Canonical Allele Identifier: CA8861966

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82814856A>G , CM000679.2:g.82814856A>G	GRCh38
NC_000017.10:g.80772732A>G , CM000679.1:g.80772732A>G	GRCh37
NC_000017.9:g.78366021A>G	NCBI36
NG_011721.1:g.67793A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681983.1:n.1376A>G
ENST00000682107.1:n.1360A>G
ENST00000682213.1:c.1240A>G	ENSP00000508166.1:p.Lys414Glu
ENST00000682479.1:c.1330A>G	ENSP00000508214.1:p.Lys444Glu
ENST00000682610.1:n.480A>G
ENST00000682722.1:c.1189A>G	ENSP00000508364.1:p.Lys397Glu
ENST00000682921.1:n.1162A>G
ENST00000683009.1:n.1360A>G
ENST00000683041.1:c.1240A>G	ENSP00000506994.1:p.Lys414Glu
ENST00000683184.1:c.*893A>G	ENSP00000507757.1:n.*893A>G
ENST00000683282.1:c.1240A>G	ENSP00000506913.1:p.Lys414Glu
ENST00000683444.1:c.*817A>G	ENSP00000507553.1:n.*817A>G
ENST00000684000.1:c.1324A>G	ENSP00000506795.1:p.Lys442Glu
ENST00000684188.1:c.1051A>G	ENSP00000507153.1:p.Lys351Glu
ENST00000684349.1:c.1240A>G	ENSP00000508067.1:p.Lys414Glu
ENST00000684361.1:c.1240A>G	ENSP00000507364.1:p.Lys414Glu
ENST00000684408.1:c.1240A>G	ENSP00000506837.1:p.Lys414Glu
ENST00000684429.1:c.1168A>G	ENSP00000507224.1:p.Lys390Glu
ENST00000684464.1:c.1240A>G	ENSP00000508333.1:p.Lys414Glu
ENST00000684544.1:c.1240A>G	ENSP00000507337.1:p.Lys414Glu
ENST00000684760.1:c.1240A>G	ENSP00000507696.1:p.Lys414Glu
ENST00000684776.1:c.1223+5074A>G	ENSP00000507861.1:n.1223+5074A>G
ENST00000355528.9:c.1240A>G MANE Select	ENSP00000347719.4:p.Lys414Glu
ENST00000355528.8:c.1240A>G	ENSP00000347719.4:p.Lys414Glu
ENST00000539345.6:c.1240A>G	ENSP00000440671.2:p.Lys414Glu
NM_005993.4:c.1240A>G	NP_005984.3:p.Lys414Glu
XM_005256396.3:c.1189A>G	XP_005256453.1:p.Lys397Glu
XM_006722290.2:c.1240A>G	XP_006722353.1:p.Lys414Glu
XM_011523589.1:c.895A>G	XP_011521891.1:p.Lys299Glu
XM_011523590.1:c.1240A>G	XP_011521892.1:p.Lys414Glu
XM_011523591.1:c.880A>G	XP_011521893.1:p.Lys294Glu
XM_011523592.1:c.793A>G	XP_011521894.1:p.Lys265Glu
XM_011523593.1:c.487A>G	XP_011521895.1:p.Lys163Glu
XM_011523596.1:c.1240A>G	XP_011521898.1:p.Lys414Glu
XR_430033.2:n.1348A>G
XM_005256396.4:c.1189A>G	XP_005256453.1:p.Lys397Glu
XM_011523589.2:c.895A>G	XP_011521891.1:p.Lys299Glu
XM_011523591.2:c.880A>G	XP_011521893.1:p.Lys294Glu
XM_011523593.2:c.487A>G	XP_011521895.1:p.Lys163Glu
XM_017024987.1:c.1051A>G	XP_016880476.1:p.Lys351Glu
XM_017024988.1:c.1240A>G	XP_016880477.1:p.Lys414Glu
XR_001752597.1:n.1348A>G
XR_001752598.1:n.1348A>G
XR_001752599.1:n.1348A>G
XR_001752600.1:n.1348A>G
NM_005993.5:c.1240A>G MANE Select	NP_005984.3:p.Lys414Glu