Canonical Allele Identifier: CA412648946

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31146405C>A , CM000685.2:g.31146405C>A	GRCh38
NC_000023.10:g.31164522C>A , CM000685.1:g.31164522C>A	GRCh37
NC_000023.9:g.31074443C>A	NCBI36
NG_012232.1:g.2198205G>T , LRG_199:g.2198205G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10807G>T MANE Select	NP_003997.2:p.Glu3603Ter
ENST00000357033.9:c.10807G>T MANE Select	ENSP00000354923.3:p.Glu3603Ter
NM_000109.3:c.10783G>T	NP_000100.2:p.Glu3595Ter
NM_000109.4:c.10783G>T	NP_000100.3:p.Glu3595Ter
NM_004006.2:c.10807G>T , LRG_199t1:c.10807G>T	NP_003997.1:p.Glu3603Ter
NM_004009.3:c.10795G>T	NP_004000.1:p.Glu3599Ter
NM_004010.3:c.10438G>T	NP_004001.1:p.Glu3480Ter
NM_004011.3:c.6784G>T	NP_004002.2:p.Glu2262Ter
NM_004011.4:c.6784G>T	NP_004002.3:p.Glu2262Ter
NM_004012.3:c.6775G>T	NP_004003.1:p.Glu2259Ter
NM_004012.4:c.6775G>T	NP_004003.2:p.Glu2259Ter
NM_004013.2:c.3427G>T	NP_004004.1:p.Glu1143Ter
NM_004013.3:c.3427G>T	NP_004004.2:p.Glu1143Ter
NM_004014.2:c.2620G>T	NP_004005.1:p.Glu874Ter
NM_004014.3:c.2620G>T	NP_004005.2:p.Glu874Ter
NM_004015.2:c.1603G>T	NP_004006.1:p.Glu535Ter
NM_004015.3:c.1603G>T	NP_004006.1:p.Glu535Ter
NM_004016.2:c.1603G>T	NP_004007.1:p.Glu535Ter
NM_004016.3:c.1603G>T	NP_004007.1:p.Glu535Ter
NM_004017.2:c.1564G>T	NP_004008.1:p.Glu522Ter
NM_004017.3:c.1564G>T	NP_004008.1:p.Glu522Ter
NM_004018.2:c.1564G>T	NP_004009.1:p.Glu522Ter
NM_004018.3:c.1564G>T	NP_004009.1:p.Glu522Ter
NM_004020.3:c.3097G>T	NP_004011.2:p.Glu1033Ter
NM_004020.4:c.3097G>T	NP_004011.3:p.Glu1033Ter
NM_004021.2:c.3427G>T	NP_004012.1:p.Glu1143Ter
NM_004021.3:c.3427G>T	NP_004012.2:p.Glu1143Ter
NM_004022.2:c.3388G>T	NP_004013.1:p.Glu1130Ter
NM_004022.3:c.3388G>T	NP_004013.2:p.Glu1130Ter
NM_004023.2:c.3097G>T	NP_004014.1:p.Glu1033Ter
NM_004023.3:c.3097G>T	NP_004014.2:p.Glu1033Ter
ENST00000343523.6:c.2620G>T	ENSP00000340057.3:p.Glu874Ter
ENST00000343523.7:c.2662G>T	ENSP00000340057.4:p.Glu888Ter
ENST00000357033.8:c.10807G>T	ENSP00000354923.3:p.Glu3603Ter
ENST00000358062.6:c.3856G>T	ENSP00000350765.2:p.Glu1286Ter
ENST00000358062.7:c.5614G>T	ENSP00000350765.3:p.Glu1872Ter
ENST00000359836.5:c.3388G>T	ENSP00000352894.1:p.Glu1130Ter
ENST00000361471.8:c.1564G>T	ENSP00000354464.4:p.Glu522Ter
ENST00000378677.6:c.10795G>T	ENSP00000367948.2:p.Glu3599Ter
ENST00000378680.6:c.1273G>T	ENSP00000367951.2:p.Glu425Ter
ENST00000378702.8:c.1603G>T	ENSP00000367974.4:p.Glu535Ter
ENST00000378707.7:c.3427G>T	ENSP00000367979.3:p.Glu1143Ter
ENST00000378723.7:c.1603G>T	ENSP00000367997.3:p.Glu535Ter
