Canonical Allele Identifier: CA502597431

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882888C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925012C>G , CM000679.2:g.82925012C>G	GRCh38
NC_000017.10:g.80882888C>G , CM000679.1:g.80882888C>G	GRCh37
NC_000017.9:g.78476177C>G	NCBI36
NG_011721.1:g.177949C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1542C>G
ENST00000576677.6:n.1463C>G
ENST00000681983.1:n.2470C>G
ENST00000682099.1:n.1231C>G
ENST00000682213.1:c.*305C>G	ENSP00000508166.1:n.*305C>G
ENST00000682315.1:c.648C>G	ENSP00000507232.1:p.Ala216=
ENST00000682479.1:c.2424C>G	ENSP00000508214.1:p.Ala808=
ENST00000682610.1:n.1574C>G
ENST00000682654.1:c.*305C>G	ENSP00000507412.1:n.*305C>G
ENST00000682722.1:c.2283C>G	ENSP00000508364.1:p.Ala761=
ENST00000683041.1:c.*305C>G	ENSP00000506994.1:n.*305C>G
ENST00000683184.1:c.*1987C>G	ENSP00000507757.1:n.*1987C>G
ENST00000683282.1:c.2250C>G	ENSP00000506913.1:p.Ala750=
ENST00000683444.1:c.*1911C>G	ENSP00000507553.1:n.*1911C>G
ENST00000683584.1:n.1157C>G
ENST00000683821.1:c.648C>G	ENSP00000507651.1:p.Ala216=
ENST00000683839.1:n.1788C>G
ENST00000684000.1:c.2418C>G	ENSP00000506795.1:p.Ala806=
ENST00000684188.1:c.2145C>G	ENSP00000507153.1:p.Ala715=
ENST00000684349.1:c.2520C>G	ENSP00000508067.1:p.Ala840=
ENST00000684361.1:c.2334C>G	ENSP00000507364.1:p.Ala778=
ENST00000684408.1:c.1977C>G	ENSP00000506837.1:p.Ala659=
ENST00000684429.1:c.2262C>G	ENSP00000507224.1:p.Ala754=
ENST00000684464.1:c.2427C>G	ENSP00000508333.1:p.Ala809=
ENST00000684544.1:c.2253C>G	ENSP00000507337.1:p.Ala751=
ENST00000684559.1:n.1089C>G
ENST00000684760.1:c.2601C>G	ENSP00000507696.1:p.Ala867=
ENST00000684776.1:c.*817C>G	ENSP00000507861.1:n.*817C>G
ENST00000355528.9:c.2334C>G MANE Select	ENSP00000347719.4:p.Ala778=
ENST00000355528.8:c.2334C>G	ENSP00000347719.4:p.Ala778=
ENST00000539345.6:c.2334C>G	ENSP00000440671.2:p.Ala778=
ENST00000571618.5:n.512C>G
ENST00000571796.5:n.992C>G
ENST00000574422.1:c.648C>G	ENSP00000458599.1:p.Ala216=
ENST00000574818.5:n.392C>G
ENST00000574886.1:n.718C>G
ENST00000574975.5:c.711C>G	ENSP00000461680.1:p.Ala237=
ENST00000576760.5:c.648C>G	ENSP00000460949.1:p.Ala216=
NM_005993.4:c.2334C>G	NP_005984.3:p.Ala778=
XM_005256396.3:c.2283C>G	XP_005256453.1:p.Ala761=
XM_005256399.3:c.1050C>G	XP_005256456.1:p.Ala350=
XM_005256400.3:c.648C>G	XP_005256457.1:p.Ala216=
XM_005256401.3:c.648C>G	XP_005256458.1:p.Ala216=
XM_005256402.3:c.648C>G	XP_005256459.1:p.Ala216=
XM_005256403.3:c.648C>G	XP_005256460.1:p.Ala216=
XM_005256404.3:c.648C>G	XP_005256461.1:p.Ala216=
XM_006722290.2:c.2253C>G	XP_006722353.1:p.Ala751=
XM_006722291.2:c.1038C>G	XP_006722354.1:p.Ala346=
XM_006722292.2:c.648C>G	XP_006722355.1:p.Ala216=
XM_011523589.1:c.1989C>G	XP_011521891.1:p.Ala663=
XM_011523590.1:c.1977C>G	XP_011521892.1:p.Ala659=
XM_011523591.1:c.1974C>G	XP_011521893.1:p.Ala658=
XM_011523592.1:c.1887C>G	XP_011521894.1:p.Ala629=
XM_011523593.1:c.1581C>G	XP_011521895.1:p.Ala527=
XM_011523594.1:c.1062C>G	XP_011521896.1:p.Ala354=
XM_011523595.1:c.1029C>G	XP_011521897.1:p.Ala343=
XM_011523596.1:c.*65C>G	XP_011521898.1:n.*65C>G
XM_011523597.1:c.795C>G	XP_011521899.1:p.Ala265=
XM_011523598.1:c.792C>G	XP_011521900.1:p.Ala264=
XM_011523599.1:c.786C>G	XP_011521901.1:p.Ala262=
XM_011523600.1:c.648C>G	XP_011521902.1:p.Ala216=
XR_430033.2:n.2442C>G
XM_005256396.4:c.2283C>G	XP_005256453.1:p.Ala761=
XM_005256399.5:c.1050C>G	XP_005256456.1:p.Ala350=
XM_005256404.4:c.648C>G	XP_005256461.1:p.Ala216=
XM_006722291.4:c.1038C>G	XP_006722354.1:p.Ala346=
XM_006722292.3:c.648C>G	XP_006722355.1:p.Ala216=
XM_011523589.2:c.1989C>G	XP_011521891.1:p.Ala663=
XM_011523591.2:c.1974C>G	XP_011521893.1:p.Ala658=
XM_011523593.2:c.1581C>G	XP_011521895.1:p.Ala527=
XM_011523594.2:c.1062C>G	XP_011521896.1:p.Ala354=
XM_011523595.3:c.1029C>G	XP_011521897.1:p.Ala343=
XM_011523597.2:c.795C>G	XP_011521899.1:p.Ala265=
XM_011523599.2:c.786C>G	XP_011521901.1:p.Ala262=
XM_011523600.3:c.648C>G	XP_011521902.1:p.Ala216=
XM_017024987.1:c.2145C>G	XP_016880476.1:p.Ala715=
XM_017024989.1:c.696C>G	XP_016880478.1:p.Ala232=
XM_017024990.2:c.648C>G	XP_016880479.1:p.Ala216=
XM_024450899.1:c.648C>G	XP_024306667.1:p.Ala216=
XM_024450900.1:c.648C>G	XP_024306668.1:p.Ala216=
XM_024450901.1:c.648C>G	XP_024306669.1:p.Ala216=
XM_024450902.1:c.648C>G	XP_024306670.1:p.Ala216=
XR_001752597.1:n.2442C>G
XR_001752598.1:n.2442C>G
XR_001752599.1:n.2442C>G
XR_001752600.1:n.2360C>G
NM_005993.5:c.2334C>G MANE Select	NP_005984.3:p.Ala778=