Canonical Allele Identifier: CA401633265

Gene: TBCD

Linked Data

• dbSNP Id: rs2061629717
• gnomAD v3: 17-82924945-T-C
• gnomAD v4: 17-82924945-T-C
• MyVariant Identifiers: chr17:g.80882821T>C (hg19) ; chr17:g.82924945T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924945T>C , CM000679.2:g.82924945T>C	GRCh38
NC_000017.10:g.80882821T>C , CM000679.1:g.80882821T>C	GRCh37
NC_000017.9:g.78476110T>C	NCBI36
NG_011721.1:g.177882T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1475T>C
ENST00000576677.6:n.1396T>C
ENST00000681983.1:n.2403T>C
ENST00000682099.1:n.1164T>C
ENST00000682213.1:c.*238T>C	ENSP00000508166.1:n.*238T>C
ENST00000682315.1:c.581T>C	ENSP00000507232.1:p.Leu194Pro
ENST00000682479.1:c.2357T>C	ENSP00000508214.1:p.Leu786Pro
ENST00000682610.1:n.1507T>C
ENST00000682654.1:c.*238T>C	ENSP00000507412.1:n.*238T>C
ENST00000682722.1:c.2216T>C	ENSP00000508364.1:p.Leu739Pro
ENST00000683041.1:c.*238T>C	ENSP00000506994.1:n.*238T>C
ENST00000683184.1:c.*1920T>C	ENSP00000507757.1:n.*1920T>C
ENST00000683282.1:c.2183T>C	ENSP00000506913.1:p.Leu728Pro
ENST00000683444.1:c.*1844T>C	ENSP00000507553.1:n.*1844T>C
ENST00000683584.1:n.1090T>C
ENST00000683821.1:c.581T>C	ENSP00000507651.1:p.Leu194Pro
ENST00000683839.1:n.1721T>C
ENST00000684000.1:c.2351T>C	ENSP00000506795.1:p.Leu784Pro
ENST00000684188.1:c.2078T>C	ENSP00000507153.1:p.Leu693Pro
ENST00000684349.1:c.2453T>C	ENSP00000508067.1:p.Leu818Pro
ENST00000684361.1:c.2267T>C	ENSP00000507364.1:p.Leu756Pro
ENST00000684408.1:c.1910T>C	ENSP00000506837.1:p.Leu637Pro
ENST00000684429.1:c.2195T>C	ENSP00000507224.1:p.Leu732Pro
ENST00000684464.1:c.2360T>C	ENSP00000508333.1:p.Leu787Pro
ENST00000684544.1:c.2186T>C	ENSP00000507337.1:p.Leu729Pro
ENST00000684559.1:n.1022T>C
ENST00000684760.1:c.2534T>C	ENSP00000507696.1:p.Leu845Pro
ENST00000684776.1:c.*750T>C	ENSP00000507861.1:n.*750T>C
ENST00000355528.9:c.2267T>C MANE Select	ENSP00000347719.4:p.Leu756Pro
ENST00000355528.8:c.2267T>C	ENSP00000347719.4:p.Leu756Pro
ENST00000539345.6:c.2267T>C	ENSP00000440671.2:p.Leu756Pro
ENST00000571618.5:n.445T>C
ENST00000571796.5:n.925T>C
ENST00000574422.1:c.581T>C	ENSP00000458599.1:p.Leu194Pro
ENST00000574818.5:n.325T>C
ENST00000574886.1:n.651T>C
ENST00000574975.5:c.644T>C	ENSP00000461680.1:p.Leu215Pro
ENST00000576760.5:c.581T>C	ENSP00000460949.1:p.Leu194Pro
NM_005993.4:c.2267T>C	NP_005984.3:p.Leu756Pro
