Canonical Allele Identifier: CA502597386

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924946-G-T
• MyVariant Identifiers: chr17:g.80882822G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924946G>T , CM000679.2:g.82924946G>T	GRCh38
NC_000017.10:g.80882822G>T , CM000679.1:g.80882822G>T	GRCh37
NC_000017.9:g.78476111G>T	NCBI36
NG_011721.1:g.177883G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1476G>T
ENST00000576677.6:n.1397G>T
ENST00000681983.1:n.2404G>T
ENST00000682099.1:n.1165G>T
ENST00000682213.1:c.*239G>T	ENSP00000508166.1:n.*239G>T
ENST00000682315.1:c.582G>T	ENSP00000507232.1:p.Leu194=
ENST00000682479.1:c.2358G>T	ENSP00000508214.1:p.Leu786=
ENST00000682610.1:n.1508G>T
ENST00000682654.1:c.*239G>T	ENSP00000507412.1:n.*239G>T
ENST00000682722.1:c.2217G>T	ENSP00000508364.1:p.Leu739=
ENST00000683041.1:c.*239G>T	ENSP00000506994.1:n.*239G>T
ENST00000683184.1:c.*1921G>T	ENSP00000507757.1:n.*1921G>T
ENST00000683282.1:c.2184G>T	ENSP00000506913.1:p.Leu728=
ENST00000683444.1:c.*1845G>T	ENSP00000507553.1:n.*1845G>T
ENST00000683584.1:n.1091G>T
ENST00000683821.1:c.582G>T	ENSP00000507651.1:p.Leu194=
ENST00000683839.1:n.1722G>T
ENST00000684000.1:c.2352G>T	ENSP00000506795.1:p.Leu784=
ENST00000684188.1:c.2079G>T	ENSP00000507153.1:p.Leu693=
ENST00000684349.1:c.2454G>T	ENSP00000508067.1:p.Leu818=
ENST00000684361.1:c.2268G>T	ENSP00000507364.1:p.Leu756=
ENST00000684408.1:c.1911G>T	ENSP00000506837.1:p.Leu637=
ENST00000684429.1:c.2196G>T	ENSP00000507224.1:p.Leu732=
ENST00000684464.1:c.2361G>T	ENSP00000508333.1:p.Leu787=
ENST00000684544.1:c.2187G>T	ENSP00000507337.1:p.Leu729=
ENST00000684559.1:n.1023G>T
ENST00000684760.1:c.2535G>T	ENSP00000507696.1:p.Leu845=
ENST00000684776.1:c.*751G>T	ENSP00000507861.1:n.*751G>T
ENST00000355528.9:c.2268G>T MANE Select	ENSP00000347719.4:p.Leu756=
ENST00000355528.8:c.2268G>T	ENSP00000347719.4:p.Leu756=
ENST00000539345.6:c.2268G>T	ENSP00000440671.2:p.Leu756=
ENST00000571618.5:n.446G>T
ENST00000571796.5:n.926G>T
ENST00000574422.1:c.582G>T	ENSP00000458599.1:p.Leu194=
ENST00000574818.5:n.326G>T
ENST00000574886.1:n.652G>T
ENST00000574975.5:c.645G>T	ENSP00000461680.1:p.Leu215=
ENST00000576760.5:c.582G>T	ENSP00000460949.1:p.Leu194=
NM_005993.4:c.2268G>T	NP_005984.3:p.Leu756=
XM_005256396.3:c.2217G>T	XP_005256453.1:p.Leu739=
XM_005256399.3:c.984G>T	XP_005256456.1:p.Leu328=
XM_005256400.3:c.582G>T	XP_005256457.1:p.Leu194=
XM_005256401.3:c.582G>T	XP_005256458.1:p.Leu194=
XM_005256402.3:c.582G>T	XP_005256459.1:p.Leu194=
XM_005256403.3:c.582G>T	XP_005256460.1:p.Leu194=
XM_005256404.3:c.582G>T	XP_005256461.1:p.Leu194=
XM_006722290.2:c.2187G>T	XP_006722353.1:p.Leu729=
XM_006722291.2:c.972G>T	XP_006722354.1:p.Leu324=
XM_006722292.2:c.582G>T	XP_006722355.1:p.Leu194=
XM_011523589.1:c.1923G>T	XP_011521891.1:p.Leu641=
XM_011523590.1:c.1911G>T	XP_011521892.1:p.Leu637=
XM_011523591.1:c.1908G>T	XP_011521893.1:p.Leu636=
XM_011523592.1:c.1821G>T	XP_011521894.1:p.Leu607=
XM_011523593.1:c.1515G>T	XP_011521895.1:p.Leu505=
XM_011523594.1:c.996G>T	XP_011521896.1:p.Leu332=
XM_011523595.1:c.963G>T	XP_011521897.1:p.Leu321=
XM_011523596.1:c.2186G>T	XP_011521898.1:p.Ter729Leu
XM_011523597.1:c.729G>T	XP_011521899.1:p.Leu243=
XM_011523598.1:c.726G>T	XP_011521900.1:p.Leu242=
XM_011523599.1:c.720G>T	XP_011521901.1:p.Leu240=
XM_011523600.1:c.582G>T	XP_011521902.1:p.Leu194=
XR_430033.2:n.2376G>T
XM_005256396.4:c.2217G>T	XP_005256453.1:p.Leu739=
XM_005256399.5:c.984G>T	XP_005256456.1:p.Leu328=
XM_005256404.4:c.582G>T	XP_005256461.1:p.Leu194=
XM_006722291.4:c.972G>T	XP_006722354.1:p.Leu324=
XM_006722292.3:c.582G>T	XP_006722355.1:p.Leu194=
XM_011523589.2:c.1923G>T	XP_011521891.1:p.Leu641=
XM_011523591.2:c.1908G>T	XP_011521893.1:p.Leu636=
XM_011523593.2:c.1515G>T	XP_011521895.1:p.Leu505=
XM_011523594.2:c.996G>T	XP_011521896.1:p.Leu332=
XM_011523595.3:c.963G>T	XP_011521897.1:p.Leu321=
XM_011523597.2:c.729G>T	XP_011521899.1:p.Leu243=
XM_011523599.2:c.720G>T	XP_011521901.1:p.Leu240=
XM_011523600.3:c.582G>T	XP_011521902.1:p.Leu194=
XM_017024987.1:c.2079G>T	XP_016880476.1:p.Leu693=
XM_017024989.1:c.630G>T	XP_016880478.1:p.Leu210=
XM_017024990.2:c.582G>T	XP_016880479.1:p.Leu194=
XM_024450899.1:c.582G>T	XP_024306667.1:p.Leu194=
XM_024450900.1:c.582G>T	XP_024306668.1:p.Leu194=
XM_024450901.1:c.582G>T	XP_024306669.1:p.Leu194=
XM_024450902.1:c.582G>T	XP_024306670.1:p.Leu194=
XR_001752597.1:n.2376G>T
XR_001752598.1:n.2376G>T
XR_001752599.1:n.2376G>T
XR_001752600.1:n.2294G>T
NM_005993.5:c.2268G>T MANE Select	NP_005984.3:p.Leu756=