Canonical Allele Identifier: CA10604571

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31173588G>A , CM000685.2:g.31173588G>A	GRCh38
NC_000023.10:g.31191705G>A , CM000685.1:g.31191705G>A	GRCh37
NC_000023.9:g.31101626G>A	NCBI36
NG_012232.1:g.2171022C>T , LRG_199:g.2171022C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10279C>T MANE Select	NP_003997.2:p.Gln3427Ter
ENST00000357033.9:c.10279C>T MANE Select	ENSP00000354923.3:p.Gln3427Ter
NM_000109.3:c.10255C>T	NP_000100.2:p.Gln3419Ter
NM_000109.4:c.10255C>T	NP_000100.3:p.Gln3419Ter
NM_004006.2:c.10279C>T , LRG_199t1:c.10279C>T	NP_003997.1:p.Gln3427Ter
NM_004009.3:c.10267C>T	NP_004000.1:p.Gln3423Ter
NM_004010.3:c.9910C>T	NP_004001.1:p.Gln3304Ter
NM_004011.3:c.6256C>T	NP_004002.2:p.Gln2086Ter
NM_004011.4:c.6256C>T	NP_004002.3:p.Gln2086Ter
NM_004012.3:c.6247C>T	NP_004003.1:p.Gln2083Ter
NM_004012.4:c.6247C>T	NP_004003.2:p.Gln2083Ter
NM_004013.2:c.2899C>T	NP_004004.1:p.Gln967Ter
NM_004013.3:c.2899C>T	NP_004004.2:p.Gln967Ter
NM_004014.2:c.2092C>T	NP_004005.1:p.Gln698Ter
NM_004014.3:c.2092C>T	NP_004005.2:p.Gln698Ter
NM_004015.2:c.1075C>T	NP_004006.1:p.Gln359Ter
NM_004015.3:c.1075C>T	NP_004006.1:p.Gln359Ter
NM_004016.2:c.1075C>T	NP_004007.1:p.Gln359Ter
NM_004016.3:c.1075C>T	NP_004007.1:p.Gln359Ter
NM_004017.2:c.1036C>T	NP_004008.1:p.Gln346Ter
NM_004017.3:c.1036C>T	NP_004008.1:p.Gln346Ter
NM_004018.2:c.1036C>T	NP_004009.1:p.Gln346Ter
NM_004018.3:c.1036C>T	NP_004009.1:p.Gln346Ter
NM_004020.3:c.2843+5081C>T	NP_004011.2:n.2843+5081C>T
NM_004020.4:c.2843+5081C>T	NP_004011.3:n.2843+5081C>T
NM_004021.2:c.2899C>T	NP_004012.1:p.Gln967Ter
NM_004021.3:c.2899C>T	NP_004012.2:p.Gln967Ter
NM_004022.2:c.2860C>T	NP_004013.1:p.Gln954Ter
NM_004022.3:c.2860C>T	NP_004013.2:p.Gln954Ter
NM_004023.2:c.2843+5081C>T	NP_004014.1:n.2843+5081C>T
NM_004023.3:c.2843+5081C>T	NP_004014.2:n.2843+5081C>T
ENST00000343523.6:c.2092C>T	ENSP00000340057.3:p.Gln698Ter
ENST00000343523.7:c.2134C>T	ENSP00000340057.4:p.Gln712Ter
ENST00000357033.8:c.10279C>T	ENSP00000354923.3:p.Gln3427Ter
ENST00000358062.6:c.3328C>T	ENSP00000350765.2:p.Gln1110Ter
ENST00000358062.7:c.5086C>T	ENSP00000350765.3:p.Gln1696Ter
ENST00000359836.5:c.2860C>T	ENSP00000352894.1:p.Gln954Ter
ENST00000361471.8:c.1036C>T	ENSP00000354464.4:p.Gln346Ter
ENST00000378677.6:c.10267C>T	ENSP00000367948.2:p.Gln3423Ter
ENST00000378680.6:c.1019+5081C>T	ENSP00000367951.2:n.1019+5081C>T
ENST00000378702.8:c.1075C>T	ENSP00000367974.4:p.Gln359Ter
ENST00000378705.3:c.649C>T	ENSP00000367977.3:p.Gln217Ter
