Allele Identifier: CA401633628

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925040-A-T
• MyVariant Identifiers: chr17:g.80882916A>T (hg19) ; chr17:g.82925040A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925040A>T , CM000679.2:g.82925040A>T	GRCh38
NC_000017.10:g.80882916A>T , CM000679.1:g.80882916A>T	GRCh37
NC_000017.9:g.78476205A>T	NCBI36
NG_011721.1:g.177977A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1570A>T
ENST00000576677.6:n.1491A>T
ENST00000681983.1:n.2498A>T
ENST00000682099.1:n.1259A>T
ENST00000682213.1:c.*333A>T	ENSP00000508166.1:n.*333A>T
ENST00000682315.1:c.676A>T	ENSP00000507232.1:p.Lys226Ter
ENST00000682479.1:c.2452A>T	ENSP00000508214.1:p.Lys818Ter
ENST00000682610.1:n.1602A>T
ENST00000682654.1:c.*333A>T	ENSP00000507412.1:n.*333A>T
ENST00000682722.1:c.2311A>T	ENSP00000508364.1:p.Lys771Ter
ENST00000683041.1:c.*333A>T	ENSP00000506994.1:n.*333A>T
ENST00000683184.1:c.*2015A>T	ENSP00000507757.1:n.*2015A>T
ENST00000683282.1:c.2278A>T	ENSP00000506913.1:p.Lys760Ter
ENST00000683444.1:c.*1939A>T	ENSP00000507553.1:n.*1939A>T
ENST00000683584.1:n.1185A>T
ENST00000683821.1:c.676A>T	ENSP00000507651.1:p.Lys226Ter
ENST00000683839.1:n.1816A>T
ENST00000684000.1:c.2446A>T	ENSP00000506795.1:p.Lys816Ter
ENST00000684188.1:c.2173A>T	ENSP00000507153.1:p.Lys725Ter
ENST00000684349.1:c.2548A>T	ENSP00000508067.1:p.Lys850Ter
ENST00000684361.1:c.2362A>T	ENSP00000507364.1:p.Lys788Ter
ENST00000684408.1:c.2005A>T	ENSP00000506837.1:p.Lys669Ter
ENST00000684429.1:c.2290A>T	ENSP00000507224.1:p.Lys764Ter
ENST00000684464.1:c.2455A>T	ENSP00000508333.1:p.Lys819Ter
ENST00000684544.1:c.2281A>T	ENSP00000507337.1:p.Lys761Ter
ENST00000684559.1:n.1117A>T
ENST00000684760.1:c.2629A>T	ENSP00000507696.1:p.Lys877Ter
ENST00000684776.1:c.*845A>T	ENSP00000507861.1:n.*845A>T
ENST00000355528.9:c.2362A>T MANE Select	ENSP00000347719.4:p.Lys788Ter
ENST00000355528.8:c.2362A>T	ENSP00000347719.4:p.Lys788Ter
ENST00000539345.6:c.2362A>T	ENSP00000440671.2:p.Lys788Ter
ENST00000571618.5:n.540A>T
ENST00000571796.5:n.1020A>T
ENST00000574422.1:c.676A>T	ENSP00000458599.1:p.Lys226Ter
ENST00000574818.5:n.420A>T
ENST00000574886.1:n.746A>T
ENST00000574975.5:c.739A>T	ENSP00000461680.1:p.Lys247Ter
ENST00000576760.5:c.676A>T	ENSP00000460949.1:p.Lys226Ter
NM_005993.4:c.2362A>T	NP_005984.3:p.Lys788Ter
XM_005256396.3:c.2311A>T	XP_005256453.1:p.Lys771Ter
XM_005256399.3:c.1078A>T	XP_005256456.1:p.Lys360Ter
XM_005256400.3:c.676A>T	XP_005256457.1:p.Lys226Ter
XM_005256401.3:c.676A>T	XP_005256458.1:p.Lys226Ter
XM_005256402.3:c.676A>T	XP_005256459.1:p.Lys226Ter
XM_005256403.3:c.676A>T	XP_005256460.1:p.Lys226Ter
XM_005256404.3:c.676A>T	XP_005256461.1:p.Lys226Ter
XM_006722290.2:c.2281A>T	XP_006722353.1:p.Lys761Ter
XM_006722291.2:c.1066A>T	XP_006722354.1:p.Lys356Ter
XM_006722292.2:c.676A>T	XP_006722355.1:p.Lys226Ter
XM_011523589.1:c.2017A>T	XP_011521891.1:p.Lys673Ter
XM_011523590.1:c.2005A>T	XP_011521892.1:p.Lys669Ter
XM_011523591.1:c.2002A>T	XP_011521893.1:p.Lys668Ter
XM_011523592.1:c.1915A>T	XP_011521894.1:p.Lys639Ter
XM_011523593.1:c.1609A>T	XP_011521895.1:p.Lys537Ter
XM_011523594.1:c.1090A>T	XP_011521896.1:p.Lys364Ter
XM_011523595.1:c.1057A>T	XP_011521897.1:p.Lys353Ter
XM_011523597.1:c.823A>T	XP_011521899.1:p.Lys275Ter
XM_011523598.1:c.820A>T	XP_011521900.1:p.Lys274Ter
XM_011523599.1:c.814A>T	XP_011521901.1:p.Lys272Ter
XM_011523600.1:c.676A>T	XP_011521902.1:p.Lys226Ter
XR_430033.2:n.2470A>T
XM_005256396.4:c.2311A>T	XP_005256453.1:p.Lys771Ter
XM_005256399.5:c.1078A>T	XP_005256456.1:p.Lys360Ter
XM_005256404.4:c.676A>T	XP_005256461.1:p.Lys226Ter
XM_006722291.4:c.1066A>T	XP_006722354.1:p.Lys356Ter
XM_006722292.3:c.676A>T	XP_006722355.1:p.Lys226Ter
XM_011523589.2:c.2017A>T	XP_011521891.1:p.Lys673Ter
XM_011523591.2:c.2002A>T	XP_011521893.1:p.Lys668Ter
XM_011523593.2:c.1609A>T	XP_011521895.1:p.Lys537Ter
XM_011523594.2:c.1090A>T	XP_011521896.1:p.Lys364Ter
XM_011523595.3:c.1057A>T	XP_011521897.1:p.Lys353Ter
XM_011523597.2:c.823A>T	XP_011521899.1:p.Lys275Ter
XM_011523599.2:c.814A>T	XP_011521901.1:p.Lys272Ter
XM_011523600.3:c.676A>T	XP_011521902.1:p.Lys226Ter
XM_017024987.1:c.2173A>T	XP_016880476.1:p.Lys725Ter
XM_017024989.1:c.724A>T	XP_016880478.1:p.Lys242Ter
XM_017024990.2:c.676A>T	XP_016880479.1:p.Lys226Ter
XM_024450899.1:c.676A>T	XP_024306667.1:p.Lys226Ter
XM_024450900.1:c.676A>T	XP_024306668.1:p.Lys226Ter
XM_024450901.1:c.676A>T	XP_024306669.1:p.Lys226Ter
XM_024450902.1:c.676A>T	XP_024306670.1:p.Lys226Ter
XR_001752597.1:n.2470A>T
XR_001752598.1:n.2470A>T
XR_001752599.1:n.2470A>T
XR_001752600.1:n.2388A>T
NM_005993.5:c.2362A>T MANE Select	NP_005984.3:p.Lys788Ter