Canonical Allele Identifier: CA412649049

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147307G>A , CM000685.2:g.31147307G>A	GRCh38
NC_000023.10:g.31165424G>A , CM000685.1:g.31165424G>A	GRCh37
NC_000023.9:g.31075345G>A	NCBI36
NG_012232.1:g.2197303C>T , LRG_199:g.2197303C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10765C>T MANE Select	NP_003997.2:p.Gln3589Ter
ENST00000357033.9:c.10765C>T MANE Select	ENSP00000354923.3:p.Gln3589Ter
NM_000109.3:c.10741C>T	NP_000100.2:p.Gln3581Ter
NM_000109.4:c.10741C>T	NP_000100.3:p.Gln3581Ter
NM_004006.2:c.10765C>T , LRG_199t1:c.10765C>T	NP_003997.1:p.Gln3589Ter
NM_004009.3:c.10753C>T	NP_004000.1:p.Gln3585Ter
NM_004010.3:c.10396C>T	NP_004001.1:p.Gln3466Ter
NM_004011.3:c.6742C>T	NP_004002.2:p.Gln2248Ter
NM_004011.4:c.6742C>T	NP_004002.3:p.Gln2248Ter
NM_004012.3:c.6733C>T	NP_004003.1:p.Gln2245Ter
NM_004012.4:c.6733C>T	NP_004003.2:p.Gln2245Ter
NM_004013.2:c.3385C>T	NP_004004.1:p.Gln1129Ter
NM_004013.3:c.3385C>T	NP_004004.2:p.Gln1129Ter
NM_004014.2:c.2578C>T	NP_004005.1:p.Gln860Ter
NM_004014.3:c.2578C>T	NP_004005.2:p.Gln860Ter
NM_004015.2:c.1561C>T	NP_004006.1:p.Gln521Ter
NM_004015.3:c.1561C>T	NP_004006.1:p.Gln521Ter
NM_004016.2:c.1561C>T	NP_004007.1:p.Gln521Ter
NM_004016.3:c.1561C>T	NP_004007.1:p.Gln521Ter
NM_004017.2:c.1522C>T	NP_004008.1:p.Gln508Ter
NM_004017.3:c.1522C>T	NP_004008.1:p.Gln508Ter
NM_004018.2:c.1522C>T	NP_004009.1:p.Gln508Ter
NM_004018.3:c.1522C>T	NP_004009.1:p.Gln508Ter
NM_004020.3:c.3055C>T	NP_004011.2:p.Gln1019Ter
NM_004020.4:c.3055C>T	NP_004011.3:p.Gln1019Ter
NM_004021.2:c.3385C>T	NP_004012.1:p.Gln1129Ter
NM_004021.3:c.3385C>T	NP_004012.2:p.Gln1129Ter
NM_004022.2:c.3346C>T	NP_004013.1:p.Gln1116Ter
NM_004022.3:c.3346C>T	NP_004013.2:p.Gln1116Ter
NM_004023.2:c.3055C>T	NP_004014.1:p.Gln1019Ter
NM_004023.3:c.3055C>T	NP_004014.2:p.Gln1019Ter
ENST00000343523.6:c.2578C>T	ENSP00000340057.3:p.Gln860Ter
ENST00000343523.7:c.2620C>T	ENSP00000340057.4:p.Gln874Ter
ENST00000357033.8:c.10765C>T	ENSP00000354923.3:p.Gln3589Ter
ENST00000358062.6:c.3814C>T	ENSP00000350765.2:p.Gln1272Ter
ENST00000358062.7:c.5572C>T	ENSP00000350765.3:p.Gln1858Ter
ENST00000359836.5:c.3346C>T	ENSP00000352894.1:p.Gln1116Ter
ENST00000361471.8:c.1522C>T	ENSP00000354464.4:p.Gln508Ter
ENST00000378677.6:c.10753C>T	ENSP00000367948.2:p.Gln3585Ter
ENST00000378680.6:c.1231C>T	ENSP00000367951.2:p.Gln411Ter
ENST00000378702.8:c.1561C>T	ENSP00000367974.4:p.Gln521Ter
ENST00000378707.7:c.3385C>T	ENSP00000367979.3:p.Gln1129Ter
