Canonical Allele Identifier: CA412649286
Community Standard Title: NM_004006.3(DMD):c.10660C>T (p.Arg3554Trp)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31147412G>A , CM000685.2:g.31147412G>A GRCh38
NC_000023.10:g.31165529G>A , CM000685.1:g.31165529G>A GRCh37
NC_000023.9:g.31075450G>A NCBI36
NG_012232.1:g.2197198C>T , LRG_199:g.2197198C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.10660C>T MANE Select NP_003997.2:p.Arg3554Trp
ENST00000357033.9:c.10660C>T MANE Select ENSP00000354923.3:p.Arg3554Trp
NM_000109.3:c.10636C>T NP_000100.2:p.Arg3546Trp
NM_000109.4:c.10636C>T NP_000100.3:p.Arg3546Trp
NM_004006.2:c.10660C>T , LRG_199t1:c.10660C>T NP_003997.1:p.Arg3554Trp
NM_004009.3:c.10648C>T NP_004000.1:p.Arg3550Trp
NM_004010.3:c.10291C>T NP_004001.1:p.Arg3431Trp
NM_004011.3:c.6637C>T NP_004002.2:p.Arg2213Trp
NM_004011.4:c.6637C>T NP_004002.3:p.Arg2213Trp
NM_004012.3:c.6628C>T NP_004003.1:p.Arg2210Trp
NM_004012.4:c.6628C>T NP_004003.2:p.Arg2210Trp
NM_004013.2:c.3280C>T NP_004004.1:p.Arg1094Trp
NM_004013.3:c.3280C>T NP_004004.2:p.Arg1094Trp
NM_004014.2:c.2473C>T NP_004005.1:p.Arg825Trp
NM_004014.3:c.2473C>T NP_004005.2:p.Arg825Trp
NM_004015.2:c.1456C>T NP_004006.1:p.Arg486Trp
NM_004015.3:c.1456C>T NP_004006.1:p.Arg486Trp
NM_004016.2:c.1456C>T NP_004007.1:p.Arg486Trp
NM_004016.3:c.1456C>T NP_004007.1:p.Arg486Trp
NM_004017.2:c.1417C>T NP_004008.1:p.Arg473Trp
NM_004017.3:c.1417C>T NP_004008.1:p.Arg473Trp
NM_004018.2:c.1417C>T NP_004009.1:p.Arg473Trp
NM_004018.3:c.1417C>T NP_004009.1:p.Arg473Trp
NM_004020.3:c.2950C>T NP_004011.2:p.Arg984Trp
NM_004020.4:c.2950C>T NP_004011.3:p.Arg984Trp
NM_004021.2:c.3280C>T NP_004012.1:p.Arg1094Trp
NM_004021.3:c.3280C>T NP_004012.2:p.Arg1094Trp
NM_004022.2:c.3241C>T NP_004013.1:p.Arg1081Trp
NM_004022.3:c.3241C>T NP_004013.2:p.Arg1081Trp
NM_004023.2:c.2950C>T NP_004014.1:p.Arg984Trp
NM_004023.3:c.2950C>T NP_004014.2:p.Arg984Trp
ENST00000343523.6:c.2473C>T ENSP00000340057.3:p.Arg825Trp
ENST00000343523.7:c.2515C>T ENSP00000340057.4:p.Arg839Trp
ENST00000357033.8:c.10660C>T ENSP00000354923.3:p.Arg3554Trp
ENST00000358062.6:c.3709C>T ENSP00000350765.2:p.Arg1237Trp
ENST00000358062.7:c.5467C>T ENSP00000350765.3:p.Arg1823Trp
ENST00000359836.5:c.3241C>T ENSP00000352894.1:p.Arg1081Trp
ENST00000361471.8:c.1417C>T ENSP00000354464.4:p.Arg473Trp
ENST00000378677.6:c.10648C>T ENSP00000367948.2:p.Arg3550Trp
ENST00000378680.6:c.1126C>T ENSP00000367951.2:p.Arg376Trp
ENST00000378702.8:c.1456C>T ENSP00000367974.4:p.Arg486Trp
ENST00000378707.7:c.3280C>T ENSP00000367979.3:p.Arg1094Trp
