Canonical Allele Identifier: CA401633401

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924986-A-T
• MyVariant Identifiers: chr17:g.80882862A>T (hg19) ; chr17:g.82924986A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924986A>T , CM000679.2:g.82924986A>T	GRCh38
NC_000017.10:g.80882862A>T , CM000679.1:g.80882862A>T	GRCh37
NC_000017.9:g.78476151A>T	NCBI36
NG_011721.1:g.177923A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1516A>T
ENST00000576677.6:n.1437A>T
ENST00000681983.1:n.2444A>T
ENST00000682099.1:n.1205A>T
ENST00000682213.1:c.*279A>T	ENSP00000508166.1:n.*279A>T
ENST00000682315.1:c.622A>T	ENSP00000507232.1:p.Met208Leu
ENST00000682479.1:c.2398A>T	ENSP00000508214.1:p.Met800Leu
ENST00000682610.1:n.1548A>T
ENST00000682654.1:c.*279A>T	ENSP00000507412.1:n.*279A>T
ENST00000682722.1:c.2257A>T	ENSP00000508364.1:p.Met753Leu
ENST00000683041.1:c.*279A>T	ENSP00000506994.1:n.*279A>T
ENST00000683184.1:c.*1961A>T	ENSP00000507757.1:n.*1961A>T
ENST00000683282.1:c.2224A>T	ENSP00000506913.1:p.Met742Leu
ENST00000683444.1:c.*1885A>T	ENSP00000507553.1:n.*1885A>T
ENST00000683584.1:n.1131A>T
ENST00000683821.1:c.622A>T	ENSP00000507651.1:p.Met208Leu
ENST00000683839.1:n.1762A>T
ENST00000684000.1:c.2392A>T	ENSP00000506795.1:p.Met798Leu
ENST00000684188.1:c.2119A>T	ENSP00000507153.1:p.Met707Leu
ENST00000684349.1:c.2494A>T	ENSP00000508067.1:p.Met832Leu
ENST00000684361.1:c.2308A>T	ENSP00000507364.1:p.Met770Leu
ENST00000684408.1:c.1951A>T	ENSP00000506837.1:p.Met651Leu
ENST00000684429.1:c.2236A>T	ENSP00000507224.1:p.Met746Leu
ENST00000684464.1:c.2401A>T	ENSP00000508333.1:p.Met801Leu
ENST00000684544.1:c.2227A>T	ENSP00000507337.1:p.Met743Leu
ENST00000684559.1:n.1063A>T
ENST00000684760.1:c.2575A>T	ENSP00000507696.1:p.Met859Leu
ENST00000684776.1:c.*791A>T	ENSP00000507861.1:n.*791A>T
ENST00000355528.9:c.2308A>T MANE Select	ENSP00000347719.4:p.Met770Leu
ENST00000355528.8:c.2308A>T	ENSP00000347719.4:p.Met770Leu
ENST00000539345.6:c.2308A>T	ENSP00000440671.2:p.Met770Leu
ENST00000571618.5:n.486A>T
ENST00000571796.5:n.966A>T
ENST00000574422.1:c.622A>T	ENSP00000458599.1:p.Met208Leu
ENST00000574818.5:n.366A>T
ENST00000574886.1:n.692A>T
ENST00000574975.5:c.685A>T	ENSP00000461680.1:p.Met229Leu
ENST00000576760.5:c.622A>T	ENSP00000460949.1:p.Met208Leu
NM_005993.4:c.2308A>T	NP_005984.3:p.Met770Leu
XM_005256396.3:c.2257A>T	XP_005256453.1:p.Met753Leu
XM_005256399.3:c.1024A>T	XP_005256456.1:p.Met342Leu
XM_005256400.3:c.622A>T	XP_005256457.1:p.Met208Leu
XM_005256401.3:c.622A>T	XP_005256458.1:p.Met208Leu
XM_005256402.3:c.622A>T	XP_005256459.1:p.Met208Leu
XM_005256403.3:c.622A>T	XP_005256460.1:p.Met208Leu
XM_005256404.3:c.622A>T	XP_005256461.1:p.Met208Leu
XM_006722290.2:c.2227A>T	XP_006722353.1:p.Met743Leu
XM_006722291.2:c.1012A>T	XP_006722354.1:p.Met338Leu
XM_006722292.2:c.622A>T	XP_006722355.1:p.Met208Leu
XM_011523589.1:c.1963A>T	XP_011521891.1:p.Met655Leu
XM_011523590.1:c.1951A>T	XP_011521892.1:p.Met651Leu
XM_011523591.1:c.1948A>T	XP_011521893.1:p.Met650Leu
XM_011523592.1:c.1861A>T	XP_011521894.1:p.Met621Leu
XM_011523593.1:c.1555A>T	XP_011521895.1:p.Met519Leu
XM_011523594.1:c.1036A>T	XP_011521896.1:p.Met346Leu
XM_011523595.1:c.1003A>T	XP_011521897.1:p.Met335Leu
XM_011523596.1:c.*39A>T	XP_011521898.1:n.*39A>T
XM_011523597.1:c.769A>T	XP_011521899.1:p.Met257Leu
XM_011523598.1:c.766A>T	XP_011521900.1:p.Met256Leu
XM_011523599.1:c.760A>T	XP_011521901.1:p.Met254Leu
XM_011523600.1:c.622A>T	XP_011521902.1:p.Met208Leu
XR_430033.2:n.2416A>T
XM_005256396.4:c.2257A>T	XP_005256453.1:p.Met753Leu
XM_005256399.5:c.1024A>T	XP_005256456.1:p.Met342Leu
XM_005256404.4:c.622A>T	XP_005256461.1:p.Met208Leu
XM_006722291.4:c.1012A>T	XP_006722354.1:p.Met338Leu
XM_006722292.3:c.622A>T	XP_006722355.1:p.Met208Leu
XM_011523589.2:c.1963A>T	XP_011521891.1:p.Met655Leu
XM_011523591.2:c.1948A>T	XP_011521893.1:p.Met650Leu
XM_011523593.2:c.1555A>T	XP_011521895.1:p.Met519Leu
XM_011523594.2:c.1036A>T	XP_011521896.1:p.Met346Leu
XM_011523595.3:c.1003A>T	XP_011521897.1:p.Met335Leu
XM_011523597.2:c.769A>T	XP_011521899.1:p.Met257Leu
XM_011523599.2:c.760A>T	XP_011521901.1:p.Met254Leu
XM_011523600.3:c.622A>T	XP_011521902.1:p.Met208Leu
XM_017024987.1:c.2119A>T	XP_016880476.1:p.Met707Leu
XM_017024989.1:c.670A>T	XP_016880478.1:p.Met224Leu
XM_017024990.2:c.622A>T	XP_016880479.1:p.Met208Leu
XM_024450899.1:c.622A>T	XP_024306667.1:p.Met208Leu
XM_024450900.1:c.622A>T	XP_024306668.1:p.Met208Leu
XM_024450901.1:c.622A>T	XP_024306669.1:p.Met208Leu
XM_024450902.1:c.622A>T	XP_024306670.1:p.Met208Leu
XR_001752597.1:n.2416A>T
XR_001752598.1:n.2416A>T
XR_001752599.1:n.2416A>T
XR_001752600.1:n.2334A>T
NM_005993.5:c.2308A>T MANE Select	NP_005984.3:p.Met770Leu