Canonical Allele Identifier: CA502597411

Gene: TBCD

Linked Data

• ClinVar Variation Id: 1978363
• ClinVar RCV Id: RCV002741797
• dbSNP Id: rs1599601838
• gnomAD v3: 17-82924982-G-A
• gnomAD v4: 17-82924982-G-A
• MyVariant Identifiers: chr17:g.80882858G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924982G>A , CM000679.2:g.82924982G>A	GRCh38
NC_000017.10:g.80882858G>A , CM000679.1:g.80882858G>A	GRCh37
NC_000017.9:g.78476147G>A	NCBI36
NG_011721.1:g.177919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1512G>A
ENST00000576677.6:n.1433G>A
ENST00000681983.1:n.2440G>A
ENST00000682099.1:n.1201G>A
ENST00000682213.1:c.*275G>A	ENSP00000508166.1:n.*275G>A
ENST00000682315.1:c.618G>A	ENSP00000507232.1:p.Glu206=
ENST00000682479.1:c.2394G>A	ENSP00000508214.1:p.Glu798=
ENST00000682610.1:n.1544G>A
ENST00000682654.1:c.*275G>A	ENSP00000507412.1:n.*275G>A
ENST00000682722.1:c.2253G>A	ENSP00000508364.1:p.Glu751=
ENST00000683041.1:c.*275G>A	ENSP00000506994.1:n.*275G>A
ENST00000683184.1:c.*1957G>A	ENSP00000507757.1:n.*1957G>A
ENST00000683282.1:c.2220G>A	ENSP00000506913.1:p.Glu740=
ENST00000683444.1:c.*1881G>A	ENSP00000507553.1:n.*1881G>A
ENST00000683584.1:n.1127G>A
ENST00000683821.1:c.618G>A	ENSP00000507651.1:p.Glu206=
ENST00000683839.1:n.1758G>A
ENST00000684000.1:c.2388G>A	ENSP00000506795.1:p.Glu796=
ENST00000684188.1:c.2115G>A	ENSP00000507153.1:p.Glu705=
ENST00000684349.1:c.2490G>A	ENSP00000508067.1:p.Glu830=
ENST00000684361.1:c.2304G>A	ENSP00000507364.1:p.Glu768=
ENST00000684408.1:c.1947G>A	ENSP00000506837.1:p.Glu649=
ENST00000684429.1:c.2232G>A	ENSP00000507224.1:p.Glu744=
ENST00000684464.1:c.2397G>A	ENSP00000508333.1:p.Glu799=
ENST00000684544.1:c.2223G>A	ENSP00000507337.1:p.Glu741=
ENST00000684559.1:n.1059G>A
ENST00000684760.1:c.2571G>A	ENSP00000507696.1:p.Glu857=
ENST00000684776.1:c.*787G>A	ENSP00000507861.1:n.*787G>A
ENST00000355528.9:c.2304G>A MANE Select	ENSP00000347719.4:p.Glu768=
ENST00000355528.8:c.2304G>A	ENSP00000347719.4:p.Glu768=
ENST00000539345.6:c.2304G>A	ENSP00000440671.2:p.Glu768=
ENST00000571618.5:n.482G>A
ENST00000571796.5:n.962G>A
ENST00000574422.1:c.618G>A	ENSP00000458599.1:p.Glu206=
ENST00000574818.5:n.362G>A
ENST00000574886.1:n.688G>A
ENST00000574975.5:c.681G>A	ENSP00000461680.1:p.Glu227=
ENST00000576760.5:c.618G>A	ENSP00000460949.1:p.Glu206=
NM_005993.4:c.2304G>A	NP_005984.3:p.Glu768=
XM_005256396.3:c.2253G>A	XP_005256453.1:p.Glu751=
XM_005256399.3:c.1020G>A	XP_005256456.1:p.Glu340=
XM_005256400.3:c.618G>A	XP_005256457.1:p.Glu206=
XM_005256401.3:c.618G>A	XP_005256458.1:p.Glu206=
XM_005256402.3:c.618G>A	XP_005256459.1:p.Glu206=
XM_005256403.3:c.618G>A	XP_005256460.1:p.Glu206=
XM_005256404.3:c.618G>A	XP_005256461.1:p.Glu206=
XM_006722290.2:c.2223G>A	XP_006722353.1:p.Glu741=
XM_006722291.2:c.1008G>A	XP_006722354.1:p.Glu336=
XM_006722292.2:c.618G>A	XP_006722355.1:p.Glu206=
XM_011523589.1:c.1959G>A	XP_011521891.1:p.Glu653=
XM_011523590.1:c.1947G>A	XP_011521892.1:p.Glu649=
XM_011523591.1:c.1944G>A	XP_011521893.1:p.Glu648=
XM_011523592.1:c.1857G>A	XP_011521894.1:p.Glu619=
XM_011523593.1:c.1551G>A	XP_011521895.1:p.Glu517=
XM_011523594.1:c.1032G>A	XP_011521896.1:p.Glu344=
XM_011523595.1:c.999G>A	XP_011521897.1:p.Glu333=
XM_011523596.1:c.*35G>A	XP_011521898.1:n.*35G>A
XM_011523597.1:c.765G>A	XP_011521899.1:p.Glu255=
XM_011523598.1:c.762G>A	XP_011521900.1:p.Glu254=
XM_011523599.1:c.756G>A	XP_011521901.1:p.Glu252=
XM_011523600.1:c.618G>A	XP_011521902.1:p.Glu206=
XR_430033.2:n.2412G>A
XM_005256396.4:c.2253G>A	XP_005256453.1:p.Glu751=
XM_005256399.5:c.1020G>A	XP_005256456.1:p.Glu340=
XM_005256404.4:c.618G>A	XP_005256461.1:p.Glu206=
XM_006722291.4:c.1008G>A	XP_006722354.1:p.Glu336=
XM_006722292.3:c.618G>A	XP_006722355.1:p.Glu206=
XM_011523589.2:c.1959G>A	XP_011521891.1:p.Glu653=
XM_011523591.2:c.1944G>A	XP_011521893.1:p.Glu648=
XM_011523593.2:c.1551G>A	XP_011521895.1:p.Glu517=
XM_011523594.2:c.1032G>A	XP_011521896.1:p.Glu344=
XM_011523595.3:c.999G>A	XP_011521897.1:p.Glu333=
XM_011523597.2:c.765G>A	XP_011521899.1:p.Glu255=
XM_011523599.2:c.756G>A	XP_011521901.1:p.Glu252=
XM_011523600.3:c.618G>A	XP_011521902.1:p.Glu206=
XM_017024987.1:c.2115G>A	XP_016880476.1:p.Glu705=
XM_017024989.1:c.666G>A	XP_016880478.1:p.Glu222=
XM_017024990.2:c.618G>A	XP_016880479.1:p.Glu206=
XM_024450899.1:c.618G>A	XP_024306667.1:p.Glu206=
XM_024450900.1:c.618G>A	XP_024306668.1:p.Glu206=
XM_024450901.1:c.618G>A	XP_024306669.1:p.Glu206=
XM_024450902.1:c.618G>A	XP_024306670.1:p.Glu206=
XR_001752597.1:n.2412G>A
XR_001752598.1:n.2412G>A
XR_001752599.1:n.2412G>A
XR_001752600.1:n.2330G>A
NM_005993.5:c.2304G>A MANE Select	NP_005984.3:p.Glu768=