Canonical Allele Identifier: CA502597401

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882846T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924970T>A , CM000679.2:g.82924970T>A	GRCh38
NC_000017.10:g.80882846T>A , CM000679.1:g.80882846T>A	GRCh37
NC_000017.9:g.78476135T>A	NCBI36
NG_011721.1:g.177907T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1500T>A
ENST00000576677.6:n.1421T>A
ENST00000681983.1:n.2428T>A
ENST00000682099.1:n.1189T>A
ENST00000682213.1:c.*263T>A	ENSP00000508166.1:n.*263T>A
ENST00000682315.1:c.606T>A	ENSP00000507232.1:p.Leu202=
ENST00000682479.1:c.2382T>A	ENSP00000508214.1:p.Leu794=
ENST00000682610.1:n.1532T>A
ENST00000682654.1:c.*263T>A	ENSP00000507412.1:n.*263T>A
ENST00000682722.1:c.2241T>A	ENSP00000508364.1:p.Leu747=
ENST00000683041.1:c.*263T>A	ENSP00000506994.1:n.*263T>A
ENST00000683184.1:c.*1945T>A	ENSP00000507757.1:n.*1945T>A
ENST00000683282.1:c.2208T>A	ENSP00000506913.1:p.Leu736=
ENST00000683444.1:c.*1869T>A	ENSP00000507553.1:n.*1869T>A
ENST00000683584.1:n.1115T>A
ENST00000683821.1:c.606T>A	ENSP00000507651.1:p.Leu202=
ENST00000683839.1:n.1746T>A
ENST00000684000.1:c.2376T>A	ENSP00000506795.1:p.Leu792=
ENST00000684188.1:c.2103T>A	ENSP00000507153.1:p.Leu701=
ENST00000684349.1:c.2478T>A	ENSP00000508067.1:p.Leu826=
ENST00000684361.1:c.2292T>A	ENSP00000507364.1:p.Leu764=
ENST00000684408.1:c.1935T>A	ENSP00000506837.1:p.Leu645=
ENST00000684429.1:c.2220T>A	ENSP00000507224.1:p.Leu740=
ENST00000684464.1:c.2385T>A	ENSP00000508333.1:p.Leu795=
ENST00000684544.1:c.2211T>A	ENSP00000507337.1:p.Leu737=
ENST00000684559.1:n.1047T>A
ENST00000684760.1:c.2559T>A	ENSP00000507696.1:p.Leu853=
ENST00000684776.1:c.*775T>A	ENSP00000507861.1:n.*775T>A
ENST00000355528.9:c.2292T>A MANE Select	ENSP00000347719.4:p.Leu764=
ENST00000355528.8:c.2292T>A	ENSP00000347719.4:p.Leu764=
ENST00000539345.6:c.2292T>A	ENSP00000440671.2:p.Leu764=
ENST00000571618.5:n.470T>A
ENST00000571796.5:n.950T>A
ENST00000574422.1:c.606T>A	ENSP00000458599.1:p.Leu202=
ENST00000574818.5:n.350T>A
ENST00000574886.1:n.676T>A
ENST00000574975.5:c.669T>A	ENSP00000461680.1:p.Leu223=
ENST00000576760.5:c.606T>A	ENSP00000460949.1:p.Leu202=
NM_005993.4:c.2292T>A	NP_005984.3:p.Leu764=
XM_005256396.3:c.2241T>A	XP_005256453.1:p.Leu747=
XM_005256399.3:c.1008T>A	XP_005256456.1:p.Leu336=
XM_005256400.3:c.606T>A	XP_005256457.1:p.Leu202=
XM_005256401.3:c.606T>A	XP_005256458.1:p.Leu202=
XM_005256402.3:c.606T>A	XP_005256459.1:p.Leu202=
XM_005256403.3:c.606T>A	XP_005256460.1:p.Leu202=
XM_005256404.3:c.606T>A	XP_005256461.1:p.Leu202=
XM_006722290.2:c.2211T>A	XP_006722353.1:p.Leu737=
XM_006722291.2:c.996T>A	XP_006722354.1:p.Leu332=
XM_006722292.2:c.606T>A	XP_006722355.1:p.Leu202=
XM_011523589.1:c.1947T>A	XP_011521891.1:p.Leu649=
XM_011523590.1:c.1935T>A	XP_011521892.1:p.Leu645=
XM_011523591.1:c.1932T>A	XP_011521893.1:p.Leu644=
XM_011523592.1:c.1845T>A	XP_011521894.1:p.Leu615=
XM_011523593.1:c.1539T>A	XP_011521895.1:p.Leu513=
XM_011523594.1:c.1020T>A	XP_011521896.1:p.Leu340=
XM_011523595.1:c.987T>A	XP_011521897.1:p.Leu329=
XM_011523596.1:c.*23T>A	XP_011521898.1:n.*23T>A
XM_011523597.1:c.753T>A	XP_011521899.1:p.Leu251=
XM_011523598.1:c.750T>A	XP_011521900.1:p.Leu250=
XM_011523599.1:c.744T>A	XP_011521901.1:p.Leu248=
XM_011523600.1:c.606T>A	XP_011521902.1:p.Leu202=
XR_430033.2:n.2400T>A
XM_005256396.4:c.2241T>A	XP_005256453.1:p.Leu747=
XM_005256399.5:c.1008T>A	XP_005256456.1:p.Leu336=
XM_005256404.4:c.606T>A	XP_005256461.1:p.Leu202=
XM_006722291.4:c.996T>A	XP_006722354.1:p.Leu332=
XM_006722292.3:c.606T>A	XP_006722355.1:p.Leu202=
XM_011523589.2:c.1947T>A	XP_011521891.1:p.Leu649=
XM_011523591.2:c.1932T>A	XP_011521893.1:p.Leu644=
XM_011523593.2:c.1539T>A	XP_011521895.1:p.Leu513=
XM_011523594.2:c.1020T>A	XP_011521896.1:p.Leu340=
XM_011523595.3:c.987T>A	XP_011521897.1:p.Leu329=
XM_011523597.2:c.753T>A	XP_011521899.1:p.Leu251=
XM_011523599.2:c.744T>A	XP_011521901.1:p.Leu248=
XM_011523600.3:c.606T>A	XP_011521902.1:p.Leu202=
XM_017024987.1:c.2103T>A	XP_016880476.1:p.Leu701=
XM_017024989.1:c.654T>A	XP_016880478.1:p.Leu218=
XM_017024990.2:c.606T>A	XP_016880479.1:p.Leu202=
XM_024450899.1:c.606T>A	XP_024306667.1:p.Leu202=
XM_024450900.1:c.606T>A	XP_024306668.1:p.Leu202=
XM_024450901.1:c.606T>A	XP_024306669.1:p.Leu202=
XM_024450902.1:c.606T>A	XP_024306670.1:p.Leu202=
XR_001752597.1:n.2400T>A
XR_001752598.1:n.2400T>A
XR_001752599.1:n.2400T>A
XR_001752600.1:n.2318T>A
NM_005993.5:c.2292T>A MANE Select	NP_005984.3:p.Leu764=