ENST00000378707.7:c.2899C>T	ENSP00000367979.3:p.Gln967Ter
ENST00000378723.7:c.1075C>T	ENSP00000367997.3:p.Gln359Ter
ENST00000474231.5:c.2899C>T	ENSP00000417123.1:p.Gln967Ter
ENST00000541735.5:c.2843+5081C>T	ENSP00000444119.1:n.2843+5081C>T
ENST00000619831.4:c.10264C>T	ENSP00000479270.1:p.Gln3422Ter
ENST00000619831.5:c.6247C>T	ENSP00000479270.2:p.Gln2083Ter
ENST00000620040.4:c.10276C>T	ENSP00000478150.1:p.Gln3426Ter
ENST00000620040.5:c.2860C>T	ENSP00000478150.2:p.Gln954Ter
ENST00000679437.1:c.-60C>T	ENSP00000506629.1:n.-60C>T
ENST00000679641.1:c.*225+5081C>T	ENSP00000506135.1:n.*225+5081C>T
ENST00000679706.1:c.180+5081C>T
ENST00000679850.1:n.4165C>T
ENST00000680162.1:c.952C>T	ENSP00000506634.1:p.Gln318Ter
ENST00000680162.2:c.1020-1175C>T	ENSP00000506634.2:n.1020-1175C>T
ENST00000680355.1:c.1019+5081C>T	ENSP00000506257.1:n.1019+5081C>T
ENST00000680557.1:c.603+30373C>T	ENSP00000505164.1:n.603+30373C>T
ENST00000680701.1:n.54C>T
ENST00000680768.1:c.979C>T	ENSP00000506359.1:p.Gln327Ter
ENST00000680768.2:c.1036C>T	ENSP00000506359.2:p.Gln346Ter
ENST00000680961.1:c.*242C>T	ENSP00000506386.1:n.*242C>T
ENST00000681026.1:c.-60C>T	ENSP00000506689.1:n.-60C>T
ENST00000681153.1:c.1036C>T	ENSP00000505124.1:p.Gln346Ter
ENST00000681989.1:n.1077C>T
ENST00000682238.1:c.2843+5081C>T	ENSP00000508124.1:n.2843+5081C>T
ENST00000682322.1:c.1020-1175C>T	ENSP00000507690.1:n.1020-1175C>T
ENST00000682600.1:c.1036C>T	ENSP00000507640.1:p.Gln346Ter
ENST00000682769.1:n.871C>T
ENST00000683503.1:n.2094C>T
ENST00000683509.1:n.1757C>T
ENST00000683675.1:n.1378C>T
ENST00000683709.1:n.1758C>T
ENST00000683957.1:n.3732C>T
ENST00000684072.1:n.508C>T
ENST00000684130.1:c.2860C>T	ENSP00000508037.1:p.Gln954Ter
ENST00000684350.1:n.2094C>T
XM_006724468.2:c.10279C>T	XP_006724531.1:p.Gln3427Ter
XM_006724469.2:c.10255C>T	XP_006724532.1:p.Gln3419Ter
XM_006724469.3:c.10255C>T	XP_006724532.1:p.Gln3419Ter
XM_006724470.2:c.10240C>T	XP_006724533.1:p.Gln3414Ter
XM_006724470.3:c.10240C>T	XP_006724533.1:p.Gln3414Ter
XM_006724471.2:c.10224-1175C>T	XP_006724534.1:n.10224-1175C>T
XM_006724472.2:c.10150C>T	XP_006724535.1:p.Gln3384Ter
XM_006724473.2:c.10141C>T	XP_006724536.1:p.Gln3381Ter
XM_006724474.2:c.10223+5081C>T	XP_006724537.1:n.10223+5081C>T
XM_006724474.3:c.10223+5081C>T	XP_006724537.1:n.10223+5081C>T
XM_006724475.2:c.10223+5081C>T	XP_006724538.1:n.10223+5081C>T
XM_011545467.1:c.10156C>T	XP_011543769.1:p.Gln3386Ter
XM_017029328.1:c.10240C>T	XP_016884817.1:p.Gln3414Ter
XM_017029331.1:c.4453C>T	XP_016884820.1:p.Gln1485Ter