Canonical Allele Identifier: CA401633274

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882826A>C (hg19) ; chr17:g.82924950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924950A>C , CM000679.2:g.82924950A>C	GRCh38
NC_000017.10:g.80882826A>C , CM000679.1:g.80882826A>C	GRCh37
NC_000017.9:g.78476115A>C	NCBI36
NG_011721.1:g.177887A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1480A>C
ENST00000576677.6:n.1401A>C
ENST00000681983.1:n.2408A>C
ENST00000682099.1:n.1169A>C
ENST00000682213.1:c.*243A>C	ENSP00000508166.1:n.*243A>C
ENST00000682315.1:c.586A>C	ENSP00000507232.1:p.Thr196Pro
ENST00000682479.1:c.2362A>C	ENSP00000508214.1:p.Thr788Pro
ENST00000682610.1:n.1512A>C
ENST00000682654.1:c.*243A>C	ENSP00000507412.1:n.*243A>C
ENST00000682722.1:c.2221A>C	ENSP00000508364.1:p.Thr741Pro
ENST00000683041.1:c.*243A>C	ENSP00000506994.1:n.*243A>C
ENST00000683184.1:c.*1925A>C	ENSP00000507757.1:n.*1925A>C
ENST00000683282.1:c.2188A>C	ENSP00000506913.1:p.Thr730Pro
ENST00000683444.1:c.*1849A>C	ENSP00000507553.1:n.*1849A>C
ENST00000683584.1:n.1095A>C
ENST00000683821.1:c.586A>C	ENSP00000507651.1:p.Thr196Pro
ENST00000683839.1:n.1726A>C
ENST00000684000.1:c.2356A>C	ENSP00000506795.1:p.Thr786Pro
ENST00000684188.1:c.2083A>C	ENSP00000507153.1:p.Thr695Pro
ENST00000684349.1:c.2458A>C	ENSP00000508067.1:p.Thr820Pro
ENST00000684361.1:c.2272A>C	ENSP00000507364.1:p.Thr758Pro
ENST00000684408.1:c.1915A>C	ENSP00000506837.1:p.Thr639Pro
ENST00000684429.1:c.2200A>C	ENSP00000507224.1:p.Thr734Pro
ENST00000684464.1:c.2365A>C	ENSP00000508333.1:p.Thr789Pro
ENST00000684544.1:c.2191A>C	ENSP00000507337.1:p.Thr731Pro
ENST00000684559.1:n.1027A>C
ENST00000684760.1:c.2539A>C	ENSP00000507696.1:p.Thr847Pro
ENST00000684776.1:c.*755A>C	ENSP00000507861.1:n.*755A>C
ENST00000355528.9:c.2272A>C MANE Select	ENSP00000347719.4:p.Thr758Pro
ENST00000355528.8:c.2272A>C	ENSP00000347719.4:p.Thr758Pro
ENST00000539345.6:c.2272A>C	ENSP00000440671.2:p.Thr758Pro
ENST00000571618.5:n.450A>C
ENST00000571796.5:n.930A>C
ENST00000574422.1:c.586A>C	ENSP00000458599.1:p.Thr196Pro
ENST00000574818.5:n.330A>C
ENST00000574886.1:n.656A>C
ENST00000574975.5:c.649A>C	ENSP00000461680.1:p.Thr217Pro
ENST00000576760.5:c.586A>C	ENSP00000460949.1:p.Thr196Pro
NM_005993.4:c.2272A>C	NP_005984.3:p.Thr758Pro
XM_005256396.3:c.2221A>C	XP_005256453.1:p.Thr741Pro
XM_005256399.3:c.988A>C	XP_005256456.1:p.Thr330Pro
XM_005256400.3:c.586A>C	XP_005256457.1:p.Thr196Pro
XM_005256401.3:c.586A>C	XP_005256458.1:p.Thr196Pro
XM_005256402.3:c.586A>C	XP_005256459.1:p.Thr196Pro
XM_005256403.3:c.586A>C	XP_005256460.1:p.Thr196Pro
XM_005256404.3:c.586A>C	XP_005256461.1:p.Thr196Pro
XM_006722290.2:c.2191A>C	XP_006722353.1:p.Thr731Pro
XM_006722291.2:c.976A>C	XP_006722354.1:p.Thr326Pro
XM_006722292.2:c.586A>C	XP_006722355.1:p.Thr196Pro
XM_011523589.1:c.1927A>C	XP_011521891.1:p.Thr643Pro
XM_011523590.1:c.1915A>C	XP_011521892.1:p.Thr639Pro
XM_011523591.1:c.1912A>C	XP_011521893.1:p.Thr638Pro
XM_011523592.1:c.1825A>C	XP_011521894.1:p.Thr609Pro
XM_011523593.1:c.1519A>C	XP_011521895.1:p.Thr507Pro
XM_011523594.1:c.1000A>C	XP_011521896.1:p.Thr334Pro
XM_011523595.1:c.967A>C	XP_011521897.1:p.Thr323Pro
XM_011523596.1:c.*3A>C	XP_011521898.1:n.*3A>C
XM_011523597.1:c.733A>C	XP_011521899.1:p.Thr245Pro
XM_011523598.1:c.730A>C	XP_011521900.1:p.Thr244Pro
XM_011523599.1:c.724A>C	XP_011521901.1:p.Thr242Pro
XM_011523600.1:c.586A>C	XP_011521902.1:p.Thr196Pro
XR_430033.2:n.2380A>C
XM_005256396.4:c.2221A>C	XP_005256453.1:p.Thr741Pro
XM_005256399.5:c.988A>C	XP_005256456.1:p.Thr330Pro
XM_005256404.4:c.586A>C	XP_005256461.1:p.Thr196Pro
XM_006722291.4:c.976A>C	XP_006722354.1:p.Thr326Pro
XM_006722292.3:c.586A>C	XP_006722355.1:p.Thr196Pro
XM_011523589.2:c.1927A>C	XP_011521891.1:p.Thr643Pro
XM_011523591.2:c.1912A>C	XP_011521893.1:p.Thr638Pro
XM_011523593.2:c.1519A>C	XP_011521895.1:p.Thr507Pro
XM_011523594.2:c.1000A>C	XP_011521896.1:p.Thr334Pro
XM_011523595.3:c.967A>C	XP_011521897.1:p.Thr323Pro
XM_011523597.2:c.733A>C	XP_011521899.1:p.Thr245Pro
XM_011523599.2:c.724A>C	XP_011521901.1:p.Thr242Pro
XM_011523600.3:c.586A>C	XP_011521902.1:p.Thr196Pro
XM_017024987.1:c.2083A>C	XP_016880476.1:p.Thr695Pro
XM_017024989.1:c.634A>C	XP_016880478.1:p.Thr212Pro
XM_017024990.2:c.586A>C	XP_016880479.1:p.Thr196Pro
XM_024450899.1:c.586A>C	XP_024306667.1:p.Thr196Pro
XM_024450900.1:c.586A>C	XP_024306668.1:p.Thr196Pro
XM_024450901.1:c.586A>C	XP_024306669.1:p.Thr196Pro
XM_024450902.1:c.586A>C	XP_024306670.1:p.Thr196Pro
XR_001752597.1:n.2380A>C
XR_001752598.1:n.2380A>C
XR_001752599.1:n.2380A>C
XR_001752600.1:n.2298A>C
NM_005993.5:c.2272A>C MANE Select	NP_005984.3:p.Thr758Pro