Canonical Allele Identifier: CA502597462

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882912T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925036T>G , CM000679.2:g.82925036T>G	GRCh38
NC_000017.10:g.80882912T>G , CM000679.1:g.80882912T>G	GRCh37
NC_000017.9:g.78476201T>G	NCBI36
NG_011721.1:g.177973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1566T>G
ENST00000576677.6:n.1487T>G
ENST00000681983.1:n.2494T>G
ENST00000682099.1:n.1255T>G
ENST00000682213.1:c.*329T>G	ENSP00000508166.1:n.*329T>G
ENST00000682315.1:c.672T>G	ENSP00000507232.1:p.Leu224=
ENST00000682479.1:c.2448T>G	ENSP00000508214.1:p.Leu816=
ENST00000682610.1:n.1598T>G
ENST00000682654.1:c.*329T>G	ENSP00000507412.1:n.*329T>G
ENST00000682722.1:c.2307T>G	ENSP00000508364.1:p.Leu769=
ENST00000683041.1:c.*329T>G	ENSP00000506994.1:n.*329T>G
ENST00000683184.1:c.*2011T>G	ENSP00000507757.1:n.*2011T>G
ENST00000683282.1:c.2274T>G	ENSP00000506913.1:p.Leu758=
ENST00000683444.1:c.*1935T>G	ENSP00000507553.1:n.*1935T>G
ENST00000683584.1:n.1181T>G
ENST00000683821.1:c.672T>G	ENSP00000507651.1:p.Leu224=
ENST00000683839.1:n.1812T>G
ENST00000684000.1:c.2442T>G	ENSP00000506795.1:p.Leu814=
ENST00000684188.1:c.2169T>G	ENSP00000507153.1:p.Leu723=
ENST00000684349.1:c.2544T>G	ENSP00000508067.1:p.Leu848=
ENST00000684361.1:c.2358T>G	ENSP00000507364.1:p.Leu786=
ENST00000684408.1:c.2001T>G	ENSP00000506837.1:p.Leu667=
ENST00000684429.1:c.2286T>G	ENSP00000507224.1:p.Leu762=
ENST00000684464.1:c.2451T>G	ENSP00000508333.1:p.Leu817=
ENST00000684544.1:c.2277T>G	ENSP00000507337.1:p.Leu759=
ENST00000684559.1:n.1113T>G
ENST00000684760.1:c.2625T>G	ENSP00000507696.1:p.Leu875=
ENST00000684776.1:c.*841T>G	ENSP00000507861.1:n.*841T>G
ENST00000355528.9:c.2358T>G MANE Select	ENSP00000347719.4:p.Leu786=
ENST00000355528.8:c.2358T>G	ENSP00000347719.4:p.Leu786=
ENST00000539345.6:c.2358T>G	ENSP00000440671.2:p.Leu786=
ENST00000571618.5:n.536T>G
ENST00000571796.5:n.1016T>G
ENST00000574422.1:c.672T>G	ENSP00000458599.1:p.Leu224=
ENST00000574818.5:n.416T>G
ENST00000574886.1:n.742T>G
ENST00000574975.5:c.735T>G	ENSP00000461680.1:p.Leu245=
ENST00000576760.5:c.672T>G	ENSP00000460949.1:p.Leu224=
NM_005993.4:c.2358T>G	NP_005984.3:p.Leu786=
XM_005256396.3:c.2307T>G	XP_005256453.1:p.Leu769=
XM_005256399.3:c.1074T>G	XP_005256456.1:p.Leu358=
XM_005256400.3:c.672T>G	XP_005256457.1:p.Leu224=
XM_005256401.3:c.672T>G	XP_005256458.1:p.Leu224=
XM_005256402.3:c.672T>G	XP_005256459.1:p.Leu224=
XM_005256403.3:c.672T>G	XP_005256460.1:p.Leu224=
XM_005256404.3:c.672T>G	XP_005256461.1:p.Leu224=
XM_006722290.2:c.2277T>G	XP_006722353.1:p.Leu759=
XM_006722291.2:c.1062T>G	XP_006722354.1:p.Leu354=
XM_006722292.2:c.672T>G	XP_006722355.1:p.Leu224=
XM_011523589.1:c.2013T>G	XP_011521891.1:p.Leu671=
XM_011523590.1:c.2001T>G	XP_011521892.1:p.Leu667=
XM_011523591.1:c.1998T>G	XP_011521893.1:p.Leu666=
XM_011523592.1:c.1911T>G	XP_011521894.1:p.Leu637=
XM_011523593.1:c.1605T>G	XP_011521895.1:p.Leu535=
XM_011523594.1:c.1086T>G	XP_011521896.1:p.Leu362=
XM_011523595.1:c.1053T>G	XP_011521897.1:p.Leu351=
XM_011523597.1:c.819T>G	XP_011521899.1:p.Leu273=
XM_011523598.1:c.816T>G	XP_011521900.1:p.Leu272=
XM_011523599.1:c.810T>G	XP_011521901.1:p.Leu270=
XM_011523600.1:c.672T>G	XP_011521902.1:p.Leu224=
XR_430033.2:n.2466T>G
XM_005256396.4:c.2307T>G	XP_005256453.1:p.Leu769=
XM_005256399.5:c.1074T>G	XP_005256456.1:p.Leu358=
XM_005256404.4:c.672T>G	XP_005256461.1:p.Leu224=
XM_006722291.4:c.1062T>G	XP_006722354.1:p.Leu354=
XM_006722292.3:c.672T>G	XP_006722355.1:p.Leu224=
XM_011523589.2:c.2013T>G	XP_011521891.1:p.Leu671=
XM_011523591.2:c.1998T>G	XP_011521893.1:p.Leu666=
XM_011523593.2:c.1605T>G	XP_011521895.1:p.Leu535=
XM_011523594.2:c.1086T>G	XP_011521896.1:p.Leu362=
XM_011523595.3:c.1053T>G	XP_011521897.1:p.Leu351=
XM_011523597.2:c.819T>G	XP_011521899.1:p.Leu273=
XM_011523599.2:c.810T>G	XP_011521901.1:p.Leu270=
XM_011523600.3:c.672T>G	XP_011521902.1:p.Leu224=
XM_017024987.1:c.2169T>G	XP_016880476.1:p.Leu723=
XM_017024989.1:c.720T>G	XP_016880478.1:p.Leu240=
XM_017024990.2:c.672T>G	XP_016880479.1:p.Leu224=
XM_024450899.1:c.672T>G	XP_024306667.1:p.Leu224=
XM_024450900.1:c.672T>G	XP_024306668.1:p.Leu224=
XM_024450901.1:c.672T>G	XP_024306669.1:p.Leu224=
XM_024450902.1:c.672T>G	XP_024306670.1:p.Leu224=
XR_001752597.1:n.2466T>G
XR_001752598.1:n.2466T>G
XR_001752599.1:n.2466T>G
XR_001752600.1:n.2384T>G
NM_005993.5:c.2358T>G MANE Select	NP_005984.3:p.Leu786=