Canonical Allele Identifier: CA502597435

Gene: TBCD

Linked Data

• dbSNP Id: rs1262426460
• gnomAD v2: 17-80882891-G-A
• gnomAD v4: 17-82925015-G-A
• MyVariant Identifiers: chr17:g.80882891G>A (hg19) ; chr17:g.82925015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925015G>A , CM000679.2:g.82925015G>A	GRCh38
NC_000017.10:g.80882891G>A , CM000679.1:g.80882891G>A	GRCh37
NC_000017.9:g.78476180G>A	NCBI36
NG_011721.1:g.177952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1545G>A
ENST00000576677.6:n.1466G>A
ENST00000681983.1:n.2473G>A
ENST00000682099.1:n.1234G>A
ENST00000682213.1:c.*308G>A	ENSP00000508166.1:n.*308G>A
ENST00000682315.1:c.651G>A	ENSP00000507232.1:p.Leu217=
ENST00000682479.1:c.2427G>A	ENSP00000508214.1:p.Leu809=
ENST00000682610.1:n.1577G>A
ENST00000682654.1:c.*308G>A	ENSP00000507412.1:n.*308G>A
ENST00000682722.1:c.2286G>A	ENSP00000508364.1:p.Leu762=
ENST00000683041.1:c.*308G>A	ENSP00000506994.1:n.*308G>A
ENST00000683184.1:c.*1990G>A	ENSP00000507757.1:n.*1990G>A
ENST00000683282.1:c.2253G>A	ENSP00000506913.1:p.Leu751=
ENST00000683444.1:c.*1914G>A	ENSP00000507553.1:n.*1914G>A
ENST00000683584.1:n.1160G>A
ENST00000683821.1:c.651G>A	ENSP00000507651.1:p.Leu217=
ENST00000683839.1:n.1791G>A
ENST00000684000.1:c.2421G>A	ENSP00000506795.1:p.Leu807=
ENST00000684188.1:c.2148G>A	ENSP00000507153.1:p.Leu716=
ENST00000684349.1:c.2523G>A	ENSP00000508067.1:p.Leu841=
ENST00000684361.1:c.2337G>A	ENSP00000507364.1:p.Leu779=
ENST00000684408.1:c.1980G>A	ENSP00000506837.1:p.Leu660=
ENST00000684429.1:c.2265G>A	ENSP00000507224.1:p.Leu755=
ENST00000684464.1:c.2430G>A	ENSP00000508333.1:p.Leu810=
ENST00000684544.1:c.2256G>A	ENSP00000507337.1:p.Leu752=
ENST00000684559.1:n.1092G>A
ENST00000684760.1:c.2604G>A	ENSP00000507696.1:p.Leu868=
ENST00000684776.1:c.*820G>A	ENSP00000507861.1:n.*820G>A
ENST00000355528.9:c.2337G>A MANE Select	ENSP00000347719.4:p.Leu779=
ENST00000355528.8:c.2337G>A	ENSP00000347719.4:p.Leu779=
ENST00000539345.6:c.2337G>A	ENSP00000440671.2:p.Leu779=
ENST00000571618.5:n.515G>A
ENST00000571796.5:n.995G>A
ENST00000574422.1:c.651G>A	ENSP00000458599.1:p.Leu217=
ENST00000574818.5:n.395G>A
ENST00000574886.1:n.721G>A
ENST00000574975.5:c.714G>A	ENSP00000461680.1:p.Leu238=
ENST00000576760.5:c.651G>A	ENSP00000460949.1:p.Leu217=
NM_005993.4:c.2337G>A	NP_005984.3:p.Leu779=
XM_005256396.3:c.2286G>A	XP_005256453.1:p.Leu762=
XM_005256399.3:c.1053G>A	XP_005256456.1:p.Leu351=
XM_005256400.3:c.651G>A	XP_005256457.1:p.Leu217=
XM_005256401.3:c.651G>A	XP_005256458.1:p.Leu217=
XM_005256402.3:c.651G>A	XP_005256459.1:p.Leu217=
XM_005256403.3:c.651G>A	XP_005256460.1:p.Leu217=
XM_005256404.3:c.651G>A	XP_005256461.1:p.Leu217=
XM_006722290.2:c.2256G>A	XP_006722353.1:p.Leu752=
XM_006722291.2:c.1041G>A	XP_006722354.1:p.Leu347=
XM_006722292.2:c.651G>A	XP_006722355.1:p.Leu217=
XM_011523589.1:c.1992G>A	XP_011521891.1:p.Leu664=
XM_011523590.1:c.1980G>A	XP_011521892.1:p.Leu660=
XM_011523591.1:c.1977G>A	XP_011521893.1:p.Leu659=
XM_011523592.1:c.1890G>A	XP_011521894.1:p.Leu630=
XM_011523593.1:c.1584G>A	XP_011521895.1:p.Leu528=
XM_011523594.1:c.1065G>A	XP_011521896.1:p.Leu355=
XM_011523595.1:c.1032G>A	XP_011521897.1:p.Leu344=
XM_011523596.1:c.*68G>A	XP_011521898.1:n.*68G>A
XM_011523597.1:c.798G>A	XP_011521899.1:p.Leu266=
XM_011523598.1:c.795G>A	XP_011521900.1:p.Leu265=
XM_011523599.1:c.789G>A	XP_011521901.1:p.Leu263=
XM_011523600.1:c.651G>A	XP_011521902.1:p.Leu217=
XR_430033.2:n.2445G>A
XM_005256396.4:c.2286G>A	XP_005256453.1:p.Leu762=
XM_005256399.5:c.1053G>A	XP_005256456.1:p.Leu351=
XM_005256404.4:c.651G>A	XP_005256461.1:p.Leu217=
XM_006722291.4:c.1041G>A	XP_006722354.1:p.Leu347=
XM_006722292.3:c.651G>A	XP_006722355.1:p.Leu217=
XM_011523589.2:c.1992G>A	XP_011521891.1:p.Leu664=
XM_011523591.2:c.1977G>A	XP_011521893.1:p.Leu659=
XM_011523593.2:c.1584G>A	XP_011521895.1:p.Leu528=
XM_011523594.2:c.1065G>A	XP_011521896.1:p.Leu355=
XM_011523595.3:c.1032G>A	XP_011521897.1:p.Leu344=
XM_011523597.2:c.798G>A	XP_011521899.1:p.Leu266=
XM_011523599.2:c.789G>A	XP_011521901.1:p.Leu263=
XM_011523600.3:c.651G>A	XP_011521902.1:p.Leu217=
XM_017024987.1:c.2148G>A	XP_016880476.1:p.Leu716=
XM_017024989.1:c.699G>A	XP_016880478.1:p.Leu233=
XM_017024990.2:c.651G>A	XP_016880479.1:p.Leu217=
XM_024450899.1:c.651G>A	XP_024306667.1:p.Leu217=
XM_024450900.1:c.651G>A	XP_024306668.1:p.Leu217=
XM_024450901.1:c.651G>A	XP_024306669.1:p.Leu217=
XM_024450902.1:c.651G>A	XP_024306670.1:p.Leu217=
XR_001752597.1:n.2445G>A
XR_001752598.1:n.2445G>A
XR_001752599.1:n.2445G>A
XR_001752600.1:n.2363G>A
NM_005993.5:c.2337G>A MANE Select	NP_005984.3:p.Leu779=