Canonical Allele Identifier: CA8862753

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82903460G>A , CM000679.2:g.82903460G>A	GRCh38
NC_000017.10:g.80861336G>A , CM000679.1:g.80861336G>A	GRCh37
NC_000017.9:g.78454625G>A	NCBI36
NG_011721.1:g.156397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681983.1:n.1922G>A
ENST00000682099.1:n.683G>A
ENST00000682213.1:c.1786G>A	ENSP00000508166.1:p.Glu596Lys
ENST00000682225.1:n.1068G>A
ENST00000682315.1:c.100G>A	ENSP00000507232.1:p.Glu34Lys
ENST00000682479.1:c.1876G>A	ENSP00000508214.1:p.Glu626Lys
ENST00000682610.1:n.1026G>A
ENST00000682654.1:c.100G>A	ENSP00000507412.1:p.Glu34Lys
ENST00000682722.1:c.1735G>A	ENSP00000508364.1:p.Glu579Lys
ENST00000682921.1:n.1708G>A
ENST00000683009.1:n.1906G>A
ENST00000683041.1:c.1786G>A	ENSP00000506994.1:p.Glu596Lys
ENST00000683184.1:c.*1439G>A	ENSP00000507757.1:n.*1439G>A
ENST00000683282.1:c.1786G>A	ENSP00000506913.1:p.Glu596Lys
ENST00000683444.1:c.*1363G>A	ENSP00000507553.1:n.*1363G>A
ENST00000683584.1:n.609G>A
ENST00000683821.1:c.100G>A	ENSP00000507651.1:p.Glu34Lys
ENST00000683839.1:n.1240G>A
ENST00000684000.1:c.1870G>A	ENSP00000506795.1:p.Glu624Lys
ENST00000684188.1:c.1597G>A	ENSP00000507153.1:p.Glu533Lys
ENST00000684349.1:c.1972G>A	ENSP00000508067.1:p.Glu658Lys
ENST00000684361.1:c.1786G>A	ENSP00000507364.1:p.Glu596Lys
ENST00000684408.1:c.1650-8298G>A	ENSP00000506837.1:n.1650-8298G>A
ENST00000684429.1:c.1714G>A	ENSP00000507224.1:p.Glu572Lys
ENST00000684464.1:c.1786G>A	ENSP00000508333.1:p.Glu596Lys
ENST00000684544.1:c.1705G>A	ENSP00000507337.1:p.Glu569Lys
ENST00000684559.1:n.541G>A
ENST00000684760.1:c.2053G>A	ENSP00000507696.1:p.Glu685Lys
ENST00000684776.1:c.*269G>A	ENSP00000507861.1:n.*269G>A
ENST00000355528.9:c.1786G>A MANE Select	ENSP00000347719.4:p.Glu596Lys
ENST00000355528.8:c.1786G>A	ENSP00000347719.4:p.Glu596Lys
ENST00000539345.6:c.1786G>A	ENSP00000440671.2:p.Glu596Lys
ENST00000571316.5:c.304G>A	ENSP00000458365.1:p.Glu102Lys
ENST00000571712.5:c.-39G>A	ENSP00000459063.1:n.-39G>A
ENST00000571796.5:n.303G>A
ENST00000572953.5:c.244G>A	ENSP00000458556.1:p.Glu82Lys
ENST00000572984.5:c.100G>A	ENSP00000461167.1:p.Glu34Lys
ENST00000574422.1:c.100G>A	ENSP00000458599.1:p.Glu34Lys
ENST00000574801.5:n.353-2476G>A
ENST00000574975.5:c.163G>A	ENSP00000461680.1:p.Glu55Lys
ENST00000576160.6:c.100G>A	ENSP00000458535.2:p.Glu34Lys
ENST00000576760.5:c.100G>A	ENSP00000460949.1:p.Glu34Lys
ENST00000576996.5:c.100G>A	ENSP00000460450.1:p.Glu34Lys