ENST00000378723.7:c.1561C>T	ENSP00000367997.3:p.Gln521Ter
ENST00000474231.5:c.3385C>T	ENSP00000417123.1:p.Gln1129Ter
ENST00000481143.2:n.114+22136C>T
ENST00000541735.5:c.3055C>T	ENSP00000444119.1:p.Gln1019Ter
ENST00000619831.4:c.10750C>T	ENSP00000479270.1:p.Gln3584Ter
ENST00000619831.5:c.6733C>T	ENSP00000479270.2:p.Gln2245Ter
ENST00000620040.4:c.10762C>T	ENSP00000478150.1:p.Gln3588Ter
ENST00000620040.5:c.3335+11C>T	ENSP00000478150.2:n.3335+11C>T
ENST00000679437.1:c.427C>T	ENSP00000506629.1:p.Gln143Ter
ENST00000679641.1:c.*437C>T	ENSP00000506135.1:n.*437C>T
ENST00000679706.1:c.392C>T
ENST00000679850.1:n.5776C>T
ENST00000680162.1:c.1438C>T	ENSP00000506634.1:p.Gln480Ter
ENST00000680162.2:c.1456C>T	ENSP00000506634.2:p.Gln486Ter
ENST00000680355.1:c.1231C>T	ENSP00000506257.1:p.Gln411Ter
ENST00000680557.1:c.604-13113C>T	ENSP00000505164.1:n.604-13113C>T
ENST00000680701.1:n.540C>T
ENST00000680768.1:c.1465C>T	ENSP00000506359.1:p.Gln489Ter
ENST00000680768.2:c.1522C>T	ENSP00000506359.2:p.Gln508Ter
ENST00000680961.1:c.*728C>T	ENSP00000506386.1:n.*728C>T
ENST00000681026.1:c.427C>T	ENSP00000506689.1:p.Gln143Ter
ENST00000681153.1:c.1522C>T	ENSP00000505124.1:p.Gln508Ter
ENST00000681989.1:n.1563C>T
ENST00000682207.1:n.885C>T
ENST00000682238.1:c.3055C>T	ENSP00000508124.1:p.Gln1019Ter
ENST00000682322.1:c.1456C>T	ENSP00000507690.1:p.Gln486Ter
ENST00000682600.1:c.1522C>T	ENSP00000507640.1:p.Gln508Ter
ENST00000682769.1:n.1357C>T
ENST00000683503.1:n.2580C>T
ENST00000683509.1:n.2243C>T
ENST00000683675.1:n.1864C>T
ENST00000683709.1:n.2244C>T
ENST00000683957.1:n.4218C>T
ENST00000683995.1:n.910C>T
ENST00000684072.1:n.994C>T
ENST00000684103.1:n.1173C>T
ENST00000684130.1:c.3346C>T	ENSP00000508037.1:p.Gln1116Ter
ENST00000684342.1:n.1809C>T
ENST00000684350.1:n.2580C>T
XM_006724468.2:c.10765C>T	XP_006724531.1:p.Gln3589Ter
XM_006724469.2:c.10741C>T	XP_006724532.1:p.Gln3581Ter
XM_006724469.3:c.10741C>T	XP_006724532.1:p.Gln3581Ter
XM_006724470.2:c.10726C>T	XP_006724533.1:p.Gln3576Ter
XM_006724470.3:c.10726C>T	XP_006724533.1:p.Gln3576Ter
XM_006724471.2:c.10660C>T	XP_006724534.1:p.Gln3554Ter
XM_006724472.2:c.10636C>T	XP_006724535.1:p.Gln3546Ter
XM_006724473.2:c.10627C>T	XP_006724536.1:p.Gln3543Ter
XM_006724474.2:c.10435C>T	XP_006724537.1:p.Gln3479Ter
XM_006724474.3:c.10435C>T	XP_006724537.1:p.Gln3479Ter
XM_006724475.2:c.10435C>T	XP_006724538.1:p.Gln3479Ter
XM_011545467.1:c.10642C>T	XP_011543769.1:p.Gln3548Ter
XM_017029328.1:c.10726C>T	XP_016884817.1:p.Gln3576Ter
XM_017029331.1:c.4939C>T	XP_016884820.1:p.Gln1647Ter