Canonical Allele Identifier: CA295296913

Gene: TBCD

Linked Data

• dbSNP Id: rs866388240
• gnomAD v4: 17-82925020-C-A
• MyVariant Identifiers: chr17:g.80882896C>A (hg19) ; chr17:g.82925020C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1550C>A
ENST00000576677.6:n.1471C>A
ENST00000681983.1:n.2478C>A
ENST00000682099.1:n.1239C>A
ENST00000682213.1:c.*313C>A	ENSP00000508166.1:n.*313C>A
ENST00000682315.1:c.656C>A	ENSP00000507232.1:p.Ala219Asp
ENST00000682479.1:c.2432C>A	ENSP00000508214.1:p.Ala811Asp
ENST00000682610.1:n.1582C>A
ENST00000682654.1:c.*313C>A	ENSP00000507412.1:n.*313C>A
ENST00000682722.1:c.2291C>A	ENSP00000508364.1:p.Ala764Asp
ENST00000683041.1:c.*313C>A	ENSP00000506994.1:n.*313C>A
ENST00000683184.1:c.*1995C>A	ENSP00000507757.1:n.*1995C>A
ENST00000683282.1:c.2258C>A	ENSP00000506913.1:p.Ala753Asp
ENST00000683444.1:c.*1919C>A	ENSP00000507553.1:n.*1919C>A
ENST00000683584.1:n.1165C>A
ENST00000683821.1:c.656C>A	ENSP00000507651.1:p.Ala219Asp
ENST00000683839.1:n.1796C>A
ENST00000684000.1:c.2426C>A	ENSP00000506795.1:p.Ala809Asp
ENST00000684188.1:c.2153C>A	ENSP00000507153.1:p.Ala718Asp
ENST00000684349.1:c.2528C>A	ENSP00000508067.1:p.Ala843Asp
ENST00000684361.1:c.2342C>A	ENSP00000507364.1:p.Ala781Asp
ENST00000684408.1:c.1985C>A	ENSP00000506837.1:p.Ala662Asp
ENST00000684429.1:c.2270C>A	ENSP00000507224.1:p.Ala757Asp
ENST00000684464.1:c.2435C>A	ENSP00000508333.1:p.Ala812Asp
ENST00000684544.1:c.2261C>A	ENSP00000507337.1:p.Ala754Asp
ENST00000684559.1:n.1097C>A
ENST00000684760.1:c.2609C>A	ENSP00000507696.1:p.Ala870Asp
ENST00000684776.1:c.*825C>A	ENSP00000507861.1:n.*825C>A
ENST00000355528.9:c.2342C>A MANE Select	ENSP00000347719.4:p.Ala781Asp
ENST00000355528.8:c.2342C>A	ENSP00000347719.4:p.Ala781Asp
ENST00000539345.6:c.2342C>A	ENSP00000440671.2:p.Ala781Asp
ENST00000571618.5:n.520C>A
ENST00000571796.5:n.1000C>A
ENST00000574422.1:c.656C>A	ENSP00000458599.1:p.Ala219Asp
ENST00000574818.5:n.400C>A
ENST00000574886.1:n.726C>A
ENST00000574975.5:c.719C>A	ENSP00000461680.1:p.Ala240Asp
ENST00000576760.5:c.656C>A	ENSP00000460949.1:p.Ala219Asp
NM_005993.4:c.2342C>A	NP_005984.3:p.Ala781Asp
XM_005256396.3:c.2291C>A	XP_005256453.1:p.Ala764Asp
XM_005256399.3:c.1058C>A	XP_005256456.1:p.Ala353Asp
XM_005256400.3:c.656C>A	XP_005256457.1:p.Ala219Asp
XM_005256401.3:c.656C>A	XP_005256458.1:p.Ala219Asp
XM_005256402.3:c.656C>A	XP_005256459.1:p.Ala219Asp
XM_005256403.3:c.656C>A	XP_005256460.1:p.Ala219Asp
XM_005256404.3:c.656C>A	XP_005256461.1:p.Ala219Asp
XM_006722290.2:c.2261C>A	XP_006722353.1:p.Ala754Asp
XM_006722291.2:c.1046C>A	XP_006722354.1:p.Ala349Asp
XM_006722292.2:c.656C>A	XP_006722355.1:p.Ala219Asp
XM_011523589.1:c.1997C>A	XP_011521891.1:p.Ala666Asp
XM_011523590.1:c.1985C>A	XP_011521892.1:p.Ala662Asp
XM_011523591.1:c.1982C>A	XP_011521893.1:p.Ala661Asp
XM_011523592.1:c.1895C>A	XP_011521894.1:p.Ala632Asp
XM_011523593.1:c.1589C>A	XP_011521895.1:p.Ala530Asp
XM_011523594.1:c.1070C>A	XP_011521896.1:p.Ala357Asp
XM_011523595.1:c.1037C>A	XP_011521897.1:p.Ala346Asp
XM_011523596.1:c.*73C>A	XP_011521898.1:n.*73C>A
XM_011523597.1:c.803C>A	XP_011521899.1:p.Ala268Asp
XM_011523598.1:c.800C>A	XP_011521900.1:p.Ala267Asp
XM_011523599.1:c.794C>A	XP_011521901.1:p.Ala265Asp
XM_011523600.1:c.656C>A	XP_011521902.1:p.Ala219Asp
XR_430033.2:n.2450C>A
XM_005256396.4:c.2291C>A	XP_005256453.1:p.Ala764Asp
XM_005256399.5:c.1058C>A	XP_005256456.1:p.Ala353Asp
XM_005256404.4:c.656C>A	XP_005256461.1:p.Ala219Asp
XM_006722291.4:c.1046C>A	XP_006722354.1:p.Ala349Asp
XM_006722292.3:c.656C>A	XP_006722355.1:p.Ala219Asp
XM_011523589.2:c.1997C>A	XP_011521891.1:p.Ala666Asp
XM_011523591.2:c.1982C>A	XP_011521893.1:p.Ala661Asp
XM_011523593.2:c.1589C>A	XP_011521895.1:p.Ala530Asp
XM_011523594.2:c.1070C>A	XP_011521896.1:p.Ala357Asp
XM_011523595.3:c.1037C>A	XP_011521897.1:p.Ala346Asp
XM_011523597.2:c.803C>A	XP_011521899.1:p.Ala268Asp
XM_011523599.2:c.794C>A	XP_011521901.1:p.Ala265Asp
XM_011523600.3:c.656C>A	XP_011521902.1:p.Ala219Asp
XM_017024987.1:c.2153C>A	XP_016880476.1:p.Ala718Asp
XM_017024989.1:c.704C>A	XP_016880478.1:p.Ala235Asp
XM_017024990.2:c.656C>A	XP_016880479.1:p.Ala219Asp
XM_024450899.1:c.656C>A	XP_024306667.1:p.Ala219Asp
XM_024450900.1:c.656C>A	XP_024306668.1:p.Ala219Asp
XM_024450901.1:c.656C>A	XP_024306669.1:p.Ala219Asp
XM_024450902.1:c.656C>A	XP_024306670.1:p.Ala219Asp
XR_001752597.1:n.2450C>A
XR_001752598.1:n.2450C>A
XR_001752599.1:n.2450C>A
XR_001752600.1:n.2368C>A
NM_005993.5:c.2342C>A MANE Select	NP_005984.3:p.Ala781Asp