Canonical Allele Identifier: CA401633302

Gene: TBCD

Linked Data

• dbSNP Id: rs957285007
• gnomAD v4: 17-82924963-C-T
• MyVariant Identifiers: chr17:g.80882839C>T (hg19) ; chr17:g.82924963C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924963C>T , CM000679.2:g.82924963C>T	GRCh38
NC_000017.10:g.80882839C>T , CM000679.1:g.80882839C>T	GRCh37
NC_000017.9:g.78476128C>T	NCBI36
NG_011721.1:g.177900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1493C>T
ENST00000576677.6:n.1414C>T
ENST00000681983.1:n.2421C>T
ENST00000682099.1:n.1182C>T
ENST00000682213.1:c.*256C>T	ENSP00000508166.1:n.*256C>T
ENST00000682315.1:c.599C>T	ENSP00000507232.1:p.Ala200Val
ENST00000682479.1:c.2375C>T	ENSP00000508214.1:p.Ala792Val
ENST00000682610.1:n.1525C>T
ENST00000682654.1:c.*256C>T	ENSP00000507412.1:n.*256C>T
ENST00000682722.1:c.2234C>T	ENSP00000508364.1:p.Ala745Val
ENST00000683041.1:c.*256C>T	ENSP00000506994.1:n.*256C>T
ENST00000683184.1:c.*1938C>T	ENSP00000507757.1:n.*1938C>T
ENST00000683282.1:c.2201C>T	ENSP00000506913.1:p.Ala734Val
ENST00000683444.1:c.*1862C>T	ENSP00000507553.1:n.*1862C>T
ENST00000683584.1:n.1108C>T
ENST00000683821.1:c.599C>T	ENSP00000507651.1:p.Ala200Val
ENST00000683839.1:n.1739C>T
ENST00000684000.1:c.2369C>T	ENSP00000506795.1:p.Ala790Val
ENST00000684188.1:c.2096C>T	ENSP00000507153.1:p.Ala699Val
ENST00000684349.1:c.2471C>T	ENSP00000508067.1:p.Ala824Val
ENST00000684361.1:c.2285C>T	ENSP00000507364.1:p.Ala762Val
ENST00000684408.1:c.1928C>T	ENSP00000506837.1:p.Ala643Val
ENST00000684429.1:c.2213C>T	ENSP00000507224.1:p.Ala738Val
ENST00000684464.1:c.2378C>T	ENSP00000508333.1:p.Ala793Val
ENST00000684544.1:c.2204C>T	ENSP00000507337.1:p.Ala735Val
ENST00000684559.1:n.1040C>T
ENST00000684760.1:c.2552C>T	ENSP00000507696.1:p.Ala851Val
ENST00000684776.1:c.*768C>T	ENSP00000507861.1:n.*768C>T
ENST00000355528.9:c.2285C>T MANE Select	ENSP00000347719.4:p.Ala762Val
ENST00000355528.8:c.2285C>T	ENSP00000347719.4:p.Ala762Val
ENST00000539345.6:c.2285C>T	ENSP00000440671.2:p.Ala762Val
ENST00000571618.5:n.463C>T
ENST00000571796.5:n.943C>T
ENST00000574422.1:c.599C>T	ENSP00000458599.1:p.Ala200Val
ENST00000574818.5:n.343C>T
ENST00000574886.1:n.669C>T
ENST00000574975.5:c.662C>T	ENSP00000461680.1:p.Ala221Val
ENST00000576760.5:c.599C>T	ENSP00000460949.1:p.Ala200Val
NM_005993.4:c.2285C>T	NP_005984.3:p.Ala762Val
XM_005256396.3:c.2234C>T	XP_005256453.1:p.Ala745Val
XM_005256399.3:c.1001C>T	XP_005256456.1:p.Ala334Val
XM_005256400.3:c.599C>T	XP_005256457.1:p.Ala200Val
XM_005256401.3:c.599C>T	XP_005256458.1:p.Ala200Val
XM_005256402.3:c.599C>T	XP_005256459.1:p.Ala200Val
XM_005256403.3:c.599C>T	XP_005256460.1:p.Ala200Val
XM_005256404.3:c.599C>T	XP_005256461.1:p.Ala200Val
XM_006722290.2:c.2204C>T	XP_006722353.1:p.Ala735Val
XM_006722291.2:c.989C>T	XP_006722354.1:p.Ala330Val
XM_006722292.2:c.599C>T	XP_006722355.1:p.Ala200Val
XM_011523589.1:c.1940C>T	XP_011521891.1:p.Ala647Val
XM_011523590.1:c.1928C>T	XP_011521892.1:p.Ala643Val
XM_011523591.1:c.1925C>T	XP_011521893.1:p.Ala642Val
XM_011523592.1:c.1838C>T	XP_011521894.1:p.Ala613Val
XM_011523593.1:c.1532C>T	XP_011521895.1:p.Ala511Val
XM_011523594.1:c.1013C>T	XP_011521896.1:p.Ala338Val
XM_011523595.1:c.980C>T	XP_011521897.1:p.Ala327Val
XM_011523596.1:c.*16C>T	XP_011521898.1:n.*16C>T
XM_011523597.1:c.746C>T	XP_011521899.1:p.Ala249Val
XM_011523598.1:c.743C>T	XP_011521900.1:p.Ala248Val
XM_011523599.1:c.737C>T	XP_011521901.1:p.Ala246Val
XM_011523600.1:c.599C>T	XP_011521902.1:p.Ala200Val
XR_430033.2:n.2393C>T
XM_005256396.4:c.2234C>T	XP_005256453.1:p.Ala745Val
XM_005256399.5:c.1001C>T	XP_005256456.1:p.Ala334Val
XM_005256404.4:c.599C>T	XP_005256461.1:p.Ala200Val
XM_006722291.4:c.989C>T	XP_006722354.1:p.Ala330Val
XM_006722292.3:c.599C>T	XP_006722355.1:p.Ala200Val
XM_011523589.2:c.1940C>T	XP_011521891.1:p.Ala647Val
XM_011523591.2:c.1925C>T	XP_011521893.1:p.Ala642Val
XM_011523593.2:c.1532C>T	XP_011521895.1:p.Ala511Val
XM_011523594.2:c.1013C>T	XP_011521896.1:p.Ala338Val
XM_011523595.3:c.980C>T	XP_011521897.1:p.Ala327Val
XM_011523597.2:c.746C>T	XP_011521899.1:p.Ala249Val
XM_011523599.2:c.737C>T	XP_011521901.1:p.Ala246Val
XM_011523600.3:c.599C>T	XP_011521902.1:p.Ala200Val
XM_017024987.1:c.2096C>T	XP_016880476.1:p.Ala699Val
XM_017024989.1:c.647C>T	XP_016880478.1:p.Ala216Val
XM_017024990.2:c.599C>T	XP_016880479.1:p.Ala200Val
XM_024450899.1:c.599C>T	XP_024306667.1:p.Ala200Val
XM_024450900.1:c.599C>T	XP_024306668.1:p.Ala200Val
XM_024450901.1:c.599C>T	XP_024306669.1:p.Ala200Val
XM_024450902.1:c.599C>T	XP_024306670.1:p.Ala200Val
XR_001752597.1:n.2393C>T
XR_001752598.1:n.2393C>T
XR_001752599.1:n.2393C>T
XR_001752600.1:n.2311C>T
NM_005993.5:c.2285C>T MANE Select	NP_005984.3:p.Ala762Val