Canonical Allele Identifier: CA401633608

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925034-C-T
• MyVariant Identifiers: chr17:g.80882910C>T (hg19) ; chr17:g.82925034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925034C>T , CM000679.2:g.82925034C>T	GRCh38
NC_000017.10:g.80882910C>T , CM000679.1:g.80882910C>T	GRCh37
NC_000017.9:g.78476199C>T	NCBI36
NG_011721.1:g.177971C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1564C>T
ENST00000576677.6:n.1485C>T
ENST00000681983.1:n.2492C>T
ENST00000682099.1:n.1253C>T
ENST00000682213.1:c.*327C>T	ENSP00000508166.1:n.*327C>T
ENST00000682315.1:c.670C>T	ENSP00000507232.1:p.Leu224Phe
ENST00000682479.1:c.2446C>T	ENSP00000508214.1:p.Leu816Phe
ENST00000682610.1:n.1596C>T
ENST00000682654.1:c.*327C>T	ENSP00000507412.1:n.*327C>T
ENST00000682722.1:c.2305C>T	ENSP00000508364.1:p.Leu769Phe
ENST00000683041.1:c.*327C>T	ENSP00000506994.1:n.*327C>T
ENST00000683184.1:c.*2009C>T	ENSP00000507757.1:n.*2009C>T
ENST00000683282.1:c.2272C>T	ENSP00000506913.1:p.Leu758Phe
ENST00000683444.1:c.*1933C>T	ENSP00000507553.1:n.*1933C>T
ENST00000683584.1:n.1179C>T
ENST00000683821.1:c.670C>T	ENSP00000507651.1:p.Leu224Phe
ENST00000683839.1:n.1810C>T
ENST00000684000.1:c.2440C>T	ENSP00000506795.1:p.Leu814Phe
ENST00000684188.1:c.2167C>T	ENSP00000507153.1:p.Leu723Phe
ENST00000684349.1:c.2542C>T	ENSP00000508067.1:p.Leu848Phe
ENST00000684361.1:c.2356C>T	ENSP00000507364.1:p.Leu786Phe
ENST00000684408.1:c.1999C>T	ENSP00000506837.1:p.Leu667Phe
ENST00000684429.1:c.2284C>T	ENSP00000507224.1:p.Leu762Phe
ENST00000684464.1:c.2449C>T	ENSP00000508333.1:p.Leu817Phe
ENST00000684544.1:c.2275C>T	ENSP00000507337.1:p.Leu759Phe
ENST00000684559.1:n.1111C>T
ENST00000684760.1:c.2623C>T	ENSP00000507696.1:p.Leu875Phe
ENST00000684776.1:c.*839C>T	ENSP00000507861.1:n.*839C>T
ENST00000355528.9:c.2356C>T MANE Select	ENSP00000347719.4:p.Leu786Phe
ENST00000355528.8:c.2356C>T	ENSP00000347719.4:p.Leu786Phe
ENST00000539345.6:c.2356C>T	ENSP00000440671.2:p.Leu786Phe
ENST00000571618.5:n.534C>T
ENST00000571796.5:n.1014C>T
ENST00000574422.1:c.670C>T	ENSP00000458599.1:p.Leu224Phe
ENST00000574818.5:n.414C>T
ENST00000574886.1:n.740C>T
ENST00000574975.5:c.733C>T	ENSP00000461680.1:p.Leu245Phe
ENST00000576760.5:c.670C>T	ENSP00000460949.1:p.Leu224Phe
NM_005993.4:c.2356C>T	NP_005984.3:p.Leu786Phe
XM_005256396.3:c.2305C>T	XP_005256453.1:p.Leu769Phe
XM_005256399.3:c.1072C>T	XP_005256456.1:p.Leu358Phe
XM_005256400.3:c.670C>T	XP_005256457.1:p.Leu224Phe
XM_005256401.3:c.670C>T	XP_005256458.1:p.Leu224Phe
XM_005256402.3:c.670C>T	XP_005256459.1:p.Leu224Phe
XM_005256403.3:c.670C>T	XP_005256460.1:p.Leu224Phe
XM_005256404.3:c.670C>T	XP_005256461.1:p.Leu224Phe
XM_006722290.2:c.2275C>T	XP_006722353.1:p.Leu759Phe
XM_006722291.2:c.1060C>T	XP_006722354.1:p.Leu354Phe
XM_006722292.2:c.670C>T	XP_006722355.1:p.Leu224Phe
XM_011523589.1:c.2011C>T	XP_011521891.1:p.Leu671Phe
XM_011523590.1:c.1999C>T	XP_011521892.1:p.Leu667Phe
XM_011523591.1:c.1996C>T	XP_011521893.1:p.Leu666Phe
XM_011523592.1:c.1909C>T	XP_011521894.1:p.Leu637Phe
XM_011523593.1:c.1603C>T	XP_011521895.1:p.Leu535Phe
XM_011523594.1:c.1084C>T	XP_011521896.1:p.Leu362Phe
XM_011523595.1:c.1051C>T	XP_011521897.1:p.Leu351Phe
XM_011523597.1:c.817C>T	XP_011521899.1:p.Leu273Phe
XM_011523598.1:c.814C>T	XP_011521900.1:p.Leu272Phe
XM_011523599.1:c.808C>T	XP_011521901.1:p.Leu270Phe
XM_011523600.1:c.670C>T	XP_011521902.1:p.Leu224Phe
XR_430033.2:n.2464C>T
XM_005256396.4:c.2305C>T	XP_005256453.1:p.Leu769Phe
XM_005256399.5:c.1072C>T	XP_005256456.1:p.Leu358Phe
XM_005256404.4:c.670C>T	XP_005256461.1:p.Leu224Phe
XM_006722291.4:c.1060C>T	XP_006722354.1:p.Leu354Phe
XM_006722292.3:c.670C>T	XP_006722355.1:p.Leu224Phe
XM_011523589.2:c.2011C>T	XP_011521891.1:p.Leu671Phe
XM_011523591.2:c.1996C>T	XP_011521893.1:p.Leu666Phe
XM_011523593.2:c.1603C>T	XP_011521895.1:p.Leu535Phe
XM_011523594.2:c.1084C>T	XP_011521896.1:p.Leu362Phe
XM_011523595.3:c.1051C>T	XP_011521897.1:p.Leu351Phe
XM_011523597.2:c.817C>T	XP_011521899.1:p.Leu273Phe
XM_011523599.2:c.808C>T	XP_011521901.1:p.Leu270Phe
XM_011523600.3:c.670C>T	XP_011521902.1:p.Leu224Phe
XM_017024987.1:c.2167C>T	XP_016880476.1:p.Leu723Phe
XM_017024989.1:c.718C>T	XP_016880478.1:p.Leu240Phe
XM_017024990.2:c.670C>T	XP_016880479.1:p.Leu224Phe
XM_024450899.1:c.670C>T	XP_024306667.1:p.Leu224Phe
XM_024450900.1:c.670C>T	XP_024306668.1:p.Leu224Phe
XM_024450901.1:c.670C>T	XP_024306669.1:p.Leu224Phe
XM_024450902.1:c.670C>T	XP_024306670.1:p.Leu224Phe
XR_001752597.1:n.2464C>T
XR_001752598.1:n.2464C>T
XR_001752599.1:n.2464C>T
XR_001752600.1:n.2382C>T
NM_005993.5:c.2356C>T MANE Select	NP_005984.3:p.Leu786Phe