XM_005256396.3:c.2216T>C	XP_005256453.1:p.Leu739Pro
XM_005256399.3:c.983T>C	XP_005256456.1:p.Leu328Pro
XM_005256400.3:c.581T>C	XP_005256457.1:p.Leu194Pro
XM_005256401.3:c.581T>C	XP_005256458.1:p.Leu194Pro
XM_005256402.3:c.581T>C	XP_005256459.1:p.Leu194Pro
XM_005256403.3:c.581T>C	XP_005256460.1:p.Leu194Pro
XM_005256404.3:c.581T>C	XP_005256461.1:p.Leu194Pro
XM_006722290.2:c.2186T>C	XP_006722353.1:p.Leu729Pro
XM_006722291.2:c.971T>C	XP_006722354.1:p.Leu324Pro
XM_006722292.2:c.581T>C	XP_006722355.1:p.Leu194Pro
XM_011523589.1:c.1922T>C	XP_011521891.1:p.Leu641Pro
XM_011523590.1:c.1910T>C	XP_011521892.1:p.Leu637Pro
XM_011523591.1:c.1907T>C	XP_011521893.1:p.Leu636Pro
XM_011523592.1:c.1820T>C	XP_011521894.1:p.Leu607Pro
XM_011523593.1:c.1514T>C	XP_011521895.1:p.Leu505Pro
XM_011523594.1:c.995T>C	XP_011521896.1:p.Leu332Pro
XM_011523595.1:c.962T>C	XP_011521897.1:p.Leu321Pro
XM_011523596.1:c.2185T>C	XP_011521898.1:p.Ter729Arg
XM_011523597.1:c.728T>C	XP_011521899.1:p.Leu243Pro
XM_011523598.1:c.725T>C	XP_011521900.1:p.Leu242Pro
XM_011523599.1:c.719T>C	XP_011521901.1:p.Leu240Pro
XM_011523600.1:c.581T>C	XP_011521902.1:p.Leu194Pro
XR_430033.2:n.2375T>C
XM_005256396.4:c.2216T>C	XP_005256453.1:p.Leu739Pro
XM_005256399.5:c.983T>C	XP_005256456.1:p.Leu328Pro
XM_005256404.4:c.581T>C	XP_005256461.1:p.Leu194Pro
XM_006722291.4:c.971T>C	XP_006722354.1:p.Leu324Pro
XM_006722292.3:c.581T>C	XP_006722355.1:p.Leu194Pro
XM_011523589.2:c.1922T>C	XP_011521891.1:p.Leu641Pro
XM_011523591.2:c.1907T>C	XP_011521893.1:p.Leu636Pro
XM_011523593.2:c.1514T>C	XP_011521895.1:p.Leu505Pro
XM_011523594.2:c.995T>C	XP_011521896.1:p.Leu332Pro
XM_011523595.3:c.962T>C	XP_011521897.1:p.Leu321Pro
XM_011523597.2:c.728T>C	XP_011521899.1:p.Leu243Pro
XM_011523599.2:c.719T>C	XP_011521901.1:p.Leu240Pro
XM_011523600.3:c.581T>C	XP_011521902.1:p.Leu194Pro
XM_017024987.1:c.2078T>C	XP_016880476.1:p.Leu693Pro
XM_017024989.1:c.629T>C	XP_016880478.1:p.Leu210Pro
XM_017024990.2:c.581T>C	XP_016880479.1:p.Leu194Pro
XM_024450899.1:c.581T>C	XP_024306667.1:p.Leu194Pro
XM_024450900.1:c.581T>C	XP_024306668.1:p.Leu194Pro
XM_024450901.1:c.581T>C	XP_024306669.1:p.Leu194Pro
XM_024450902.1:c.581T>C	XP_024306670.1:p.Leu194Pro
XR_001752597.1:n.2375T>C
XR_001752598.1:n.2375T>C
XR_001752599.1:n.2375T>C
XR_001752600.1:n.2293T>C
NM_005993.5:c.2267T>C MANE Select	NP_005984.3:p.Leu756Pro