NM_005993.4:c.1786G>A	NP_005984.3:p.Glu596Lys
XM_005256396.3:c.1735G>A	XP_005256453.1:p.Glu579Lys
XM_005256399.3:c.502G>A	XP_005256456.1:p.Glu168Lys
XM_005256400.3:c.100G>A	XP_005256457.1:p.Glu34Lys
XM_005256401.3:c.100G>A	XP_005256458.1:p.Glu34Lys
XM_005256402.3:c.100G>A	XP_005256459.1:p.Glu34Lys
XM_005256403.3:c.100G>A	XP_005256460.1:p.Glu34Lys
XM_005256404.3:c.100G>A	XP_005256461.1:p.Glu34Lys
XM_006722290.2:c.1705G>A	XP_006722353.1:p.Glu569Lys
XM_006722291.2:c.490G>A	XP_006722354.1:p.Glu164Lys
XM_006722292.2:c.100G>A	XP_006722355.1:p.Glu34Lys
XM_011523589.1:c.1441G>A	XP_011521891.1:p.Glu481Lys
XM_011523590.1:c.1650-8298G>A	XP_011521892.1:n.1650-8298G>A
XM_011523591.1:c.1426G>A	XP_011521893.1:p.Glu476Lys
XM_011523592.1:c.1339G>A	XP_011521894.1:p.Glu447Lys
XM_011523593.1:c.1033G>A	XP_011521895.1:p.Glu345Lys
XM_011523594.1:c.514G>A	XP_011521896.1:p.Glu172Lys
XM_011523595.1:c.481G>A	XP_011521897.1:p.Glu161Lys
XM_011523596.1:c.1786G>A	XP_011521898.1:p.Glu596Lys
XM_011523597.1:c.247G>A	XP_011521899.1:p.Glu83Lys
XM_011523598.1:c.244G>A	XP_011521900.1:p.Glu82Lys
XM_011523599.1:c.238G>A	XP_011521901.1:p.Glu80Lys
XM_011523600.1:c.100G>A	XP_011521902.1:p.Glu34Lys
XR_430033.2:n.1894G>A
XM_005256396.4:c.1735G>A	XP_005256453.1:p.Glu579Lys
XM_005256399.5:c.502G>A	XP_005256456.1:p.Glu168Lys
XM_005256404.4:c.100G>A	XP_005256461.1:p.Glu34Lys
XM_006722291.4:c.490G>A	XP_006722354.1:p.Glu164Lys
XM_006722292.3:c.100G>A	XP_006722355.1:p.Glu34Lys
XM_011523589.2:c.1441G>A	XP_011521891.1:p.Glu481Lys
XM_011523591.2:c.1426G>A	XP_011521893.1:p.Glu476Lys
XM_011523593.2:c.1033G>A	XP_011521895.1:p.Glu345Lys
XM_011523594.2:c.514G>A	XP_011521896.1:p.Glu172Lys
XM_011523595.3:c.481G>A	XP_011521897.1:p.Glu161Lys
XM_011523597.2:c.247G>A	XP_011521899.1:p.Glu83Lys
XM_011523599.2:c.238G>A	XP_011521901.1:p.Glu80Lys
XM_011523600.3:c.100G>A	XP_011521902.1:p.Glu34Lys
XM_017024987.1:c.1597G>A	XP_016880476.1:p.Glu533Lys
XM_017024988.1:c.1786G>A	XP_016880477.1:p.Glu596Lys
XM_017024989.1:c.148G>A	XP_016880478.1:p.Glu50Lys
XM_017024990.2:c.100G>A	XP_016880479.1:p.Glu34Lys
XM_024450899.1:c.100G>A	XP_024306667.1:p.Glu34Lys
XM_024450900.1:c.100G>A	XP_024306668.1:p.Glu34Lys
XM_024450901.1:c.100G>A	XP_024306669.1:p.Glu34Lys
XM_024450902.1:c.100G>A	XP_024306670.1:p.Glu34Lys
XR_001752597.1:n.1894G>A
XR_001752598.1:n.1894G>A
XR_001752599.1:n.1894G>A
XR_001752600.1:n.1894G>A
NM_005993.5:c.1786G>A MANE Select	NP_005984.3:p.Glu596Lys