ENST00000474231.5:c.3427G>T	ENSP00000417123.1:p.Glu1143Ter
ENST00000481143.2:n.114+23038G>T
ENST00000541735.5:c.3097G>T	ENSP00000444119.1:p.Glu1033Ter
ENST00000619831.4:c.10792G>T	ENSP00000479270.1:p.Glu3598Ter
ENST00000619831.5:c.6775G>T	ENSP00000479270.2:p.Glu2259Ter
ENST00000620040.4:c.10804G>T	ENSP00000478150.1:p.Glu3602Ter
ENST00000620040.5:c.3335+913G>T	ENSP00000478150.2:n.3335+913G>T
ENST00000679437.1:c.469G>T	ENSP00000506629.1:p.Glu157Ter
ENST00000679641.1:c.*479G>T	ENSP00000506135.1:n.*479G>T
ENST00000679706.1:c.434G>T
ENST00000679850.1:n.5818G>T
ENST00000680162.1:c.1480G>T	ENSP00000506634.1:p.Glu494Ter
ENST00000680162.2:c.1498G>T	ENSP00000506634.2:p.Glu500Ter
ENST00000680355.1:c.1273G>T	ENSP00000506257.1:p.Glu425Ter
ENST00000680557.1:c.604-12211G>T	ENSP00000505164.1:n.604-12211G>T
ENST00000680701.1:n.582G>T
ENST00000680768.1:c.1507G>T	ENSP00000506359.1:p.Glu503Ter
ENST00000680768.2:c.1555-51G>T	ENSP00000506359.2:n.1555-51G>T
ENST00000680961.1:c.*770G>T	ENSP00000506386.1:n.*770G>T
ENST00000681026.1:c.469G>T	ENSP00000506689.1:p.Glu157Ter
ENST00000681153.1:c.1564G>T	ENSP00000505124.1:p.Glu522Ter
ENST00000681989.1:n.1605G>T
ENST00000682207.1:n.927G>T
ENST00000682238.1:c.3097G>T	ENSP00000508124.1:p.Glu1033Ter
ENST00000682322.1:c.1498G>T	ENSP00000507690.1:p.Glu500Ter
ENST00000682600.1:c.1564G>T	ENSP00000507640.1:p.Glu522Ter
ENST00000682746.1:n.197G>T
ENST00000682769.1:n.1399G>T
ENST00000683503.1:n.2622G>T
ENST00000683509.1:n.2285G>T
ENST00000683675.1:n.1906G>T
ENST00000683709.1:n.2286G>T
ENST00000683995.1:n.952G>T
ENST00000684072.1:n.1036G>T
ENST00000684103.1:n.1215G>T
ENST00000684130.1:c.3388G>T	ENSP00000508037.1:p.Glu1130Ter
ENST00000684247.1:n.279G>T
ENST00000684342.1:n.1851G>T
ENST00000684350.1:n.2622G>T
XM_006724468.2:c.10807G>T	XP_006724531.1:p.Glu3603Ter
XM_006724469.2:c.10783G>T	XP_006724532.1:p.Glu3595Ter
XM_006724469.3:c.10783G>T	XP_006724532.1:p.Glu3595Ter
XM_006724470.2:c.10768G>T	XP_006724533.1:p.Glu3590Ter
XM_006724470.3:c.10768G>T	XP_006724533.1:p.Glu3590Ter
XM_006724471.2:c.10702G>T	XP_006724534.1:p.Glu3568Ter
XM_006724472.2:c.10678G>T	XP_006724535.1:p.Glu3560Ter
XM_006724473.2:c.10669G>T	XP_006724536.1:p.Glu3557Ter
XM_006724474.2:c.10477G>T	XP_006724537.1:p.Glu3493Ter
XM_006724474.3:c.10477G>T	XP_006724537.1:p.Glu3493Ter
XM_006724475.2:c.10477G>T	XP_006724538.1:p.Glu3493Ter
XM_011545467.1:c.10684G>T	XP_011543769.1:p.Glu3562Ter
XM_017029328.1:c.10768G>T	XP_016884817.1:p.Glu3590Ter
XM_017029331.1:c.4981G>T	XP_016884820.1:p.Glu1661Ter