Canonical Allele Identifier: CA401633480

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882880T>G (hg19) ; chr17:g.82925004T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925004T>G , CM000679.2:g.82925004T>G	GRCh38
NC_000017.10:g.80882880T>G , CM000679.1:g.80882880T>G	GRCh37
NC_000017.9:g.78476169T>G	NCBI36
NG_011721.1:g.177941T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1534T>G
ENST00000576677.6:n.1455T>G
ENST00000681983.1:n.2462T>G
ENST00000682099.1:n.1223T>G
ENST00000682213.1:c.*297T>G	ENSP00000508166.1:n.*297T>G
ENST00000682315.1:c.640T>G	ENSP00000507232.1:p.Ser214Ala
ENST00000682479.1:c.2416T>G	ENSP00000508214.1:p.Ser806Ala
ENST00000682610.1:n.1566T>G
ENST00000682654.1:c.*297T>G	ENSP00000507412.1:n.*297T>G
ENST00000682722.1:c.2275T>G	ENSP00000508364.1:p.Ser759Ala
ENST00000683041.1:c.*297T>G	ENSP00000506994.1:n.*297T>G
ENST00000683184.1:c.*1979T>G	ENSP00000507757.1:n.*1979T>G
ENST00000683282.1:c.2242T>G	ENSP00000506913.1:p.Ser748Ala
ENST00000683444.1:c.*1903T>G	ENSP00000507553.1:n.*1903T>G
ENST00000683584.1:n.1149T>G
ENST00000683821.1:c.640T>G	ENSP00000507651.1:p.Ser214Ala
ENST00000683839.1:n.1780T>G
ENST00000684000.1:c.2410T>G	ENSP00000506795.1:p.Ser804Ala
ENST00000684188.1:c.2137T>G	ENSP00000507153.1:p.Ser713Ala
ENST00000684349.1:c.2512T>G	ENSP00000508067.1:p.Ser838Ala
ENST00000684361.1:c.2326T>G	ENSP00000507364.1:p.Ser776Ala
ENST00000684408.1:c.1969T>G	ENSP00000506837.1:p.Ser657Ala
ENST00000684429.1:c.2254T>G	ENSP00000507224.1:p.Ser752Ala
ENST00000684464.1:c.2419T>G	ENSP00000508333.1:p.Ser807Ala
ENST00000684544.1:c.2245T>G	ENSP00000507337.1:p.Ser749Ala
ENST00000684559.1:n.1081T>G
ENST00000684760.1:c.2593T>G	ENSP00000507696.1:p.Ser865Ala
ENST00000684776.1:c.*809T>G	ENSP00000507861.1:n.*809T>G
ENST00000355528.9:c.2326T>G MANE Select	ENSP00000347719.4:p.Ser776Ala
ENST00000355528.8:c.2326T>G	ENSP00000347719.4:p.Ser776Ala
ENST00000539345.6:c.2326T>G	ENSP00000440671.2:p.Ser776Ala
ENST00000571618.5:n.504T>G
ENST00000571796.5:n.984T>G
ENST00000574422.1:c.640T>G	ENSP00000458599.1:p.Ser214Ala
ENST00000574818.5:n.384T>G
ENST00000574886.1:n.710T>G
ENST00000574975.5:c.703T>G	ENSP00000461680.1:p.Ser235Ala
ENST00000576760.5:c.640T>G	ENSP00000460949.1:p.Ser214Ala
NM_005993.4:c.2326T>G	NP_005984.3:p.Ser776Ala
XM_005256396.3:c.2275T>G	XP_005256453.1:p.Ser759Ala
XM_005256399.3:c.1042T>G	XP_005256456.1:p.Ser348Ala
XM_005256400.3:c.640T>G	XP_005256457.1:p.Ser214Ala
XM_005256401.3:c.640T>G	XP_005256458.1:p.Ser214Ala
XM_005256402.3:c.640T>G	XP_005256459.1:p.Ser214Ala
XM_005256403.3:c.640T>G	XP_005256460.1:p.Ser214Ala
XM_005256404.3:c.640T>G	XP_005256461.1:p.Ser214Ala
XM_006722290.2:c.2245T>G	XP_006722353.1:p.Ser749Ala
XM_006722291.2:c.1030T>G	XP_006722354.1:p.Ser344Ala
XM_006722292.2:c.640T>G	XP_006722355.1:p.Ser214Ala
XM_011523589.1:c.1981T>G	XP_011521891.1:p.Ser661Ala
XM_011523590.1:c.1969T>G	XP_011521892.1:p.Ser657Ala
XM_011523591.1:c.1966T>G	XP_011521893.1:p.Ser656Ala
XM_011523592.1:c.1879T>G	XP_011521894.1:p.Ser627Ala
XM_011523593.1:c.1573T>G	XP_011521895.1:p.Ser525Ala
XM_011523594.1:c.1054T>G	XP_011521896.1:p.Ser352Ala
XM_011523595.1:c.1021T>G	XP_011521897.1:p.Ser341Ala
XM_011523596.1:c.*57T>G	XP_011521898.1:n.*57T>G
XM_011523597.1:c.787T>G	XP_011521899.1:p.Ser263Ala
XM_011523598.1:c.784T>G	XP_011521900.1:p.Ser262Ala
XM_011523599.1:c.778T>G	XP_011521901.1:p.Ser260Ala
XM_011523600.1:c.640T>G	XP_011521902.1:p.Ser214Ala
XR_430033.2:n.2434T>G
XM_005256396.4:c.2275T>G	XP_005256453.1:p.Ser759Ala
XM_005256399.5:c.1042T>G	XP_005256456.1:p.Ser348Ala
XM_005256404.4:c.640T>G	XP_005256461.1:p.Ser214Ala
XM_006722291.4:c.1030T>G	XP_006722354.1:p.Ser344Ala
XM_006722292.3:c.640T>G	XP_006722355.1:p.Ser214Ala
XM_011523589.2:c.1981T>G	XP_011521891.1:p.Ser661Ala
XM_011523591.2:c.1966T>G	XP_011521893.1:p.Ser656Ala
XM_011523593.2:c.1573T>G	XP_011521895.1:p.Ser525Ala
XM_011523594.2:c.1054T>G	XP_011521896.1:p.Ser352Ala
XM_011523595.3:c.1021T>G	XP_011521897.1:p.Ser341Ala
XM_011523597.2:c.787T>G	XP_011521899.1:p.Ser263Ala
XM_011523599.2:c.778T>G	XP_011521901.1:p.Ser260Ala
XM_011523600.3:c.640T>G	XP_011521902.1:p.Ser214Ala
XM_017024987.1:c.2137T>G	XP_016880476.1:p.Ser713Ala
XM_017024989.1:c.688T>G	XP_016880478.1:p.Ser230Ala
XM_017024990.2:c.640T>G	XP_016880479.1:p.Ser214Ala
XM_024450899.1:c.640T>G	XP_024306667.1:p.Ser214Ala
XM_024450900.1:c.640T>G	XP_024306668.1:p.Ser214Ala
XM_024450901.1:c.640T>G	XP_024306669.1:p.Ser214Ala
XM_024450902.1:c.640T>G	XP_024306670.1:p.Ser214Ala
XR_001752597.1:n.2434T>G
XR_001752598.1:n.2434T>G
XR_001752599.1:n.2434T>G
XR_001752600.1:n.2352T>G
NM_005993.5:c.2326T>G MANE Select	NP_005984.3:p.Ser776Ala