Canonical Allele Identifier: CA401633272

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924948-T-C
• MyVariant Identifiers: chr17:g.80882824T>C (hg19) ; chr17:g.82924948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924948T>C , CM000679.2:g.82924948T>C	GRCh38
NC_000017.10:g.80882824T>C , CM000679.1:g.80882824T>C	GRCh37
NC_000017.9:g.78476113T>C	NCBI36
NG_011721.1:g.177885T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1478T>C
ENST00000576677.6:n.1399T>C
ENST00000681983.1:n.2406T>C
ENST00000682099.1:n.1167T>C
ENST00000682213.1:c.*241T>C	ENSP00000508166.1:n.*241T>C
ENST00000682315.1:c.584T>C	ENSP00000507232.1:p.Ile195Thr
ENST00000682479.1:c.2360T>C	ENSP00000508214.1:p.Ile787Thr
ENST00000682610.1:n.1510T>C
ENST00000682654.1:c.*241T>C	ENSP00000507412.1:n.*241T>C
ENST00000682722.1:c.2219T>C	ENSP00000508364.1:p.Ile740Thr
ENST00000683041.1:c.*241T>C	ENSP00000506994.1:n.*241T>C
ENST00000683184.1:c.*1923T>C	ENSP00000507757.1:n.*1923T>C
ENST00000683282.1:c.2186T>C	ENSP00000506913.1:p.Ile729Thr
ENST00000683444.1:c.*1847T>C	ENSP00000507553.1:n.*1847T>C
ENST00000683584.1:n.1093T>C
ENST00000683821.1:c.584T>C	ENSP00000507651.1:p.Ile195Thr
ENST00000683839.1:n.1724T>C
ENST00000684000.1:c.2354T>C	ENSP00000506795.1:p.Ile785Thr
ENST00000684188.1:c.2081T>C	ENSP00000507153.1:p.Ile694Thr
ENST00000684349.1:c.2456T>C	ENSP00000508067.1:p.Ile819Thr
ENST00000684361.1:c.2270T>C	ENSP00000507364.1:p.Ile757Thr
ENST00000684408.1:c.1913T>C	ENSP00000506837.1:p.Ile638Thr
ENST00000684429.1:c.2198T>C	ENSP00000507224.1:p.Ile733Thr
ENST00000684464.1:c.2363T>C	ENSP00000508333.1:p.Ile788Thr
ENST00000684544.1:c.2189T>C	ENSP00000507337.1:p.Ile730Thr
ENST00000684559.1:n.1025T>C
ENST00000684760.1:c.2537T>C	ENSP00000507696.1:p.Ile846Thr
ENST00000684776.1:c.*753T>C	ENSP00000507861.1:n.*753T>C
ENST00000355528.9:c.2270T>C MANE Select	ENSP00000347719.4:p.Ile757Thr
ENST00000355528.8:c.2270T>C	ENSP00000347719.4:p.Ile757Thr
ENST00000539345.6:c.2270T>C	ENSP00000440671.2:p.Ile757Thr
ENST00000571618.5:n.448T>C
ENST00000571796.5:n.928T>C
ENST00000574422.1:c.584T>C	ENSP00000458599.1:p.Ile195Thr
ENST00000574818.5:n.328T>C
ENST00000574886.1:n.654T>C
ENST00000574975.5:c.647T>C	ENSP00000461680.1:p.Ile216Thr
ENST00000576760.5:c.584T>C	ENSP00000460949.1:p.Ile195Thr
NM_005993.4:c.2270T>C	NP_005984.3:p.Ile757Thr
XM_005256396.3:c.2219T>C	XP_005256453.1:p.Ile740Thr
XM_005256399.3:c.986T>C	XP_005256456.1:p.Ile329Thr
XM_005256400.3:c.584T>C	XP_005256457.1:p.Ile195Thr
XM_005256401.3:c.584T>C	XP_005256458.1:p.Ile195Thr
XM_005256402.3:c.584T>C	XP_005256459.1:p.Ile195Thr
XM_005256403.3:c.584T>C	XP_005256460.1:p.Ile195Thr
XM_005256404.3:c.584T>C	XP_005256461.1:p.Ile195Thr
XM_006722290.2:c.2189T>C	XP_006722353.1:p.Ile730Thr
XM_006722291.2:c.974T>C	XP_006722354.1:p.Ile325Thr
XM_006722292.2:c.584T>C	XP_006722355.1:p.Ile195Thr
XM_011523589.1:c.1925T>C	XP_011521891.1:p.Ile642Thr
XM_011523590.1:c.1913T>C	XP_011521892.1:p.Ile638Thr
XM_011523591.1:c.1910T>C	XP_011521893.1:p.Ile637Thr
XM_011523592.1:c.1823T>C	XP_011521894.1:p.Ile608Thr
XM_011523593.1:c.1517T>C	XP_011521895.1:p.Ile506Thr
XM_011523594.1:c.998T>C	XP_011521896.1:p.Ile333Thr
XM_011523595.1:c.965T>C	XP_011521897.1:p.Ile322Thr
XM_011523596.1:c.*1T>C	XP_011521898.1:n.*1T>C
XM_011523597.1:c.731T>C	XP_011521899.1:p.Ile244Thr
XM_011523598.1:c.728T>C	XP_011521900.1:p.Ile243Thr
XM_011523599.1:c.722T>C	XP_011521901.1:p.Ile241Thr
XM_011523600.1:c.584T>C	XP_011521902.1:p.Ile195Thr
XR_430033.2:n.2378T>C
XM_005256396.4:c.2219T>C	XP_005256453.1:p.Ile740Thr
XM_005256399.5:c.986T>C	XP_005256456.1:p.Ile329Thr
XM_005256404.4:c.584T>C	XP_005256461.1:p.Ile195Thr
XM_006722291.4:c.974T>C	XP_006722354.1:p.Ile325Thr
XM_006722292.3:c.584T>C	XP_006722355.1:p.Ile195Thr
XM_011523589.2:c.1925T>C	XP_011521891.1:p.Ile642Thr
XM_011523591.2:c.1910T>C	XP_011521893.1:p.Ile637Thr
XM_011523593.2:c.1517T>C	XP_011521895.1:p.Ile506Thr
XM_011523594.2:c.998T>C	XP_011521896.1:p.Ile333Thr
XM_011523595.3:c.965T>C	XP_011521897.1:p.Ile322Thr
XM_011523597.2:c.731T>C	XP_011521899.1:p.Ile244Thr
XM_011523599.2:c.722T>C	XP_011521901.1:p.Ile241Thr
XM_011523600.3:c.584T>C	XP_011521902.1:p.Ile195Thr
XM_017024987.1:c.2081T>C	XP_016880476.1:p.Ile694Thr
XM_017024989.1:c.632T>C	XP_016880478.1:p.Ile211Thr
XM_017024990.2:c.584T>C	XP_016880479.1:p.Ile195Thr
XM_024450899.1:c.584T>C	XP_024306667.1:p.Ile195Thr
XM_024450900.1:c.584T>C	XP_024306668.1:p.Ile195Thr
XM_024450901.1:c.584T>C	XP_024306669.1:p.Ile195Thr
XM_024450902.1:c.584T>C	XP_024306670.1:p.Ile195Thr
XR_001752597.1:n.2378T>C
XR_001752598.1:n.2378T>C
XR_001752599.1:n.2378T>C
XR_001752600.1:n.2296T>C
NM_005993.5:c.2270T>C MANE Select	NP_005984.3:p.Ile757Thr