Canonical Allele Identifier: CA401633408

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882864G>C (hg19) ; chr17:g.82924988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924988G>C , CM000679.2:g.82924988G>C	GRCh38
NC_000017.10:g.80882864G>C , CM000679.1:g.80882864G>C	GRCh37
NC_000017.9:g.78476153G>C	NCBI36
NG_011721.1:g.177925G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1518G>C
ENST00000576677.6:n.1439G>C
ENST00000681983.1:n.2446G>C
ENST00000682099.1:n.1207G>C
ENST00000682213.1:c.*281G>C	ENSP00000508166.1:n.*281G>C
ENST00000682315.1:c.624G>C	ENSP00000507232.1:p.Met208Ile
ENST00000682479.1:c.2400G>C	ENSP00000508214.1:p.Met800Ile
ENST00000682610.1:n.1550G>C
ENST00000682654.1:c.*281G>C	ENSP00000507412.1:n.*281G>C
ENST00000682722.1:c.2259G>C	ENSP00000508364.1:p.Met753Ile
ENST00000683041.1:c.*281G>C	ENSP00000506994.1:n.*281G>C
ENST00000683184.1:c.*1963G>C	ENSP00000507757.1:n.*1963G>C
ENST00000683282.1:c.2226G>C	ENSP00000506913.1:p.Met742Ile
ENST00000683444.1:c.*1887G>C	ENSP00000507553.1:n.*1887G>C
ENST00000683584.1:n.1133G>C
ENST00000683821.1:c.624G>C	ENSP00000507651.1:p.Met208Ile
ENST00000683839.1:n.1764G>C
ENST00000684000.1:c.2394G>C	ENSP00000506795.1:p.Met798Ile
ENST00000684188.1:c.2121G>C	ENSP00000507153.1:p.Met707Ile
ENST00000684349.1:c.2496G>C	ENSP00000508067.1:p.Met832Ile
ENST00000684361.1:c.2310G>C	ENSP00000507364.1:p.Met770Ile
ENST00000684408.1:c.1953G>C	ENSP00000506837.1:p.Met651Ile
ENST00000684429.1:c.2238G>C	ENSP00000507224.1:p.Met746Ile
ENST00000684464.1:c.2403G>C	ENSP00000508333.1:p.Met801Ile
ENST00000684544.1:c.2229G>C	ENSP00000507337.1:p.Met743Ile
ENST00000684559.1:n.1065G>C
ENST00000684760.1:c.2577G>C	ENSP00000507696.1:p.Met859Ile
ENST00000684776.1:c.*793G>C	ENSP00000507861.1:n.*793G>C
ENST00000355528.9:c.2310G>C MANE Select	ENSP00000347719.4:p.Met770Ile
ENST00000355528.8:c.2310G>C	ENSP00000347719.4:p.Met770Ile
ENST00000539345.6:c.2310G>C	ENSP00000440671.2:p.Met770Ile
ENST00000571618.5:n.488G>C
ENST00000571796.5:n.968G>C
ENST00000574422.1:c.624G>C	ENSP00000458599.1:p.Met208Ile
ENST00000574818.5:n.368G>C
ENST00000574886.1:n.694G>C
ENST00000574975.5:c.687G>C	ENSP00000461680.1:p.Met229Ile
ENST00000576760.5:c.624G>C	ENSP00000460949.1:p.Met208Ile
NM_005993.4:c.2310G>C	NP_005984.3:p.Met770Ile
XM_005256396.3:c.2259G>C	XP_005256453.1:p.Met753Ile
XM_005256399.3:c.1026G>C	XP_005256456.1:p.Met342Ile
XM_005256400.3:c.624G>C	XP_005256457.1:p.Met208Ile
XM_005256401.3:c.624G>C	XP_005256458.1:p.Met208Ile
XM_005256402.3:c.624G>C	XP_005256459.1:p.Met208Ile
XM_005256403.3:c.624G>C	XP_005256460.1:p.Met208Ile
XM_005256404.3:c.624G>C	XP_005256461.1:p.Met208Ile
XM_006722290.2:c.2229G>C	XP_006722353.1:p.Met743Ile
XM_006722291.2:c.1014G>C	XP_006722354.1:p.Met338Ile
XM_006722292.2:c.624G>C	XP_006722355.1:p.Met208Ile
XM_011523589.1:c.1965G>C	XP_011521891.1:p.Met655Ile
XM_011523590.1:c.1953G>C	XP_011521892.1:p.Met651Ile
XM_011523591.1:c.1950G>C	XP_011521893.1:p.Met650Ile
XM_011523592.1:c.1863G>C	XP_011521894.1:p.Met621Ile
XM_011523593.1:c.1557G>C	XP_011521895.1:p.Met519Ile
XM_011523594.1:c.1038G>C	XP_011521896.1:p.Met346Ile
XM_011523595.1:c.1005G>C	XP_011521897.1:p.Met335Ile
XM_011523596.1:c.*41G>C	XP_011521898.1:n.*41G>C
XM_011523597.1:c.771G>C	XP_011521899.1:p.Met257Ile
XM_011523598.1:c.768G>C	XP_011521900.1:p.Met256Ile
XM_011523599.1:c.762G>C	XP_011521901.1:p.Met254Ile
XM_011523600.1:c.624G>C	XP_011521902.1:p.Met208Ile
XR_430033.2:n.2418G>C
XM_005256396.4:c.2259G>C	XP_005256453.1:p.Met753Ile
XM_005256399.5:c.1026G>C	XP_005256456.1:p.Met342Ile
XM_005256404.4:c.624G>C	XP_005256461.1:p.Met208Ile
XM_006722291.4:c.1014G>C	XP_006722354.1:p.Met338Ile
XM_006722292.3:c.624G>C	XP_006722355.1:p.Met208Ile
XM_011523589.2:c.1965G>C	XP_011521891.1:p.Met655Ile
XM_011523591.2:c.1950G>C	XP_011521893.1:p.Met650Ile
XM_011523593.2:c.1557G>C	XP_011521895.1:p.Met519Ile
XM_011523594.2:c.1038G>C	XP_011521896.1:p.Met346Ile
XM_011523595.3:c.1005G>C	XP_011521897.1:p.Met335Ile
XM_011523597.2:c.771G>C	XP_011521899.1:p.Met257Ile
XM_011523599.2:c.762G>C	XP_011521901.1:p.Met254Ile
XM_011523600.3:c.624G>C	XP_011521902.1:p.Met208Ile
XM_017024987.1:c.2121G>C	XP_016880476.1:p.Met707Ile
XM_017024989.1:c.672G>C	XP_016880478.1:p.Met224Ile
XM_017024990.2:c.624G>C	XP_016880479.1:p.Met208Ile
XM_024450899.1:c.624G>C	XP_024306667.1:p.Met208Ile
XM_024450900.1:c.624G>C	XP_024306668.1:p.Met208Ile
XM_024450901.1:c.624G>C	XP_024306669.1:p.Met208Ile
XM_024450902.1:c.624G>C	XP_024306670.1:p.Met208Ile
XR_001752597.1:n.2418G>C
XR_001752598.1:n.2418G>C
XR_001752599.1:n.2418G>C
XR_001752600.1:n.2336G>C
NM_005993.5:c.2310G>C MANE Select	NP_005984.3:p.Met770Ile