Canonical Allele Identifier: CA401633613

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925035-T-C
• MyVariant Identifiers: chr17:g.80882911T>C (hg19) ; chr17:g.82925035T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925035T>C , CM000679.2:g.82925035T>C	GRCh38
NC_000017.10:g.80882911T>C , CM000679.1:g.80882911T>C	GRCh37
NC_000017.9:g.78476200T>C	NCBI36
NG_011721.1:g.177972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1565T>C
ENST00000576677.6:n.1486T>C
ENST00000681983.1:n.2493T>C
ENST00000682099.1:n.1254T>C
ENST00000682213.1:c.*328T>C	ENSP00000508166.1:n.*328T>C
ENST00000682315.1:c.671T>C	ENSP00000507232.1:p.Leu224Pro
ENST00000682479.1:c.2447T>C	ENSP00000508214.1:p.Leu816Pro
ENST00000682610.1:n.1597T>C
ENST00000682654.1:c.*328T>C	ENSP00000507412.1:n.*328T>C
ENST00000682722.1:c.2306T>C	ENSP00000508364.1:p.Leu769Pro
ENST00000683041.1:c.*328T>C	ENSP00000506994.1:n.*328T>C
ENST00000683184.1:c.*2010T>C	ENSP00000507757.1:n.*2010T>C
ENST00000683282.1:c.2273T>C	ENSP00000506913.1:p.Leu758Pro
ENST00000683444.1:c.*1934T>C	ENSP00000507553.1:n.*1934T>C
ENST00000683584.1:n.1180T>C
ENST00000683821.1:c.671T>C	ENSP00000507651.1:p.Leu224Pro
ENST00000683839.1:n.1811T>C
ENST00000684000.1:c.2441T>C	ENSP00000506795.1:p.Leu814Pro
ENST00000684188.1:c.2168T>C	ENSP00000507153.1:p.Leu723Pro
ENST00000684349.1:c.2543T>C	ENSP00000508067.1:p.Leu848Pro
ENST00000684361.1:c.2357T>C	ENSP00000507364.1:p.Leu786Pro
ENST00000684408.1:c.2000T>C	ENSP00000506837.1:p.Leu667Pro
ENST00000684429.1:c.2285T>C	ENSP00000507224.1:p.Leu762Pro
ENST00000684464.1:c.2450T>C	ENSP00000508333.1:p.Leu817Pro
ENST00000684544.1:c.2276T>C	ENSP00000507337.1:p.Leu759Pro
ENST00000684559.1:n.1112T>C
ENST00000684760.1:c.2624T>C	ENSP00000507696.1:p.Leu875Pro
ENST00000684776.1:c.*840T>C	ENSP00000507861.1:n.*840T>C
ENST00000355528.9:c.2357T>C MANE Select	ENSP00000347719.4:p.Leu786Pro
ENST00000355528.8:c.2357T>C	ENSP00000347719.4:p.Leu786Pro
ENST00000539345.6:c.2357T>C	ENSP00000440671.2:p.Leu786Pro
ENST00000571618.5:n.535T>C
ENST00000571796.5:n.1015T>C
ENST00000574422.1:c.671T>C	ENSP00000458599.1:p.Leu224Pro
ENST00000574818.5:n.415T>C
ENST00000574886.1:n.741T>C
ENST00000574975.5:c.734T>C	ENSP00000461680.1:p.Leu245Pro
ENST00000576760.5:c.671T>C	ENSP00000460949.1:p.Leu224Pro
NM_005993.4:c.2357T>C	NP_005984.3:p.Leu786Pro
XM_005256396.3:c.2306T>C	XP_005256453.1:p.Leu769Pro
XM_005256399.3:c.1073T>C	XP_005256456.1:p.Leu358Pro
XM_005256400.3:c.671T>C	XP_005256457.1:p.Leu224Pro
XM_005256401.3:c.671T>C	XP_005256458.1:p.Leu224Pro
XM_005256402.3:c.671T>C	XP_005256459.1:p.Leu224Pro
XM_005256403.3:c.671T>C	XP_005256460.1:p.Leu224Pro
XM_005256404.3:c.671T>C	XP_005256461.1:p.Leu224Pro
XM_006722290.2:c.2276T>C	XP_006722353.1:p.Leu759Pro
XM_006722291.2:c.1061T>C	XP_006722354.1:p.Leu354Pro
XM_006722292.2:c.671T>C	XP_006722355.1:p.Leu224Pro
XM_011523589.1:c.2012T>C	XP_011521891.1:p.Leu671Pro
XM_011523590.1:c.2000T>C	XP_011521892.1:p.Leu667Pro
XM_011523591.1:c.1997T>C	XP_011521893.1:p.Leu666Pro
XM_011523592.1:c.1910T>C	XP_011521894.1:p.Leu637Pro
XM_011523593.1:c.1604T>C	XP_011521895.1:p.Leu535Pro
XM_011523594.1:c.1085T>C	XP_011521896.1:p.Leu362Pro
XM_011523595.1:c.1052T>C	XP_011521897.1:p.Leu351Pro
XM_011523597.1:c.818T>C	XP_011521899.1:p.Leu273Pro
XM_011523598.1:c.815T>C	XP_011521900.1:p.Leu272Pro
XM_011523599.1:c.809T>C	XP_011521901.1:p.Leu270Pro
XM_011523600.1:c.671T>C	XP_011521902.1:p.Leu224Pro
XR_430033.2:n.2465T>C
XM_005256396.4:c.2306T>C	XP_005256453.1:p.Leu769Pro
XM_005256399.5:c.1073T>C	XP_005256456.1:p.Leu358Pro
XM_005256404.4:c.671T>C	XP_005256461.1:p.Leu224Pro
XM_006722291.4:c.1061T>C	XP_006722354.1:p.Leu354Pro
XM_006722292.3:c.671T>C	XP_006722355.1:p.Leu224Pro
XM_011523589.2:c.2012T>C	XP_011521891.1:p.Leu671Pro
XM_011523591.2:c.1997T>C	XP_011521893.1:p.Leu666Pro
XM_011523593.2:c.1604T>C	XP_011521895.1:p.Leu535Pro
XM_011523594.2:c.1085T>C	XP_011521896.1:p.Leu362Pro
XM_011523595.3:c.1052T>C	XP_011521897.1:p.Leu351Pro
XM_011523597.2:c.818T>C	XP_011521899.1:p.Leu273Pro
XM_011523599.2:c.809T>C	XP_011521901.1:p.Leu270Pro
XM_011523600.3:c.671T>C	XP_011521902.1:p.Leu224Pro
XM_017024987.1:c.2168T>C	XP_016880476.1:p.Leu723Pro
XM_017024989.1:c.719T>C	XP_016880478.1:p.Leu240Pro
XM_017024990.2:c.671T>C	XP_016880479.1:p.Leu224Pro
XM_024450899.1:c.671T>C	XP_024306667.1:p.Leu224Pro
XM_024450900.1:c.671T>C	XP_024306668.1:p.Leu224Pro
XM_024450901.1:c.671T>C	XP_024306669.1:p.Leu224Pro
XM_024450902.1:c.671T>C	XP_024306670.1:p.Leu224Pro
XR_001752597.1:n.2465T>C
XR_001752598.1:n.2465T>C
XR_001752599.1:n.2465T>C
XR_001752600.1:n.2383T>C
NM_005993.5:c.2357T>C MANE Select	NP_005984.3:p.Leu786Pro