ENST00000378723.7:c.1456C>T ENSP00000367997.3:p.Arg486Trp
ENST00000474231.5:c.3280C>T ENSP00000417123.1:p.Arg1094Trp
ENST00000481143.2:n.114+22031C>T
ENST00000541735.5:c.2950C>T ENSP00000444119.1:p.Arg984Trp
ENST00000619831.4:c.10645C>T ENSP00000479270.1:p.Arg3549Trp
ENST00000619831.5:c.6628C>T ENSP00000479270.2:p.Arg2210Trp
ENST00000620040.4:c.10657C>T ENSP00000478150.1:p.Arg3553Trp
ENST00000620040.5:c.3241C>T ENSP00000478150.2:p.Arg1081Trp
ENST00000679437.1:c.322C>T ENSP00000506629.1:p.Arg108Trp
ENST00000679641.1:c.*332C>T ENSP00000506135.1:n.*332C>T
ENST00000679706.1:c.287C>T
ENST00000679850.1:n.5671C>T
ENST00000680162.1:c.1333C>T ENSP00000506634.1:p.Arg445Trp
ENST00000680162.2:c.1351C>T ENSP00000506634.2:p.Arg451Trp
ENST00000680355.1:c.1126C>T ENSP00000506257.1:p.Arg376Trp
ENST00000680557.1:c.604-13218C>T ENSP00000505164.1:n.604-13218C>T
ENST00000680701.1:n.435C>T
ENST00000680768.1:c.1360C>T ENSP00000506359.1:p.Arg454Trp
ENST00000680768.2:c.1417C>T ENSP00000506359.2:p.Arg473Trp
ENST00000680961.1:c.*623C>T ENSP00000506386.1:n.*623C>T
ENST00000681026.1:c.322C>T ENSP00000506689.1:p.Arg108Trp
ENST00000681153.1:c.1417C>T ENSP00000505124.1:p.Arg473Trp
ENST00000681989.1:n.1458C>T
ENST00000682207.1:n.780C>T
ENST00000682238.1:c.2950C>T ENSP00000508124.1:p.Arg984Trp
ENST00000682322.1:c.1351C>T ENSP00000507690.1:p.Arg451Trp
ENST00000682600.1:c.1417C>T ENSP00000507640.1:p.Arg473Trp
ENST00000682769.1:n.1252C>T
ENST00000683503.1:n.2475C>T
ENST00000683509.1:n.2138C>T
ENST00000683675.1:n.1759C>T
ENST00000683709.1:n.2139C>T
ENST00000683957.1:n.4113C>T
ENST00000683995.1:n.805C>T
ENST00000684072.1:n.889C>T
ENST00000684103.1:n.1068C>T
ENST00000684130.1:c.3241C>T ENSP00000508037.1:p.Arg1081Trp
ENST00000684342.1:n.1704C>T
ENST00000684350.1:n.2475C>T
XM_006724468.2:c.10660C>T XP_006724531.1:p.Arg3554Trp
XM_006724469.2:c.10636C>T XP_006724532.1:p.Arg3546Trp
XM_006724469.3:c.10636C>T XP_006724532.1:p.Arg3546Trp
XM_006724470.2:c.10621C>T XP_006724533.1:p.Arg3541Trp
XM_006724470.3:c.10621C>T XP_006724533.1:p.Arg3541Trp
XM_006724471.2:c.10555C>T XP_006724534.1:p.Arg3519Trp
XM_006724472.2:c.10531C>T XP_006724535.1:p.Arg3511Trp
XM_006724473.2:c.10522C>T XP_006724536.1:p.Arg3508Trp
XM_006724474.2:c.10330C>T XP_006724537.1:p.Arg3444Trp
XM_006724474.3:c.10330C>T XP_006724537.1:p.Arg3444Trp
XM_006724475.2:c.10330C>T XP_006724538.1:p.Arg3444Trp
XM_011545467.1:c.10537C>T XP_011543769.1:p.Arg3513Trp
XM_017029328.1:c.10621C>T XP_016884817.1:p.Arg3541Trp
XM_017029331.1:c.4834C>T XP_016884820.1:p.Arg1612Trp