Canonical Allele Identifier: CA10377549

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147411C>T , CM000685.2:g.31147411C>T	GRCh38
NC_000023.10:g.31165528C>T , CM000685.1:g.31165528C>T	GRCh37
NC_000023.9:g.31075449C>T	NCBI36
NG_012232.1:g.2197199G>A , LRG_199:g.2197199G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10661G>A MANE Select	NP_003997.2:p.Arg3554Gln
ENST00000357033.9:c.10661G>A MANE Select	ENSP00000354923.3:p.Arg3554Gln
NM_000109.3:c.10637G>A	NP_000100.2:p.Arg3546Gln
NM_000109.4:c.10637G>A	NP_000100.3:p.Arg3546Gln
NM_004006.2:c.10661G>A , LRG_199t1:c.10661G>A	NP_003997.1:p.Arg3554Gln
NM_004009.3:c.10649G>A	NP_004000.1:p.Arg3550Gln
NM_004010.3:c.10292G>A	NP_004001.1:p.Arg3431Gln
NM_004011.3:c.6638G>A	NP_004002.2:p.Arg2213Gln
NM_004011.4:c.6638G>A	NP_004002.3:p.Arg2213Gln
NM_004012.3:c.6629G>A	NP_004003.1:p.Arg2210Gln
NM_004012.4:c.6629G>A	NP_004003.2:p.Arg2210Gln
NM_004013.2:c.3281G>A	NP_004004.1:p.Arg1094Gln
NM_004013.3:c.3281G>A	NP_004004.2:p.Arg1094Gln
NM_004014.2:c.2474G>A	NP_004005.1:p.Arg825Gln
NM_004014.3:c.2474G>A	NP_004005.2:p.Arg825Gln
NM_004015.2:c.1457G>A	NP_004006.1:p.Arg486Gln
NM_004015.3:c.1457G>A	NP_004006.1:p.Arg486Gln
NM_004016.2:c.1457G>A	NP_004007.1:p.Arg486Gln
NM_004016.3:c.1457G>A	NP_004007.1:p.Arg486Gln
NM_004017.2:c.1418G>A	NP_004008.1:p.Arg473Gln
NM_004017.3:c.1418G>A	NP_004008.1:p.Arg473Gln
NM_004018.2:c.1418G>A	NP_004009.1:p.Arg473Gln
NM_004018.3:c.1418G>A	NP_004009.1:p.Arg473Gln
NM_004020.3:c.2951G>A	NP_004011.2:p.Arg984Gln
NM_004020.4:c.2951G>A	NP_004011.3:p.Arg984Gln
NM_004021.2:c.3281G>A	NP_004012.1:p.Arg1094Gln
NM_004021.3:c.3281G>A	NP_004012.2:p.Arg1094Gln
NM_004022.2:c.3242G>A	NP_004013.1:p.Arg1081Gln
NM_004022.3:c.3242G>A	NP_004013.2:p.Arg1081Gln
NM_004023.2:c.2951G>A	NP_004014.1:p.Arg984Gln
NM_004023.3:c.2951G>A	NP_004014.2:p.Arg984Gln
ENST00000343523.6:c.2474G>A	ENSP00000340057.3:p.Arg825Gln
ENST00000343523.7:c.2516G>A	ENSP00000340057.4:p.Arg839Gln
ENST00000357033.8:c.10661G>A	ENSP00000354923.3:p.Arg3554Gln
ENST00000358062.6:c.3710G>A	ENSP00000350765.2:p.Arg1237Gln
ENST00000358062.7:c.5468G>A	ENSP00000350765.3:p.Arg1823Gln
ENST00000359836.5:c.3242G>A	ENSP00000352894.1:p.Arg1081Gln
ENST00000361471.8:c.1418G>A	ENSP00000354464.4:p.Arg473Gln
ENST00000378677.6:c.10649G>A	ENSP00000367948.2:p.Arg3550Gln
ENST00000378680.6:c.1127G>A	ENSP00000367951.2:p.Arg376Gln
ENST00000378702.8:c.1457G>A	ENSP00000367974.4:p.Arg486Gln
ENST00000378707.7:c.3281G>A	ENSP00000367979.3:p.Arg1094Gln
