Canonical Allele Identifier: CA502597389

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882828G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924952G>C , CM000679.2:g.82924952G>C	GRCh38
NC_000017.10:g.80882828G>C , CM000679.1:g.80882828G>C	GRCh37
NC_000017.9:g.78476117G>C	NCBI36
NG_011721.1:g.177889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1482G>C
ENST00000576677.6:n.1403G>C
ENST00000681983.1:n.2410G>C
ENST00000682099.1:n.1171G>C
ENST00000682213.1:c.*245G>C	ENSP00000508166.1:n.*245G>C
ENST00000682315.1:c.588G>C	ENSP00000507232.1:p.Thr196=
ENST00000682479.1:c.2364G>C	ENSP00000508214.1:p.Thr788=
ENST00000682610.1:n.1514G>C
ENST00000682654.1:c.*245G>C	ENSP00000507412.1:n.*245G>C
ENST00000682722.1:c.2223G>C	ENSP00000508364.1:p.Thr741=
ENST00000683041.1:c.*245G>C	ENSP00000506994.1:n.*245G>C
ENST00000683184.1:c.*1927G>C	ENSP00000507757.1:n.*1927G>C
ENST00000683282.1:c.2190G>C	ENSP00000506913.1:p.Thr730=
ENST00000683444.1:c.*1851G>C	ENSP00000507553.1:n.*1851G>C
ENST00000683584.1:n.1097G>C
ENST00000683821.1:c.588G>C	ENSP00000507651.1:p.Thr196=
ENST00000683839.1:n.1728G>C
ENST00000684000.1:c.2358G>C	ENSP00000506795.1:p.Thr786=
ENST00000684188.1:c.2085G>C	ENSP00000507153.1:p.Thr695=
ENST00000684349.1:c.2460G>C	ENSP00000508067.1:p.Thr820=
ENST00000684361.1:c.2274G>C	ENSP00000507364.1:p.Thr758=
ENST00000684408.1:c.1917G>C	ENSP00000506837.1:p.Thr639=
ENST00000684429.1:c.2202G>C	ENSP00000507224.1:p.Thr734=
ENST00000684464.1:c.2367G>C	ENSP00000508333.1:p.Thr789=
ENST00000684544.1:c.2193G>C	ENSP00000507337.1:p.Thr731=
ENST00000684559.1:n.1029G>C
ENST00000684760.1:c.2541G>C	ENSP00000507696.1:p.Thr847=
ENST00000684776.1:c.*757G>C	ENSP00000507861.1:n.*757G>C
ENST00000355528.9:c.2274G>C MANE Select	ENSP00000347719.4:p.Thr758=
ENST00000355528.8:c.2274G>C	ENSP00000347719.4:p.Thr758=
ENST00000539345.6:c.2274G>C	ENSP00000440671.2:p.Thr758=
ENST00000571618.5:n.452G>C
ENST00000571796.5:n.932G>C
ENST00000574422.1:c.588G>C	ENSP00000458599.1:p.Thr196=
ENST00000574818.5:n.332G>C
ENST00000574886.1:n.658G>C
ENST00000574975.5:c.651G>C	ENSP00000461680.1:p.Thr217=
ENST00000576760.5:c.588G>C	ENSP00000460949.1:p.Thr196=
NM_005993.4:c.2274G>C	NP_005984.3:p.Thr758=
XM_005256396.3:c.2223G>C	XP_005256453.1:p.Thr741=
XM_005256399.3:c.990G>C	XP_005256456.1:p.Thr330=
XM_005256400.3:c.588G>C	XP_005256457.1:p.Thr196=
XM_005256401.3:c.588G>C	XP_005256458.1:p.Thr196=
XM_005256402.3:c.588G>C	XP_005256459.1:p.Thr196=
XM_005256403.3:c.588G>C	XP_005256460.1:p.Thr196=
XM_005256404.3:c.588G>C	XP_005256461.1:p.Thr196=
XM_006722290.2:c.2193G>C	XP_006722353.1:p.Thr731=
XM_006722291.2:c.978G>C	XP_006722354.1:p.Thr326=
XM_006722292.2:c.588G>C	XP_006722355.1:p.Thr196=
XM_011523589.1:c.1929G>C	XP_011521891.1:p.Thr643=
XM_011523590.1:c.1917G>C	XP_011521892.1:p.Thr639=
XM_011523591.1:c.1914G>C	XP_011521893.1:p.Thr638=
XM_011523592.1:c.1827G>C	XP_011521894.1:p.Thr609=
XM_011523593.1:c.1521G>C	XP_011521895.1:p.Thr507=
XM_011523594.1:c.1002G>C	XP_011521896.1:p.Thr334=
XM_011523595.1:c.969G>C	XP_011521897.1:p.Thr323=
XM_011523596.1:c.*5G>C	XP_011521898.1:n.*5G>C
XM_011523597.1:c.735G>C	XP_011521899.1:p.Thr245=
XM_011523598.1:c.732G>C	XP_011521900.1:p.Thr244=
XM_011523599.1:c.726G>C	XP_011521901.1:p.Thr242=
XM_011523600.1:c.588G>C	XP_011521902.1:p.Thr196=
XR_430033.2:n.2382G>C
XM_005256396.4:c.2223G>C	XP_005256453.1:p.Thr741=
XM_005256399.5:c.990G>C	XP_005256456.1:p.Thr330=
XM_005256404.4:c.588G>C	XP_005256461.1:p.Thr196=
XM_006722291.4:c.978G>C	XP_006722354.1:p.Thr326=
XM_006722292.3:c.588G>C	XP_006722355.1:p.Thr196=
XM_011523589.2:c.1929G>C	XP_011521891.1:p.Thr643=
XM_011523591.2:c.1914G>C	XP_011521893.1:p.Thr638=
XM_011523593.2:c.1521G>C	XP_011521895.1:p.Thr507=
XM_011523594.2:c.1002G>C	XP_011521896.1:p.Thr334=
XM_011523595.3:c.969G>C	XP_011521897.1:p.Thr323=
XM_011523597.2:c.735G>C	XP_011521899.1:p.Thr245=
XM_011523599.2:c.726G>C	XP_011521901.1:p.Thr242=
XM_011523600.3:c.588G>C	XP_011521902.1:p.Thr196=
XM_017024987.1:c.2085G>C	XP_016880476.1:p.Thr695=
XM_017024989.1:c.636G>C	XP_016880478.1:p.Thr212=
XM_017024990.2:c.588G>C	XP_016880479.1:p.Thr196=
XM_024450899.1:c.588G>C	XP_024306667.1:p.Thr196=
XM_024450900.1:c.588G>C	XP_024306668.1:p.Thr196=
XM_024450901.1:c.588G>C	XP_024306669.1:p.Thr196=
XM_024450902.1:c.588G>C	XP_024306670.1:p.Thr196=
XR_001752597.1:n.2382G>C
XR_001752598.1:n.2382G>C
XR_001752599.1:n.2382G>C
XR_001752600.1:n.2300G>C
NM_005993.5:c.2274G>C MANE Select	NP_005984.3:p.Thr758=