Canonical Allele Identifier: CA295296945

Gene: TBCD

Linked Data

• dbSNP Id: rs761385056
• gnomAD v4: 17-82925055-C-A
• MyVariant Identifiers: chr17:g.80882931C>A (hg19) ; chr17:g.82925055C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1585C>A
ENST00000576677.6:n.1506C>A
ENST00000681983.1:n.2513C>A
ENST00000682099.1:n.1274C>A
ENST00000682213.1:c.*348C>A	ENSP00000508166.1:n.*348C>A
ENST00000682315.1:c.691C>A	ENSP00000507232.1:p.Gln231Lys
ENST00000682479.1:c.2467C>A	ENSP00000508214.1:p.Gln823Lys
ENST00000682610.1:n.1617C>A
ENST00000682654.1:c.*348C>A	ENSP00000507412.1:n.*348C>A
ENST00000682722.1:c.2326C>A	ENSP00000508364.1:p.Gln776Lys
ENST00000683041.1:c.*348C>A	ENSP00000506994.1:n.*348C>A
ENST00000683184.1:c.*2030C>A	ENSP00000507757.1:n.*2030C>A
ENST00000683282.1:c.2293C>A	ENSP00000506913.1:p.Gln765Lys
ENST00000683444.1:c.*1954C>A	ENSP00000507553.1:n.*1954C>A
ENST00000683584.1:n.1200C>A
ENST00000683821.1:c.691C>A	ENSP00000507651.1:p.Gln231Lys
ENST00000683839.1:n.1831C>A
ENST00000684000.1:c.2461C>A	ENSP00000506795.1:p.Gln821Lys
ENST00000684188.1:c.2188C>A	ENSP00000507153.1:p.Gln730Lys
ENST00000684349.1:c.2563C>A	ENSP00000508067.1:p.Gln855Lys
ENST00000684361.1:c.2377C>A	ENSP00000507364.1:p.Gln793Lys
ENST00000684408.1:c.2020C>A	ENSP00000506837.1:p.Gln674Lys
ENST00000684429.1:c.2305C>A	ENSP00000507224.1:p.Gln769Lys
ENST00000684464.1:c.2470C>A	ENSP00000508333.1:p.Gln824Lys
ENST00000684544.1:c.2296C>A	ENSP00000507337.1:p.Gln766Lys
ENST00000684559.1:n.1132C>A
ENST00000684760.1:c.2644C>A	ENSP00000507696.1:p.Gln882Lys
ENST00000684776.1:c.*860C>A	ENSP00000507861.1:n.*860C>A
ENST00000355528.9:c.2377C>A MANE Select	ENSP00000347719.4:p.Gln793Lys
ENST00000355528.8:c.2377C>A	ENSP00000347719.4:p.Gln793Lys
ENST00000539345.6:c.2377C>A	ENSP00000440671.2:p.Gln793Lys
ENST00000571618.5:n.555C>A
ENST00000571796.5:n.1035C>A
ENST00000574422.1:c.691C>A	ENSP00000458599.1:p.Gln231Lys
ENST00000574818.5:n.435C>A
ENST00000574886.1:n.761C>A
ENST00000574975.5:c.754C>A
ENST00000576760.5:c.691C>A	ENSP00000460949.1:p.Gln231Lys
NM_005993.4:c.2377C>A	NP_005984.3:p.Gln793Lys
XM_005256396.3:c.2326C>A	XP_005256453.1:p.Gln776Lys
XM_005256399.3:c.1093C>A	XP_005256456.1:p.Gln365Lys
XM_005256400.3:c.691C>A	XP_005256457.1:p.Gln231Lys
XM_005256401.3:c.691C>A	XP_005256458.1:p.Gln231Lys
XM_005256402.3:c.691C>A	XP_005256459.1:p.Gln231Lys
XM_005256403.3:c.691C>A	XP_005256460.1:p.Gln231Lys
XM_005256404.3:c.691C>A	XP_005256461.1:p.Gln231Lys
XM_006722290.2:c.2296C>A	XP_006722353.1:p.Gln766Lys
XM_006722291.2:c.1081C>A	XP_006722354.1:p.Gln361Lys
XM_006722292.2:c.691C>A	XP_006722355.1:p.Gln231Lys
XM_011523589.1:c.2032C>A	XP_011521891.1:p.Gln678Lys
XM_011523590.1:c.2020C>A	XP_011521892.1:p.Gln674Lys
XM_011523591.1:c.2017C>A	XP_011521893.1:p.Gln673Lys
XM_011523592.1:c.1930C>A	XP_011521894.1:p.Gln644Lys
XM_011523593.1:c.1624C>A	XP_011521895.1:p.Gln542Lys
XM_011523594.1:c.1105C>A	XP_011521896.1:p.Gln369Lys
XM_011523595.1:c.1072C>A	XP_011521897.1:p.Gln358Lys
XM_011523597.1:c.838C>A	XP_011521899.1:p.Gln280Lys
XM_011523598.1:c.835C>A	XP_011521900.1:p.Gln279Lys
XM_011523599.1:c.829C>A	XP_011521901.1:p.Gln277Lys
XM_011523600.1:c.691C>A	XP_011521902.1:p.Gln231Lys
XR_430033.2:n.2485C>A
XM_005256396.4:c.2326C>A	XP_005256453.1:p.Gln776Lys
XM_005256399.5:c.1093C>A	XP_005256456.1:p.Gln365Lys
XM_005256404.4:c.691C>A	XP_005256461.1:p.Gln231Lys
XM_006722291.4:c.1081C>A	XP_006722354.1:p.Gln361Lys
XM_006722292.3:c.691C>A	XP_006722355.1:p.Gln231Lys
XM_011523589.2:c.2032C>A	XP_011521891.1:p.Gln678Lys
XM_011523591.2:c.2017C>A	XP_011521893.1:p.Gln673Lys
XM_011523593.2:c.1624C>A	XP_011521895.1:p.Gln542Lys
XM_011523594.2:c.1105C>A	XP_011521896.1:p.Gln369Lys
XM_011523595.3:c.1072C>A	XP_011521897.1:p.Gln358Lys
XM_011523597.2:c.838C>A	XP_011521899.1:p.Gln280Lys
XM_011523599.2:c.829C>A	XP_011521901.1:p.Gln277Lys
XM_011523600.3:c.691C>A	XP_011521902.1:p.Gln231Lys
XM_017024987.1:c.2188C>A	XP_016880476.1:p.Gln730Lys
XM_017024989.1:c.739C>A	XP_016880478.1:p.Gln247Lys
XM_017024990.2:c.691C>A	XP_016880479.1:p.Gln231Lys
XM_024450899.1:c.691C>A	XP_024306667.1:p.Gln231Lys
XM_024450900.1:c.691C>A	XP_024306668.1:p.Gln231Lys
XM_024450901.1:c.691C>A	XP_024306669.1:p.Gln231Lys
XM_024450902.1:c.691C>A	XP_024306670.1:p.Gln231Lys
XR_001752597.1:n.2485C>A
XR_001752598.1:n.2485C>A
XR_001752599.1:n.2485C>A
XR_001752600.1:n.2403C>A
NM_005993.5:c.2377C>A MANE Select	NP_005984.3:p.Gln793Lys