ENST00000378723.7:c.1457G>A	ENSP00000367997.3:p.Arg486Gln
ENST00000474231.5:c.3281G>A	ENSP00000417123.1:p.Arg1094Gln
ENST00000481143.2:n.114+22032G>A
ENST00000541735.5:c.2951G>A	ENSP00000444119.1:p.Arg984Gln
ENST00000619831.4:c.10646G>A	ENSP00000479270.1:p.Arg3549Gln
ENST00000619831.5:c.6629G>A	ENSP00000479270.2:p.Arg2210Gln
ENST00000620040.4:c.10658G>A	ENSP00000478150.1:p.Arg3553Gln
ENST00000620040.5:c.3242G>A	ENSP00000478150.2:p.Arg1081Gln
ENST00000679437.1:c.323G>A	ENSP00000506629.1:p.Arg108Gln
ENST00000679641.1:c.*333G>A	ENSP00000506135.1:n.*333G>A
ENST00000679706.1:c.288G>A
ENST00000679850.1:n.5672G>A
ENST00000680162.1:c.1334G>A	ENSP00000506634.1:p.Arg445Gln
ENST00000680162.2:c.1352G>A	ENSP00000506634.2:p.Arg451Gln
ENST00000680355.1:c.1127G>A	ENSP00000506257.1:p.Arg376Gln
ENST00000680557.1:c.604-13217G>A	ENSP00000505164.1:n.604-13217G>A
ENST00000680701.1:n.436G>A
ENST00000680768.1:c.1361G>A	ENSP00000506359.1:p.Arg454Gln
ENST00000680768.2:c.1418G>A	ENSP00000506359.2:p.Arg473Gln
ENST00000680961.1:c.*624G>A	ENSP00000506386.1:n.*624G>A
ENST00000681026.1:c.323G>A	ENSP00000506689.1:p.Arg108Gln
ENST00000681153.1:c.1418G>A	ENSP00000505124.1:p.Arg473Gln
ENST00000681989.1:n.1459G>A
ENST00000682207.1:n.781G>A
ENST00000682238.1:c.2951G>A	ENSP00000508124.1:p.Arg984Gln
ENST00000682322.1:c.1352G>A	ENSP00000507690.1:p.Arg451Gln
ENST00000682600.1:c.1418G>A	ENSP00000507640.1:p.Arg473Gln
ENST00000682769.1:n.1253G>A
ENST00000683503.1:n.2476G>A
ENST00000683509.1:n.2139G>A
ENST00000683675.1:n.1760G>A
ENST00000683709.1:n.2140G>A
ENST00000683957.1:n.4114G>A
ENST00000683995.1:n.806G>A
ENST00000684072.1:n.890G>A
ENST00000684103.1:n.1069G>A
ENST00000684130.1:c.3242G>A	ENSP00000508037.1:p.Arg1081Gln
ENST00000684342.1:n.1705G>A
ENST00000684350.1:n.2476G>A
XM_006724468.2:c.10661G>A	XP_006724531.1:p.Arg3554Gln
XM_006724469.2:c.10637G>A	XP_006724532.1:p.Arg3546Gln
XM_006724469.3:c.10637G>A	XP_006724532.1:p.Arg3546Gln
XM_006724470.2:c.10622G>A	XP_006724533.1:p.Arg3541Gln
XM_006724470.3:c.10622G>A	XP_006724533.1:p.Arg3541Gln
XM_006724471.2:c.10556G>A	XP_006724534.1:p.Arg3519Gln
XM_006724472.2:c.10532G>A	XP_006724535.1:p.Arg3511Gln
XM_006724473.2:c.10523G>A	XP_006724536.1:p.Arg3508Gln
XM_006724474.2:c.10331G>A	XP_006724537.1:p.Arg3444Gln
XM_006724474.3:c.10331G>A	XP_006724537.1:p.Arg3444Gln
XM_006724475.2:c.10331G>A	XP_006724538.1:p.Arg3444Gln
XM_011545467.1:c.10538G>A	XP_011543769.1:p.Arg3513Gln
XM_017029328.1:c.10622G>A	XP_016884817.1:p.Arg3541Gln
XM_017029331.1:c.4835G>A	XP_016884820.1:p.Arg1612Gln