Canonical Allele Identifier: CA401633311

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924966-A-G
• COSMIC: COSM5055908 ; COSM5055909
• MyVariant Identifiers: chr17:g.80882842A>G (hg19) ; chr17:g.82924966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924966A>G , CM000679.2:g.82924966A>G	GRCh38
NC_000017.10:g.80882842A>G , CM000679.1:g.80882842A>G	GRCh37
NC_000017.9:g.78476131A>G	NCBI36
NG_011721.1:g.177903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1496A>G
ENST00000576677.6:n.1417A>G
ENST00000681983.1:n.2424A>G
ENST00000682099.1:n.1185A>G
ENST00000682213.1:c.*259A>G	ENSP00000508166.1:n.*259A>G
ENST00000682315.1:c.602A>G	ENSP00000507232.1:p.Glu201Gly
ENST00000682479.1:c.2378A>G	ENSP00000508214.1:p.Glu793Gly
ENST00000682610.1:n.1528A>G
ENST00000682654.1:c.*259A>G	ENSP00000507412.1:n.*259A>G
ENST00000682722.1:c.2237A>G	ENSP00000508364.1:p.Glu746Gly
ENST00000683041.1:c.*259A>G	ENSP00000506994.1:n.*259A>G
ENST00000683184.1:c.*1941A>G	ENSP00000507757.1:n.*1941A>G
ENST00000683282.1:c.2204A>G	ENSP00000506913.1:p.Glu735Gly
ENST00000683444.1:c.*1865A>G	ENSP00000507553.1:n.*1865A>G
ENST00000683584.1:n.1111A>G
ENST00000683821.1:c.602A>G	ENSP00000507651.1:p.Glu201Gly
ENST00000683839.1:n.1742A>G
ENST00000684000.1:c.2372A>G	ENSP00000506795.1:p.Glu791Gly
ENST00000684188.1:c.2099A>G	ENSP00000507153.1:p.Glu700Gly
ENST00000684349.1:c.2474A>G	ENSP00000508067.1:p.Glu825Gly
ENST00000684361.1:c.2288A>G	ENSP00000507364.1:p.Glu763Gly
ENST00000684408.1:c.1931A>G	ENSP00000506837.1:p.Glu644Gly
ENST00000684429.1:c.2216A>G	ENSP00000507224.1:p.Glu739Gly
ENST00000684464.1:c.2381A>G	ENSP00000508333.1:p.Glu794Gly
ENST00000684544.1:c.2207A>G	ENSP00000507337.1:p.Glu736Gly
ENST00000684559.1:n.1043A>G
ENST00000684760.1:c.2555A>G	ENSP00000507696.1:p.Glu852Gly
ENST00000684776.1:c.*771A>G	ENSP00000507861.1:n.*771A>G
ENST00000355528.9:c.2288A>G MANE Select	ENSP00000347719.4:p.Glu763Gly
ENST00000355528.8:c.2288A>G	ENSP00000347719.4:p.Glu763Gly
ENST00000539345.6:c.2288A>G	ENSP00000440671.2:p.Glu763Gly
ENST00000571618.5:n.466A>G
ENST00000571796.5:n.946A>G
ENST00000574422.1:c.602A>G	ENSP00000458599.1:p.Glu201Gly
ENST00000574818.5:n.346A>G
ENST00000574886.1:n.672A>G
ENST00000574975.5:c.665A>G	ENSP00000461680.1:p.Glu222Gly
ENST00000576760.5:c.602A>G	ENSP00000460949.1:p.Glu201Gly
NM_005993.4:c.2288A>G	NP_005984.3:p.Glu763Gly
XM_005256396.3:c.2237A>G	XP_005256453.1:p.Glu746Gly
XM_005256399.3:c.1004A>G	XP_005256456.1:p.Glu335Gly
XM_005256400.3:c.602A>G	XP_005256457.1:p.Glu201Gly
XM_005256401.3:c.602A>G	XP_005256458.1:p.Glu201Gly
XM_005256402.3:c.602A>G	XP_005256459.1:p.Glu201Gly
XM_005256403.3:c.602A>G	XP_005256460.1:p.Glu201Gly
XM_005256404.3:c.602A>G	XP_005256461.1:p.Glu201Gly
XM_006722290.2:c.2207A>G	XP_006722353.1:p.Glu736Gly
XM_006722291.2:c.992A>G	XP_006722354.1:p.Glu331Gly
XM_006722292.2:c.602A>G	XP_006722355.1:p.Glu201Gly
XM_011523589.1:c.1943A>G	XP_011521891.1:p.Glu648Gly
XM_011523590.1:c.1931A>G	XP_011521892.1:p.Glu644Gly
XM_011523591.1:c.1928A>G	XP_011521893.1:p.Glu643Gly
XM_011523592.1:c.1841A>G	XP_011521894.1:p.Glu614Gly
XM_011523593.1:c.1535A>G	XP_011521895.1:p.Glu512Gly
XM_011523594.1:c.1016A>G	XP_011521896.1:p.Glu339Gly
XM_011523595.1:c.983A>G	XP_011521897.1:p.Glu328Gly
XM_011523596.1:c.*19A>G	XP_011521898.1:n.*19A>G
XM_011523597.1:c.749A>G	XP_011521899.1:p.Glu250Gly
XM_011523598.1:c.746A>G	XP_011521900.1:p.Glu249Gly
XM_011523599.1:c.740A>G	XP_011521901.1:p.Glu247Gly
XM_011523600.1:c.602A>G	XP_011521902.1:p.Glu201Gly
XR_430033.2:n.2396A>G
XM_005256396.4:c.2237A>G	XP_005256453.1:p.Glu746Gly
XM_005256399.5:c.1004A>G	XP_005256456.1:p.Glu335Gly
XM_005256404.4:c.602A>G	XP_005256461.1:p.Glu201Gly
XM_006722291.4:c.992A>G	XP_006722354.1:p.Glu331Gly
XM_006722292.3:c.602A>G	XP_006722355.1:p.Glu201Gly
XM_011523589.2:c.1943A>G	XP_011521891.1:p.Glu648Gly
XM_011523591.2:c.1928A>G	XP_011521893.1:p.Glu643Gly
XM_011523593.2:c.1535A>G	XP_011521895.1:p.Glu512Gly
XM_011523594.2:c.1016A>G	XP_011521896.1:p.Glu339Gly
XM_011523595.3:c.983A>G	XP_011521897.1:p.Glu328Gly
XM_011523597.2:c.749A>G	XP_011521899.1:p.Glu250Gly
XM_011523599.2:c.740A>G	XP_011521901.1:p.Glu247Gly
XM_011523600.3:c.602A>G	XP_011521902.1:p.Glu201Gly
XM_017024987.1:c.2099A>G	XP_016880476.1:p.Glu700Gly
XM_017024989.1:c.650A>G	XP_016880478.1:p.Glu217Gly
XM_017024990.2:c.602A>G	XP_016880479.1:p.Glu201Gly
XM_024450899.1:c.602A>G	XP_024306667.1:p.Glu201Gly
XM_024450900.1:c.602A>G	XP_024306668.1:p.Glu201Gly
XM_024450901.1:c.602A>G	XP_024306669.1:p.Glu201Gly
XM_024450902.1:c.602A>G	XP_024306670.1:p.Glu201Gly
XR_001752597.1:n.2396A>G
XR_001752598.1:n.2396A>G
XR_001752599.1:n.2396A>G
XR_001752600.1:n.2314A>G
NM_005993.5:c.2288A>G MANE Select	NP_005984.3:p.Glu763Gly