Canonical Allele Identifier: CA401633345

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882851A>T (hg19) ; chr17:g.82924975A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924975A>T , CM000679.2:g.82924975A>T	GRCh38
NC_000017.10:g.80882851A>T , CM000679.1:g.80882851A>T	GRCh37
NC_000017.9:g.78476140A>T	NCBI36
NG_011721.1:g.177912A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1505A>T
ENST00000576677.6:n.1426A>T
ENST00000681983.1:n.2433A>T
ENST00000682099.1:n.1194A>T
ENST00000682213.1:c.*268A>T	ENSP00000508166.1:n.*268A>T
ENST00000682315.1:c.611A>T	ENSP00000507232.1:p.Asn204Ile
ENST00000682479.1:c.2387A>T	ENSP00000508214.1:p.Asn796Ile
ENST00000682610.1:n.1537A>T
ENST00000682654.1:c.*268A>T	ENSP00000507412.1:n.*268A>T
ENST00000682722.1:c.2246A>T	ENSP00000508364.1:p.Asn749Ile
ENST00000683041.1:c.*268A>T	ENSP00000506994.1:n.*268A>T
ENST00000683184.1:c.*1950A>T	ENSP00000507757.1:n.*1950A>T
ENST00000683282.1:c.2213A>T	ENSP00000506913.1:p.Asn738Ile
ENST00000683444.1:c.*1874A>T	ENSP00000507553.1:n.*1874A>T
ENST00000683584.1:n.1120A>T
ENST00000683821.1:c.611A>T	ENSP00000507651.1:p.Asn204Ile
ENST00000683839.1:n.1751A>T
ENST00000684000.1:c.2381A>T	ENSP00000506795.1:p.Asn794Ile
ENST00000684188.1:c.2108A>T	ENSP00000507153.1:p.Asn703Ile
ENST00000684349.1:c.2483A>T	ENSP00000508067.1:p.Asn828Ile
ENST00000684361.1:c.2297A>T	ENSP00000507364.1:p.Asn766Ile
ENST00000684408.1:c.1940A>T	ENSP00000506837.1:p.Asn647Ile
ENST00000684429.1:c.2225A>T	ENSP00000507224.1:p.Asn742Ile
ENST00000684464.1:c.2390A>T	ENSP00000508333.1:p.Asn797Ile
ENST00000684544.1:c.2216A>T	ENSP00000507337.1:p.Asn739Ile
ENST00000684559.1:n.1052A>T
ENST00000684760.1:c.2564A>T	ENSP00000507696.1:p.Asn855Ile
ENST00000684776.1:c.*780A>T	ENSP00000507861.1:n.*780A>T
ENST00000355528.9:c.2297A>T MANE Select	ENSP00000347719.4:p.Asn766Ile
ENST00000355528.8:c.2297A>T	ENSP00000347719.4:p.Asn766Ile
ENST00000539345.6:c.2297A>T	ENSP00000440671.2:p.Asn766Ile
ENST00000571618.5:n.475A>T
ENST00000571796.5:n.955A>T
ENST00000574422.1:c.611A>T	ENSP00000458599.1:p.Asn204Ile
ENST00000574818.5:n.355A>T
ENST00000574886.1:n.681A>T
ENST00000574975.5:c.674A>T	ENSP00000461680.1:p.Asn225Ile
ENST00000576760.5:c.611A>T	ENSP00000460949.1:p.Asn204Ile
NM_005993.4:c.2297A>T	NP_005984.3:p.Asn766Ile
XM_005256396.3:c.2246A>T	XP_005256453.1:p.Asn749Ile
XM_005256399.3:c.1013A>T	XP_005256456.1:p.Asn338Ile
XM_005256400.3:c.611A>T	XP_005256457.1:p.Asn204Ile
XM_005256401.3:c.611A>T	XP_005256458.1:p.Asn204Ile
XM_005256402.3:c.611A>T	XP_005256459.1:p.Asn204Ile
XM_005256403.3:c.611A>T	XP_005256460.1:p.Asn204Ile
XM_005256404.3:c.611A>T	XP_005256461.1:p.Asn204Ile
XM_006722290.2:c.2216A>T	XP_006722353.1:p.Asn739Ile
XM_006722291.2:c.1001A>T	XP_006722354.1:p.Asn334Ile
XM_006722292.2:c.611A>T	XP_006722355.1:p.Asn204Ile
XM_011523589.1:c.1952A>T	XP_011521891.1:p.Asn651Ile
XM_011523590.1:c.1940A>T	XP_011521892.1:p.Asn647Ile
XM_011523591.1:c.1937A>T	XP_011521893.1:p.Asn646Ile
XM_011523592.1:c.1850A>T	XP_011521894.1:p.Asn617Ile
XM_011523593.1:c.1544A>T	XP_011521895.1:p.Asn515Ile
XM_011523594.1:c.1025A>T	XP_011521896.1:p.Asn342Ile
XM_011523595.1:c.992A>T	XP_011521897.1:p.Asn331Ile
XM_011523596.1:c.*28A>T	XP_011521898.1:n.*28A>T
XM_011523597.1:c.758A>T	XP_011521899.1:p.Asn253Ile
XM_011523598.1:c.755A>T	XP_011521900.1:p.Asn252Ile
XM_011523599.1:c.749A>T	XP_011521901.1:p.Asn250Ile
XM_011523600.1:c.611A>T	XP_011521902.1:p.Asn204Ile
XR_430033.2:n.2405A>T
XM_005256396.4:c.2246A>T	XP_005256453.1:p.Asn749Ile
XM_005256399.5:c.1013A>T	XP_005256456.1:p.Asn338Ile
XM_005256404.4:c.611A>T	XP_005256461.1:p.Asn204Ile
XM_006722291.4:c.1001A>T	XP_006722354.1:p.Asn334Ile
XM_006722292.3:c.611A>T	XP_006722355.1:p.Asn204Ile
XM_011523589.2:c.1952A>T	XP_011521891.1:p.Asn651Ile
XM_011523591.2:c.1937A>T	XP_011521893.1:p.Asn646Ile
XM_011523593.2:c.1544A>T	XP_011521895.1:p.Asn515Ile
XM_011523594.2:c.1025A>T	XP_011521896.1:p.Asn342Ile
XM_011523595.3:c.992A>T	XP_011521897.1:p.Asn331Ile
XM_011523597.2:c.758A>T	XP_011521899.1:p.Asn253Ile
XM_011523599.2:c.749A>T	XP_011521901.1:p.Asn250Ile
XM_011523600.3:c.611A>T	XP_011521902.1:p.Asn204Ile
XM_017024987.1:c.2108A>T	XP_016880476.1:p.Asn703Ile
XM_017024989.1:c.659A>T	XP_016880478.1:p.Asn220Ile
XM_017024990.2:c.611A>T	XP_016880479.1:p.Asn204Ile
XM_024450899.1:c.611A>T	XP_024306667.1:p.Asn204Ile
XM_024450900.1:c.611A>T	XP_024306668.1:p.Asn204Ile
XM_024450901.1:c.611A>T	XP_024306669.1:p.Asn204Ile
XM_024450902.1:c.611A>T	XP_024306670.1:p.Asn204Ile
XR_001752597.1:n.2405A>T
XR_001752598.1:n.2405A>T
XR_001752599.1:n.2405A>T
XR_001752600.1:n.2323A>T
NM_005993.5:c.2297A>T MANE Select	NP_005984.3:p.Asn766Ile