Canonical Allele Identifier: CA401633686

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882931C>G (hg19) ; chr17:g.82925055C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925055C>G , CM000679.2:g.82925055C>G	GRCh38
NC_000017.10:g.80882931C>G , CM000679.1:g.80882931C>G	GRCh37
NC_000017.9:g.78476220C>G	NCBI36
NG_011721.1:g.177992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1585C>G
ENST00000576677.6:n.1506C>G
ENST00000681983.1:n.2513C>G
ENST00000682099.1:n.1274C>G
ENST00000682213.1:c.*348C>G	ENSP00000508166.1:n.*348C>G
ENST00000682315.1:c.691C>G	ENSP00000507232.1:p.Gln231Glu
ENST00000682479.1:c.2467C>G	ENSP00000508214.1:p.Gln823Glu
ENST00000682610.1:n.1617C>G
ENST00000682654.1:c.*348C>G	ENSP00000507412.1:n.*348C>G
ENST00000682722.1:c.2326C>G	ENSP00000508364.1:p.Gln776Glu
ENST00000683041.1:c.*348C>G	ENSP00000506994.1:n.*348C>G
ENST00000683184.1:c.*2030C>G	ENSP00000507757.1:n.*2030C>G
ENST00000683282.1:c.2293C>G	ENSP00000506913.1:p.Gln765Glu
ENST00000683444.1:c.*1954C>G	ENSP00000507553.1:n.*1954C>G
ENST00000683584.1:n.1200C>G
ENST00000683821.1:c.691C>G	ENSP00000507651.1:p.Gln231Glu
ENST00000683839.1:n.1831C>G
ENST00000684000.1:c.2461C>G	ENSP00000506795.1:p.Gln821Glu
ENST00000684188.1:c.2188C>G	ENSP00000507153.1:p.Gln730Glu
ENST00000684349.1:c.2563C>G	ENSP00000508067.1:p.Gln855Glu
ENST00000684361.1:c.2377C>G	ENSP00000507364.1:p.Gln793Glu
ENST00000684408.1:c.2020C>G	ENSP00000506837.1:p.Gln674Glu
ENST00000684429.1:c.2305C>G	ENSP00000507224.1:p.Gln769Glu
ENST00000684464.1:c.2470C>G	ENSP00000508333.1:p.Gln824Glu
ENST00000684544.1:c.2296C>G	ENSP00000507337.1:p.Gln766Glu
ENST00000684559.1:n.1132C>G
ENST00000684760.1:c.2644C>G	ENSP00000507696.1:p.Gln882Glu
ENST00000684776.1:c.*860C>G	ENSP00000507861.1:n.*860C>G
ENST00000355528.9:c.2377C>G MANE Select	ENSP00000347719.4:p.Gln793Glu
ENST00000355528.8:c.2377C>G	ENSP00000347719.4:p.Gln793Glu
ENST00000539345.6:c.2377C>G	ENSP00000440671.2:p.Gln793Glu
ENST00000571618.5:n.555C>G
ENST00000571796.5:n.1035C>G
ENST00000574422.1:c.691C>G	ENSP00000458599.1:p.Gln231Glu
ENST00000574818.5:n.435C>G
ENST00000574886.1:n.761C>G
ENST00000574975.5:c.754C>G
ENST00000576760.5:c.691C>G	ENSP00000460949.1:p.Gln231Glu
NM_005993.4:c.2377C>G	NP_005984.3:p.Gln793Glu
XM_005256396.3:c.2326C>G	XP_005256453.1:p.Gln776Glu
XM_005256399.3:c.1093C>G	XP_005256456.1:p.Gln365Glu
XM_005256400.3:c.691C>G	XP_005256457.1:p.Gln231Glu
XM_005256401.3:c.691C>G	XP_005256458.1:p.Gln231Glu
XM_005256402.3:c.691C>G	XP_005256459.1:p.Gln231Glu
XM_005256403.3:c.691C>G	XP_005256460.1:p.Gln231Glu
XM_005256404.3:c.691C>G	XP_005256461.1:p.Gln231Glu
XM_006722290.2:c.2296C>G	XP_006722353.1:p.Gln766Glu
XM_006722291.2:c.1081C>G	XP_006722354.1:p.Gln361Glu
XM_006722292.2:c.691C>G	XP_006722355.1:p.Gln231Glu
XM_011523589.1:c.2032C>G	XP_011521891.1:p.Gln678Glu
XM_011523590.1:c.2020C>G	XP_011521892.1:p.Gln674Glu
XM_011523591.1:c.2017C>G	XP_011521893.1:p.Gln673Glu
XM_011523592.1:c.1930C>G	XP_011521894.1:p.Gln644Glu
XM_011523593.1:c.1624C>G	XP_011521895.1:p.Gln542Glu
XM_011523594.1:c.1105C>G	XP_011521896.1:p.Gln369Glu
XM_011523595.1:c.1072C>G	XP_011521897.1:p.Gln358Glu
XM_011523597.1:c.838C>G	XP_011521899.1:p.Gln280Glu
XM_011523598.1:c.835C>G	XP_011521900.1:p.Gln279Glu
XM_011523599.1:c.829C>G	XP_011521901.1:p.Gln277Glu
XM_011523600.1:c.691C>G	XP_011521902.1:p.Gln231Glu
XR_430033.2:n.2485C>G
XM_005256396.4:c.2326C>G	XP_005256453.1:p.Gln776Glu
XM_005256399.5:c.1093C>G	XP_005256456.1:p.Gln365Glu
XM_005256404.4:c.691C>G	XP_005256461.1:p.Gln231Glu
XM_006722291.4:c.1081C>G	XP_006722354.1:p.Gln361Glu
XM_006722292.3:c.691C>G	XP_006722355.1:p.Gln231Glu
XM_011523589.2:c.2032C>G	XP_011521891.1:p.Gln678Glu
XM_011523591.2:c.2017C>G	XP_011521893.1:p.Gln673Glu
XM_011523593.2:c.1624C>G	XP_011521895.1:p.Gln542Glu
XM_011523594.2:c.1105C>G	XP_011521896.1:p.Gln369Glu
XM_011523595.3:c.1072C>G	XP_011521897.1:p.Gln358Glu
XM_011523597.2:c.838C>G	XP_011521899.1:p.Gln280Glu
XM_011523599.2:c.829C>G	XP_011521901.1:p.Gln277Glu
XM_011523600.3:c.691C>G	XP_011521902.1:p.Gln231Glu
XM_017024987.1:c.2188C>G	XP_016880476.1:p.Gln730Glu
XM_017024989.1:c.739C>G	XP_016880478.1:p.Gln247Glu
XM_017024990.2:c.691C>G	XP_016880479.1:p.Gln231Glu
XM_024450899.1:c.691C>G	XP_024306667.1:p.Gln231Glu
XM_024450900.1:c.691C>G	XP_024306668.1:p.Gln231Glu
XM_024450901.1:c.691C>G	XP_024306669.1:p.Gln231Glu
XM_024450902.1:c.691C>G	XP_024306670.1:p.Gln231Glu
XR_001752597.1:n.2485C>G
XR_001752598.1:n.2485C>G
XR_001752599.1:n.2485C>G
XR_001752600.1:n.2403C>G
NM_005993.5:c.2377C>G MANE Select	NP_005984.3:p.Gln793Glu