Canonical Allele Identifier: CA401633333

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924972-G-T
• MyVariant Identifiers: chr17:g.80882848G>T (hg19) ; chr17:g.82924972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924972G>T , CM000679.2:g.82924972G>T	GRCh38
NC_000017.10:g.80882848G>T , CM000679.1:g.80882848G>T	GRCh37
NC_000017.9:g.78476137G>T	NCBI36
NG_011721.1:g.177909G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1502G>T
ENST00000576677.6:n.1423G>T
ENST00000681983.1:n.2430G>T
ENST00000682099.1:n.1191G>T
ENST00000682213.1:c.*265G>T	ENSP00000508166.1:n.*265G>T
ENST00000682315.1:c.608G>T	ENSP00000507232.1:p.Arg203Leu
ENST00000682479.1:c.2384G>T	ENSP00000508214.1:p.Arg795Leu
ENST00000682610.1:n.1534G>T
ENST00000682654.1:c.*265G>T	ENSP00000507412.1:n.*265G>T
ENST00000682722.1:c.2243G>T	ENSP00000508364.1:p.Arg748Leu
ENST00000683041.1:c.*265G>T	ENSP00000506994.1:n.*265G>T
ENST00000683184.1:c.*1947G>T	ENSP00000507757.1:n.*1947G>T
ENST00000683282.1:c.2210G>T	ENSP00000506913.1:p.Arg737Leu
ENST00000683444.1:c.*1871G>T	ENSP00000507553.1:n.*1871G>T
ENST00000683584.1:n.1117G>T
ENST00000683821.1:c.608G>T	ENSP00000507651.1:p.Arg203Leu
ENST00000683839.1:n.1748G>T
ENST00000684000.1:c.2378G>T	ENSP00000506795.1:p.Arg793Leu
ENST00000684188.1:c.2105G>T	ENSP00000507153.1:p.Arg702Leu
ENST00000684349.1:c.2480G>T	ENSP00000508067.1:p.Arg827Leu
ENST00000684361.1:c.2294G>T	ENSP00000507364.1:p.Arg765Leu
ENST00000684408.1:c.1937G>T	ENSP00000506837.1:p.Arg646Leu
ENST00000684429.1:c.2222G>T	ENSP00000507224.1:p.Arg741Leu
ENST00000684464.1:c.2387G>T	ENSP00000508333.1:p.Arg796Leu
ENST00000684544.1:c.2213G>T	ENSP00000507337.1:p.Arg738Leu
ENST00000684559.1:n.1049G>T
ENST00000684760.1:c.2561G>T	ENSP00000507696.1:p.Arg854Leu
ENST00000684776.1:c.*777G>T	ENSP00000507861.1:n.*777G>T
ENST00000355528.9:c.2294G>T MANE Select	ENSP00000347719.4:p.Arg765Leu
ENST00000355528.8:c.2294G>T	ENSP00000347719.4:p.Arg765Leu
ENST00000539345.6:c.2294G>T	ENSP00000440671.2:p.Arg765Leu
ENST00000571618.5:n.472G>T
ENST00000571796.5:n.952G>T
ENST00000574422.1:c.608G>T	ENSP00000458599.1:p.Arg203Leu
ENST00000574818.5:n.352G>T
ENST00000574886.1:n.678G>T
ENST00000574975.5:c.671G>T	ENSP00000461680.1:p.Arg224Leu
ENST00000576760.5:c.608G>T	ENSP00000460949.1:p.Arg203Leu
NM_005993.4:c.2294G>T	NP_005984.3:p.Arg765Leu
XM_005256396.3:c.2243G>T	XP_005256453.1:p.Arg748Leu
XM_005256399.3:c.1010G>T	XP_005256456.1:p.Arg337Leu
XM_005256400.3:c.608G>T	XP_005256457.1:p.Arg203Leu
XM_005256401.3:c.608G>T	XP_005256458.1:p.Arg203Leu
XM_005256402.3:c.608G>T	XP_005256459.1:p.Arg203Leu
XM_005256403.3:c.608G>T	XP_005256460.1:p.Arg203Leu
XM_005256404.3:c.608G>T	XP_005256461.1:p.Arg203Leu
XM_006722290.2:c.2213G>T	XP_006722353.1:p.Arg738Leu
XM_006722291.2:c.998G>T	XP_006722354.1:p.Arg333Leu
XM_006722292.2:c.608G>T	XP_006722355.1:p.Arg203Leu
XM_011523589.1:c.1949G>T	XP_011521891.1:p.Arg650Leu
XM_011523590.1:c.1937G>T	XP_011521892.1:p.Arg646Leu
XM_011523591.1:c.1934G>T	XP_011521893.1:p.Arg645Leu
XM_011523592.1:c.1847G>T	XP_011521894.1:p.Arg616Leu
XM_011523593.1:c.1541G>T	XP_011521895.1:p.Arg514Leu
XM_011523594.1:c.1022G>T	XP_011521896.1:p.Arg341Leu
XM_011523595.1:c.989G>T	XP_011521897.1:p.Arg330Leu
XM_011523596.1:c.*25G>T	XP_011521898.1:n.*25G>T
XM_011523597.1:c.755G>T	XP_011521899.1:p.Arg252Leu
XM_011523598.1:c.752G>T	XP_011521900.1:p.Arg251Leu
XM_011523599.1:c.746G>T	XP_011521901.1:p.Arg249Leu
XM_011523600.1:c.608G>T	XP_011521902.1:p.Arg203Leu
XR_430033.2:n.2402G>T
XM_005256396.4:c.2243G>T	XP_005256453.1:p.Arg748Leu
XM_005256399.5:c.1010G>T	XP_005256456.1:p.Arg337Leu
XM_005256404.4:c.608G>T	XP_005256461.1:p.Arg203Leu
XM_006722291.4:c.998G>T	XP_006722354.1:p.Arg333Leu
XM_006722292.3:c.608G>T	XP_006722355.1:p.Arg203Leu
XM_011523589.2:c.1949G>T	XP_011521891.1:p.Arg650Leu
XM_011523591.2:c.1934G>T	XP_011521893.1:p.Arg645Leu
XM_011523593.2:c.1541G>T	XP_011521895.1:p.Arg514Leu
XM_011523594.2:c.1022G>T	XP_011521896.1:p.Arg341Leu
XM_011523595.3:c.989G>T	XP_011521897.1:p.Arg330Leu
XM_011523597.2:c.755G>T	XP_011521899.1:p.Arg252Leu
XM_011523599.2:c.746G>T	XP_011521901.1:p.Arg249Leu
XM_011523600.3:c.608G>T	XP_011521902.1:p.Arg203Leu
XM_017024987.1:c.2105G>T	XP_016880476.1:p.Arg702Leu
XM_017024989.1:c.656G>T	XP_016880478.1:p.Arg219Leu
XM_017024990.2:c.608G>T	XP_016880479.1:p.Arg203Leu
XM_024450899.1:c.608G>T	XP_024306667.1:p.Arg203Leu
XM_024450900.1:c.608G>T	XP_024306668.1:p.Arg203Leu
XM_024450901.1:c.608G>T	XP_024306669.1:p.Arg203Leu
XM_024450902.1:c.608G>T	XP_024306670.1:p.Arg203Leu
XR_001752597.1:n.2402G>T
XR_001752598.1:n.2402G>T
XR_001752599.1:n.2402G>T
XR_001752600.1:n.2320G>T
NM_005993.5:c.2294G>T MANE Select	NP_005984.3:p.Arg765Leu