Canonical Allele Identifier: CA401633384

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924984-A-G
• MyVariant Identifiers: chr17:g.80882860A>G (hg19) ; chr17:g.82924984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924984A>G , CM000679.2:g.82924984A>G	GRCh38
NC_000017.10:g.80882860A>G , CM000679.1:g.80882860A>G	GRCh37
NC_000017.9:g.78476149A>G	NCBI36
NG_011721.1:g.177921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1514A>G
ENST00000576677.6:n.1435A>G
ENST00000681983.1:n.2442A>G
ENST00000682099.1:n.1203A>G
ENST00000682213.1:c.*277A>G	ENSP00000508166.1:n.*277A>G
ENST00000682315.1:c.620A>G	ENSP00000507232.1:p.Glu207Gly
ENST00000682479.1:c.2396A>G	ENSP00000508214.1:p.Glu799Gly
ENST00000682610.1:n.1546A>G
ENST00000682654.1:c.*277A>G	ENSP00000507412.1:n.*277A>G
ENST00000682722.1:c.2255A>G	ENSP00000508364.1:p.Glu752Gly
ENST00000683041.1:c.*277A>G	ENSP00000506994.1:n.*277A>G
ENST00000683184.1:c.*1959A>G	ENSP00000507757.1:n.*1959A>G
ENST00000683282.1:c.2222A>G	ENSP00000506913.1:p.Glu741Gly
ENST00000683444.1:c.*1883A>G	ENSP00000507553.1:n.*1883A>G
ENST00000683584.1:n.1129A>G
ENST00000683821.1:c.620A>G	ENSP00000507651.1:p.Glu207Gly
ENST00000683839.1:n.1760A>G
ENST00000684000.1:c.2390A>G	ENSP00000506795.1:p.Glu797Gly
ENST00000684188.1:c.2117A>G	ENSP00000507153.1:p.Glu706Gly
ENST00000684349.1:c.2492A>G	ENSP00000508067.1:p.Glu831Gly
ENST00000684361.1:c.2306A>G	ENSP00000507364.1:p.Glu769Gly
ENST00000684408.1:c.1949A>G	ENSP00000506837.1:p.Glu650Gly
ENST00000684429.1:c.2234A>G	ENSP00000507224.1:p.Glu745Gly
ENST00000684464.1:c.2399A>G	ENSP00000508333.1:p.Glu800Gly
ENST00000684544.1:c.2225A>G	ENSP00000507337.1:p.Glu742Gly
ENST00000684559.1:n.1061A>G
ENST00000684760.1:c.2573A>G	ENSP00000507696.1:p.Glu858Gly
ENST00000684776.1:c.*789A>G	ENSP00000507861.1:n.*789A>G
ENST00000355528.9:c.2306A>G MANE Select	ENSP00000347719.4:p.Glu769Gly
ENST00000355528.8:c.2306A>G	ENSP00000347719.4:p.Glu769Gly
ENST00000539345.6:c.2306A>G	ENSP00000440671.2:p.Glu769Gly
ENST00000571618.5:n.484A>G
ENST00000571796.5:n.964A>G
ENST00000574422.1:c.620A>G	ENSP00000458599.1:p.Glu207Gly
ENST00000574818.5:n.364A>G
ENST00000574886.1:n.690A>G
ENST00000574975.5:c.683A>G	ENSP00000461680.1:p.Glu228Gly
ENST00000576760.5:c.620A>G	ENSP00000460949.1:p.Glu207Gly
NM_005993.4:c.2306A>G	NP_005984.3:p.Glu769Gly
XM_005256396.3:c.2255A>G	XP_005256453.1:p.Glu752Gly
XM_005256399.3:c.1022A>G	XP_005256456.1:p.Glu341Gly
XM_005256400.3:c.620A>G	XP_005256457.1:p.Glu207Gly
XM_005256401.3:c.620A>G	XP_005256458.1:p.Glu207Gly
XM_005256402.3:c.620A>G	XP_005256459.1:p.Glu207Gly
XM_005256403.3:c.620A>G	XP_005256460.1:p.Glu207Gly
XM_005256404.3:c.620A>G	XP_005256461.1:p.Glu207Gly
XM_006722290.2:c.2225A>G	XP_006722353.1:p.Glu742Gly
XM_006722291.2:c.1010A>G	XP_006722354.1:p.Glu337Gly
XM_006722292.2:c.620A>G	XP_006722355.1:p.Glu207Gly
XM_011523589.1:c.1961A>G	XP_011521891.1:p.Glu654Gly
XM_011523590.1:c.1949A>G	XP_011521892.1:p.Glu650Gly
XM_011523591.1:c.1946A>G	XP_011521893.1:p.Glu649Gly
XM_011523592.1:c.1859A>G	XP_011521894.1:p.Glu620Gly
XM_011523593.1:c.1553A>G	XP_011521895.1:p.Glu518Gly
XM_011523594.1:c.1034A>G	XP_011521896.1:p.Glu345Gly
XM_011523595.1:c.1001A>G	XP_011521897.1:p.Glu334Gly
XM_011523596.1:c.*37A>G	XP_011521898.1:n.*37A>G
XM_011523597.1:c.767A>G	XP_011521899.1:p.Glu256Gly
XM_011523598.1:c.764A>G	XP_011521900.1:p.Glu255Gly
XM_011523599.1:c.758A>G	XP_011521901.1:p.Glu253Gly
XM_011523600.1:c.620A>G	XP_011521902.1:p.Glu207Gly
XR_430033.2:n.2414A>G
XM_005256396.4:c.2255A>G	XP_005256453.1:p.Glu752Gly
XM_005256399.5:c.1022A>G	XP_005256456.1:p.Glu341Gly
XM_005256404.4:c.620A>G	XP_005256461.1:p.Glu207Gly
XM_006722291.4:c.1010A>G	XP_006722354.1:p.Glu337Gly
XM_006722292.3:c.620A>G	XP_006722355.1:p.Glu207Gly
XM_011523589.2:c.1961A>G	XP_011521891.1:p.Glu654Gly
XM_011523591.2:c.1946A>G	XP_011521893.1:p.Glu649Gly
XM_011523593.2:c.1553A>G	XP_011521895.1:p.Glu518Gly
XM_011523594.2:c.1034A>G	XP_011521896.1:p.Glu345Gly
XM_011523595.3:c.1001A>G	XP_011521897.1:p.Glu334Gly
XM_011523597.2:c.767A>G	XP_011521899.1:p.Glu256Gly
XM_011523599.2:c.758A>G	XP_011521901.1:p.Glu253Gly
XM_011523600.3:c.620A>G	XP_011521902.1:p.Glu207Gly
XM_017024987.1:c.2117A>G	XP_016880476.1:p.Glu706Gly
XM_017024989.1:c.668A>G	XP_016880478.1:p.Glu223Gly
XM_017024990.2:c.620A>G	XP_016880479.1:p.Glu207Gly
XM_024450899.1:c.620A>G	XP_024306667.1:p.Glu207Gly
XM_024450900.1:c.620A>G	XP_024306668.1:p.Glu207Gly
XM_024450901.1:c.620A>G	XP_024306669.1:p.Glu207Gly
XM_024450902.1:c.620A>G	XP_024306670.1:p.Glu207Gly
XR_001752597.1:n.2414A>G
XR_001752598.1:n.2414A>G
XR_001752599.1:n.2414A>G
XR_001752600.1:n.2332A>G
NM_005993.5:c.2306A>G MANE Select	NP_005984.3:p.Glu769Gly