Canonical Allele Identifier: CA401633464

Gene: TBCD

Linked Data

• dbSNP Id: rs1341238774
• gnomAD v2: 17-80882875-G-T
• gnomAD v4: 17-82924999-G-T
• MyVariant Identifiers: chr17:g.80882875G>T (hg19) ; chr17:g.82924999G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924999G>T , CM000679.2:g.82924999G>T	GRCh38
NC_000017.10:g.80882875G>T , CM000679.1:g.80882875G>T	GRCh37
NC_000017.9:g.78476164G>T	NCBI36
NG_011721.1:g.177936G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1529G>T
ENST00000576677.6:n.1450G>T
ENST00000681983.1:n.2457G>T
ENST00000682099.1:n.1218G>T
ENST00000682213.1:c.*292G>T	ENSP00000508166.1:n.*292G>T
ENST00000682315.1:c.635G>T	ENSP00000507232.1:p.Gly212Val
ENST00000682479.1:c.2411G>T	ENSP00000508214.1:p.Gly804Val
ENST00000682610.1:n.1561G>T
ENST00000682654.1:c.*292G>T	ENSP00000507412.1:n.*292G>T
ENST00000682722.1:c.2270G>T	ENSP00000508364.1:p.Gly757Val
ENST00000683041.1:c.*292G>T	ENSP00000506994.1:n.*292G>T
ENST00000683184.1:c.*1974G>T	ENSP00000507757.1:n.*1974G>T
ENST00000683282.1:c.2237G>T	ENSP00000506913.1:p.Gly746Val
ENST00000683444.1:c.*1898G>T	ENSP00000507553.1:n.*1898G>T
ENST00000683584.1:n.1144G>T
ENST00000683821.1:c.635G>T	ENSP00000507651.1:p.Gly212Val
ENST00000683839.1:n.1775G>T
ENST00000684000.1:c.2405G>T	ENSP00000506795.1:p.Gly802Val
ENST00000684188.1:c.2132G>T	ENSP00000507153.1:p.Gly711Val
ENST00000684349.1:c.2507G>T	ENSP00000508067.1:p.Gly836Val
ENST00000684361.1:c.2321G>T	ENSP00000507364.1:p.Gly774Val
ENST00000684408.1:c.1964G>T	ENSP00000506837.1:p.Gly655Val
ENST00000684429.1:c.2249G>T	ENSP00000507224.1:p.Gly750Val
ENST00000684464.1:c.2414G>T	ENSP00000508333.1:p.Gly805Val
ENST00000684544.1:c.2240G>T	ENSP00000507337.1:p.Gly747Val
ENST00000684559.1:n.1076G>T
ENST00000684760.1:c.2588G>T	ENSP00000507696.1:p.Gly863Val
ENST00000684776.1:c.*804G>T	ENSP00000507861.1:n.*804G>T
ENST00000355528.9:c.2321G>T MANE Select	ENSP00000347719.4:p.Gly774Val
ENST00000355528.8:c.2321G>T	ENSP00000347719.4:p.Gly774Val
ENST00000539345.6:c.2321G>T	ENSP00000440671.2:p.Gly774Val
ENST00000571618.5:n.499G>T
ENST00000571796.5:n.979G>T
ENST00000574422.1:c.635G>T	ENSP00000458599.1:p.Gly212Val
ENST00000574818.5:n.379G>T
ENST00000574886.1:n.705G>T
ENST00000574975.5:c.698G>T	ENSP00000461680.1:p.Gly233Val
ENST00000576760.5:c.635G>T	ENSP00000460949.1:p.Gly212Val
NM_005993.4:c.2321G>T	NP_005984.3:p.Gly774Val
XM_005256396.3:c.2270G>T	XP_005256453.1:p.Gly757Val
XM_005256399.3:c.1037G>T	XP_005256456.1:p.Gly346Val
XM_005256400.3:c.635G>T	XP_005256457.1:p.Gly212Val
XM_005256401.3:c.635G>T	XP_005256458.1:p.Gly212Val
XM_005256402.3:c.635G>T	XP_005256459.1:p.Gly212Val
XM_005256403.3:c.635G>T	XP_005256460.1:p.Gly212Val
XM_005256404.3:c.635G>T	XP_005256461.1:p.Gly212Val
XM_006722290.2:c.2240G>T	XP_006722353.1:p.Gly747Val
XM_006722291.2:c.1025G>T	XP_006722354.1:p.Gly342Val
XM_006722292.2:c.635G>T	XP_006722355.1:p.Gly212Val
XM_011523589.1:c.1976G>T	XP_011521891.1:p.Gly659Val
XM_011523590.1:c.1964G>T	XP_011521892.1:p.Gly655Val
XM_011523591.1:c.1961G>T	XP_011521893.1:p.Gly654Val
XM_011523592.1:c.1874G>T	XP_011521894.1:p.Gly625Val
XM_011523593.1:c.1568G>T	XP_011521895.1:p.Gly523Val
XM_011523594.1:c.1049G>T	XP_011521896.1:p.Gly350Val
XM_011523595.1:c.1016G>T	XP_011521897.1:p.Gly339Val
XM_011523596.1:c.*52G>T	XP_011521898.1:n.*52G>T
XM_011523597.1:c.782G>T	XP_011521899.1:p.Gly261Val
XM_011523598.1:c.779G>T	XP_011521900.1:p.Gly260Val
XM_011523599.1:c.773G>T	XP_011521901.1:p.Gly258Val
XM_011523600.1:c.635G>T	XP_011521902.1:p.Gly212Val
XR_430033.2:n.2429G>T
XM_005256396.4:c.2270G>T	XP_005256453.1:p.Gly757Val
XM_005256399.5:c.1037G>T	XP_005256456.1:p.Gly346Val
XM_005256404.4:c.635G>T	XP_005256461.1:p.Gly212Val
XM_006722291.4:c.1025G>T	XP_006722354.1:p.Gly342Val
XM_006722292.3:c.635G>T	XP_006722355.1:p.Gly212Val
XM_011523589.2:c.1976G>T	XP_011521891.1:p.Gly659Val
XM_011523591.2:c.1961G>T	XP_011521893.1:p.Gly654Val
XM_011523593.2:c.1568G>T	XP_011521895.1:p.Gly523Val
XM_011523594.2:c.1049G>T	XP_011521896.1:p.Gly350Val
XM_011523595.3:c.1016G>T	XP_011521897.1:p.Gly339Val
XM_011523597.2:c.782G>T	XP_011521899.1:p.Gly261Val
XM_011523599.2:c.773G>T	XP_011521901.1:p.Gly258Val
XM_011523600.3:c.635G>T	XP_011521902.1:p.Gly212Val
XM_017024987.1:c.2132G>T	XP_016880476.1:p.Gly711Val
XM_017024989.1:c.683G>T	XP_016880478.1:p.Gly228Val
XM_017024990.2:c.635G>T	XP_016880479.1:p.Gly212Val
XM_024450899.1:c.635G>T	XP_024306667.1:p.Gly212Val
XM_024450900.1:c.635G>T	XP_024306668.1:p.Gly212Val
XM_024450901.1:c.635G>T	XP_024306669.1:p.Gly212Val
XM_024450902.1:c.635G>T	XP_024306670.1:p.Gly212Val
XR_001752597.1:n.2429G>T
XR_001752598.1:n.2429G>T
XR_001752599.1:n.2429G>T
XR_001752600.1:n.2347G>T
NM_005993.5:c.2321G>T MANE Select	NP_005984.3:p.Gly774Val