Canonical Allele Identifier: CA502597405

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924973-G-A
• MyVariant Identifiers: chr17:g.80882849G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924973G>A , CM000679.2:g.82924973G>A	GRCh38
NC_000017.10:g.80882849G>A , CM000679.1:g.80882849G>A	GRCh37
NC_000017.9:g.78476138G>A	NCBI36
NG_011721.1:g.177910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1503G>A
ENST00000576677.6:n.1424G>A
ENST00000681983.1:n.2431G>A
ENST00000682099.1:n.1192G>A
ENST00000682213.1:c.*266G>A	ENSP00000508166.1:n.*266G>A
ENST00000682315.1:c.609G>A	ENSP00000507232.1:p.Arg203=
ENST00000682479.1:c.2385G>A	ENSP00000508214.1:p.Arg795=
ENST00000682610.1:n.1535G>A
ENST00000682654.1:c.*266G>A	ENSP00000507412.1:n.*266G>A
ENST00000682722.1:c.2244G>A	ENSP00000508364.1:p.Arg748=
ENST00000683041.1:c.*266G>A	ENSP00000506994.1:n.*266G>A
ENST00000683184.1:c.*1948G>A	ENSP00000507757.1:n.*1948G>A
ENST00000683282.1:c.2211G>A	ENSP00000506913.1:p.Arg737=
ENST00000683444.1:c.*1872G>A	ENSP00000507553.1:n.*1872G>A
ENST00000683584.1:n.1118G>A
ENST00000683821.1:c.609G>A	ENSP00000507651.1:p.Arg203=
ENST00000683839.1:n.1749G>A
ENST00000684000.1:c.2379G>A	ENSP00000506795.1:p.Arg793=
ENST00000684188.1:c.2106G>A	ENSP00000507153.1:p.Arg702=
ENST00000684349.1:c.2481G>A	ENSP00000508067.1:p.Arg827=
ENST00000684361.1:c.2295G>A	ENSP00000507364.1:p.Arg765=
ENST00000684408.1:c.1938G>A	ENSP00000506837.1:p.Arg646=
ENST00000684429.1:c.2223G>A	ENSP00000507224.1:p.Arg741=
ENST00000684464.1:c.2388G>A	ENSP00000508333.1:p.Arg796=
ENST00000684544.1:c.2214G>A	ENSP00000507337.1:p.Arg738=
ENST00000684559.1:n.1050G>A
ENST00000684760.1:c.2562G>A	ENSP00000507696.1:p.Arg854=
ENST00000684776.1:c.*778G>A	ENSP00000507861.1:n.*778G>A
ENST00000355528.9:c.2295G>A MANE Select	ENSP00000347719.4:p.Arg765=
ENST00000355528.8:c.2295G>A	ENSP00000347719.4:p.Arg765=
ENST00000539345.6:c.2295G>A	ENSP00000440671.2:p.Arg765=
ENST00000571618.5:n.473G>A
ENST00000571796.5:n.953G>A
ENST00000574422.1:c.609G>A	ENSP00000458599.1:p.Arg203=
ENST00000574818.5:n.353G>A
ENST00000574886.1:n.679G>A
ENST00000574975.5:c.672G>A	ENSP00000461680.1:p.Arg224=
ENST00000576760.5:c.609G>A	ENSP00000460949.1:p.Arg203=
NM_005993.4:c.2295G>A	NP_005984.3:p.Arg765=
XM_005256396.3:c.2244G>A	XP_005256453.1:p.Arg748=
XM_005256399.3:c.1011G>A	XP_005256456.1:p.Arg337=
XM_005256400.3:c.609G>A	XP_005256457.1:p.Arg203=
XM_005256401.3:c.609G>A	XP_005256458.1:p.Arg203=
XM_005256402.3:c.609G>A	XP_005256459.1:p.Arg203=
XM_005256403.3:c.609G>A	XP_005256460.1:p.Arg203=
XM_005256404.3:c.609G>A	XP_005256461.1:p.Arg203=
XM_006722290.2:c.2214G>A	XP_006722353.1:p.Arg738=
XM_006722291.2:c.999G>A	XP_006722354.1:p.Arg333=
XM_006722292.2:c.609G>A	XP_006722355.1:p.Arg203=
XM_011523589.1:c.1950G>A	XP_011521891.1:p.Arg650=
XM_011523590.1:c.1938G>A	XP_011521892.1:p.Arg646=
XM_011523591.1:c.1935G>A	XP_011521893.1:p.Arg645=
XM_011523592.1:c.1848G>A	XP_011521894.1:p.Arg616=
XM_011523593.1:c.1542G>A	XP_011521895.1:p.Arg514=
XM_011523594.1:c.1023G>A	XP_011521896.1:p.Arg341=
XM_011523595.1:c.990G>A	XP_011521897.1:p.Arg330=
XM_011523596.1:c.*26G>A	XP_011521898.1:n.*26G>A
XM_011523597.1:c.756G>A	XP_011521899.1:p.Arg252=
XM_011523598.1:c.753G>A	XP_011521900.1:p.Arg251=
XM_011523599.1:c.747G>A	XP_011521901.1:p.Arg249=
XM_011523600.1:c.609G>A	XP_011521902.1:p.Arg203=
XR_430033.2:n.2403G>A
XM_005256396.4:c.2244G>A	XP_005256453.1:p.Arg748=
XM_005256399.5:c.1011G>A	XP_005256456.1:p.Arg337=
XM_005256404.4:c.609G>A	XP_005256461.1:p.Arg203=
XM_006722291.4:c.999G>A	XP_006722354.1:p.Arg333=
XM_006722292.3:c.609G>A	XP_006722355.1:p.Arg203=
XM_011523589.2:c.1950G>A	XP_011521891.1:p.Arg650=
XM_011523591.2:c.1935G>A	XP_011521893.1:p.Arg645=
XM_011523593.2:c.1542G>A	XP_011521895.1:p.Arg514=
XM_011523594.2:c.1023G>A	XP_011521896.1:p.Arg341=
XM_011523595.3:c.990G>A	XP_011521897.1:p.Arg330=
XM_011523597.2:c.756G>A	XP_011521899.1:p.Arg252=
XM_011523599.2:c.747G>A	XP_011521901.1:p.Arg249=
XM_011523600.3:c.609G>A	XP_011521902.1:p.Arg203=
XM_017024987.1:c.2106G>A	XP_016880476.1:p.Arg702=
XM_017024989.1:c.657G>A	XP_016880478.1:p.Arg219=
XM_017024990.2:c.609G>A	XP_016880479.1:p.Arg203=
XM_024450899.1:c.609G>A	XP_024306667.1:p.Arg203=
XM_024450900.1:c.609G>A	XP_024306668.1:p.Arg203=
XM_024450901.1:c.609G>A	XP_024306669.1:p.Arg203=
XM_024450902.1:c.609G>A	XP_024306670.1:p.Arg203=
XR_001752597.1:n.2403G>A
XR_001752598.1:n.2403G>A
XR_001752599.1:n.2403G>A
XR_001752600.1:n.2321G>A
NM_005993.5:c.2295G>A MANE Select	NP_005984.3:p.Arg765=