Canonical Allele Identifier: CA401633550

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882896C>G (hg19) ; chr17:g.82925020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925020C>G , CM000679.2:g.82925020C>G	GRCh38
NC_000017.10:g.80882896C>G , CM000679.1:g.80882896C>G	GRCh37
NC_000017.9:g.78476185C>G	NCBI36
NG_011721.1:g.177957C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1550C>G
ENST00000576677.6:n.1471C>G
ENST00000681983.1:n.2478C>G
ENST00000682099.1:n.1239C>G
ENST00000682213.1:c.*313C>G	ENSP00000508166.1:n.*313C>G
ENST00000682315.1:c.656C>G	ENSP00000507232.1:p.Ala219Gly
ENST00000682479.1:c.2432C>G	ENSP00000508214.1:p.Ala811Gly
ENST00000682610.1:n.1582C>G
ENST00000682654.1:c.*313C>G	ENSP00000507412.1:n.*313C>G
ENST00000682722.1:c.2291C>G	ENSP00000508364.1:p.Ala764Gly
ENST00000683041.1:c.*313C>G	ENSP00000506994.1:n.*313C>G
ENST00000683184.1:c.*1995C>G	ENSP00000507757.1:n.*1995C>G
ENST00000683282.1:c.2258C>G	ENSP00000506913.1:p.Ala753Gly
ENST00000683444.1:c.*1919C>G	ENSP00000507553.1:n.*1919C>G
ENST00000683584.1:n.1165C>G
ENST00000683821.1:c.656C>G	ENSP00000507651.1:p.Ala219Gly
ENST00000683839.1:n.1796C>G
ENST00000684000.1:c.2426C>G	ENSP00000506795.1:p.Ala809Gly
ENST00000684188.1:c.2153C>G	ENSP00000507153.1:p.Ala718Gly
ENST00000684349.1:c.2528C>G	ENSP00000508067.1:p.Ala843Gly
ENST00000684361.1:c.2342C>G	ENSP00000507364.1:p.Ala781Gly
ENST00000684408.1:c.1985C>G	ENSP00000506837.1:p.Ala662Gly
ENST00000684429.1:c.2270C>G	ENSP00000507224.1:p.Ala757Gly
ENST00000684464.1:c.2435C>G	ENSP00000508333.1:p.Ala812Gly
ENST00000684544.1:c.2261C>G	ENSP00000507337.1:p.Ala754Gly
ENST00000684559.1:n.1097C>G
ENST00000684760.1:c.2609C>G	ENSP00000507696.1:p.Ala870Gly
ENST00000684776.1:c.*825C>G	ENSP00000507861.1:n.*825C>G
ENST00000355528.9:c.2342C>G MANE Select	ENSP00000347719.4:p.Ala781Gly
ENST00000355528.8:c.2342C>G	ENSP00000347719.4:p.Ala781Gly
ENST00000539345.6:c.2342C>G	ENSP00000440671.2:p.Ala781Gly
ENST00000571618.5:n.520C>G
ENST00000571796.5:n.1000C>G
ENST00000574422.1:c.656C>G	ENSP00000458599.1:p.Ala219Gly
ENST00000574818.5:n.400C>G
ENST00000574886.1:n.726C>G
ENST00000574975.5:c.719C>G	ENSP00000461680.1:p.Ala240Gly
ENST00000576760.5:c.656C>G	ENSP00000460949.1:p.Ala219Gly
NM_005993.4:c.2342C>G	NP_005984.3:p.Ala781Gly
XM_005256396.3:c.2291C>G	XP_005256453.1:p.Ala764Gly
XM_005256399.3:c.1058C>G	XP_005256456.1:p.Ala353Gly
XM_005256400.3:c.656C>G	XP_005256457.1:p.Ala219Gly
XM_005256401.3:c.656C>G	XP_005256458.1:p.Ala219Gly
XM_005256402.3:c.656C>G	XP_005256459.1:p.Ala219Gly
XM_005256403.3:c.656C>G	XP_005256460.1:p.Ala219Gly
XM_005256404.3:c.656C>G	XP_005256461.1:p.Ala219Gly
XM_006722290.2:c.2261C>G	XP_006722353.1:p.Ala754Gly
XM_006722291.2:c.1046C>G	XP_006722354.1:p.Ala349Gly
XM_006722292.2:c.656C>G	XP_006722355.1:p.Ala219Gly
XM_011523589.1:c.1997C>G	XP_011521891.1:p.Ala666Gly
XM_011523590.1:c.1985C>G	XP_011521892.1:p.Ala662Gly
XM_011523591.1:c.1982C>G	XP_011521893.1:p.Ala661Gly
XM_011523592.1:c.1895C>G	XP_011521894.1:p.Ala632Gly
XM_011523593.1:c.1589C>G	XP_011521895.1:p.Ala530Gly
XM_011523594.1:c.1070C>G	XP_011521896.1:p.Ala357Gly
XM_011523595.1:c.1037C>G	XP_011521897.1:p.Ala346Gly
XM_011523596.1:c.*73C>G	XP_011521898.1:n.*73C>G
XM_011523597.1:c.803C>G	XP_011521899.1:p.Ala268Gly
XM_011523598.1:c.800C>G	XP_011521900.1:p.Ala267Gly
XM_011523599.1:c.794C>G	XP_011521901.1:p.Ala265Gly
XM_011523600.1:c.656C>G	XP_011521902.1:p.Ala219Gly
XR_430033.2:n.2450C>G
XM_005256396.4:c.2291C>G	XP_005256453.1:p.Ala764Gly
XM_005256399.5:c.1058C>G	XP_005256456.1:p.Ala353Gly
XM_005256404.4:c.656C>G	XP_005256461.1:p.Ala219Gly
XM_006722291.4:c.1046C>G	XP_006722354.1:p.Ala349Gly
XM_006722292.3:c.656C>G	XP_006722355.1:p.Ala219Gly
XM_011523589.2:c.1997C>G	XP_011521891.1:p.Ala666Gly
XM_011523591.2:c.1982C>G	XP_011521893.1:p.Ala661Gly
XM_011523593.2:c.1589C>G	XP_011521895.1:p.Ala530Gly
XM_011523594.2:c.1070C>G	XP_011521896.1:p.Ala357Gly
XM_011523595.3:c.1037C>G	XP_011521897.1:p.Ala346Gly
XM_011523597.2:c.803C>G	XP_011521899.1:p.Ala268Gly
XM_011523599.2:c.794C>G	XP_011521901.1:p.Ala265Gly
XM_011523600.3:c.656C>G	XP_011521902.1:p.Ala219Gly
XM_017024987.1:c.2153C>G	XP_016880476.1:p.Ala718Gly
XM_017024989.1:c.704C>G	XP_016880478.1:p.Ala235Gly
XM_017024990.2:c.656C>G	XP_016880479.1:p.Ala219Gly
XM_024450899.1:c.656C>G	XP_024306667.1:p.Ala219Gly
XM_024450900.1:c.656C>G	XP_024306668.1:p.Ala219Gly
XM_024450901.1:c.656C>G	XP_024306669.1:p.Ala219Gly
XM_024450902.1:c.656C>G	XP_024306670.1:p.Ala219Gly
XR_001752597.1:n.2450C>G
XR_001752598.1:n.2450C>G
XR_001752599.1:n.2450C>G
XR_001752600.1:n.2368C>G
NM_005993.5:c.2342C>G MANE Select	NP_005984.3:p.Ala781Gly