Canonical Allele Identifier: CA412648980

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147276T>A , CM000685.2:g.31147276T>A	GRCh38
NC_000023.10:g.31165393T>A , CM000685.1:g.31165393T>A	GRCh37
NC_000023.9:g.31075314T>A	NCBI36
NG_012232.1:g.2197334A>T , LRG_199:g.2197334A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10796A>T MANE Select	NP_003997.2:p.Gln3599Leu
ENST00000357033.9:c.10796A>T MANE Select	ENSP00000354923.3:p.Gln3599Leu
NM_000109.3:c.10772A>T	NP_000100.2:p.Gln3591Leu
NM_000109.4:c.10772A>T	NP_000100.3:p.Gln3591Leu
NM_004006.2:c.10796A>T , LRG_199t1:c.10796A>T	NP_003997.1:p.Gln3599Leu
NM_004009.3:c.10784A>T	NP_004000.1:p.Gln3595Leu
NM_004010.3:c.10427A>T	NP_004001.1:p.Gln3476Leu
NM_004011.3:c.6773A>T	NP_004002.2:p.Gln2258Leu
NM_004011.4:c.6773A>T	NP_004002.3:p.Gln2258Leu
NM_004012.3:c.6764A>T	NP_004003.1:p.Gln2255Leu
NM_004012.4:c.6764A>T	NP_004003.2:p.Gln2255Leu
NM_004013.2:c.3416A>T	NP_004004.1:p.Gln1139Leu
NM_004013.3:c.3416A>T	NP_004004.2:p.Gln1139Leu
NM_004014.2:c.2609A>T	NP_004005.1:p.Gln870Leu
NM_004014.3:c.2609A>T	NP_004005.2:p.Gln870Leu
NM_004015.2:c.1592A>T	NP_004006.1:p.Gln531Leu
NM_004015.3:c.1592A>T	NP_004006.1:p.Gln531Leu
NM_004016.2:c.1592A>T	NP_004007.1:p.Gln531Leu
NM_004016.3:c.1592A>T	NP_004007.1:p.Gln531Leu
NM_004017.2:c.1553A>T	NP_004008.1:p.Gln518Leu
NM_004017.3:c.1553A>T	NP_004008.1:p.Gln518Leu
NM_004018.2:c.1553A>T	NP_004009.1:p.Gln518Leu
NM_004018.3:c.1553A>T	NP_004009.1:p.Gln518Leu
NM_004020.3:c.3086A>T	NP_004011.2:p.Gln1029Leu
NM_004020.4:c.3086A>T	NP_004011.3:p.Gln1029Leu
NM_004021.2:c.3416A>T	NP_004012.1:p.Gln1139Leu
NM_004021.3:c.3416A>T	NP_004012.2:p.Gln1139Leu
NM_004022.2:c.3377A>T	NP_004013.1:p.Gln1126Leu
NM_004022.3:c.3377A>T	NP_004013.2:p.Gln1126Leu
NM_004023.2:c.3086A>T	NP_004014.1:p.Gln1029Leu
NM_004023.3:c.3086A>T	NP_004014.2:p.Gln1029Leu
ENST00000343523.6:c.2609A>T	ENSP00000340057.3:p.Gln870Leu
ENST00000343523.7:c.2651A>T	ENSP00000340057.4:p.Gln884Leu
ENST00000357033.8:c.10796A>T	ENSP00000354923.3:p.Gln3599Leu
ENST00000358062.6:c.3845A>T	ENSP00000350765.2:p.Gln1282Leu
ENST00000358062.7:c.5603A>T	ENSP00000350765.3:p.Gln1868Leu
ENST00000359836.5:c.3377A>T	ENSP00000352894.1:p.Gln1126Leu
ENST00000361471.8:c.1553A>T	ENSP00000354464.4:p.Gln518Leu
ENST00000378677.6:c.10784A>T	ENSP00000367948.2:p.Gln3595Leu
ENST00000378680.6:c.1262A>T	ENSP00000367951.2:p.Gln421Leu
ENST00000378702.8:c.1592A>T	ENSP00000367974.4:p.Gln531Leu
ENST00000378707.7:c.3416A>T	ENSP00000367979.3:p.Gln1139Leu
ENST00000378723.7:c.1592A>T	ENSP00000367997.3:p.Gln531Leu
ENST00000474231.5:c.3416A>T	ENSP00000417123.1:p.Gln1139Leu
ENST00000481143.2:n.114+22167A>T
ENST00000541735.5:c.3086A>T	ENSP00000444119.1:p.Gln1029Leu
ENST00000619831.4:c.10781A>T	ENSP00000479270.1:p.Gln3594Leu
ENST00000619831.5:c.6764A>T	ENSP00000479270.2:p.Gln2255Leu
ENST00000620040.4:c.10793A>T	ENSP00000478150.1:p.Gln3598Leu
ENST00000620040.5:c.3335+42A>T	ENSP00000478150.2:n.3335+42A>T
ENST00000679437.1:c.458A>T	ENSP00000506629.1:p.Gln153Leu
ENST00000679641.1:c.*468A>T	ENSP00000506135.1:n.*468A>T
ENST00000679706.1:c.423A>T
ENST00000679850.1:n.5807A>T
ENST00000680162.1:c.1469A>T	ENSP00000506634.1:p.Gln490Leu
ENST00000680162.2:c.1487A>T	ENSP00000506634.2:p.Gln496Leu
ENST00000680355.1:c.1262A>T	ENSP00000506257.1:p.Gln421Leu
ENST00000680557.1:c.604-13082A>T	ENSP00000505164.1:n.604-13082A>T
ENST00000680701.1:n.571A>T
ENST00000680768.1:c.1496A>T	ENSP00000506359.1:p.Gln499Leu
ENST00000680768.2:c.1553A>T	ENSP00000506359.2:p.Gln518Leu
ENST00000680961.1:c.*759A>T	ENSP00000506386.1:n.*759A>T
ENST00000681026.1:c.458A>T	ENSP00000506689.1:p.Gln153Leu
ENST00000681153.1:c.1553A>T	ENSP00000505124.1:p.Gln518Leu
ENST00000681989.1:n.1594A>T
ENST00000682207.1:n.916A>T
ENST00000682238.1:c.3086A>T	ENSP00000508124.1:p.Gln1029Leu
ENST00000682322.1:c.1487A>T	ENSP00000507690.1:p.Gln496Leu
ENST00000682600.1:c.1553A>T	ENSP00000507640.1:p.Gln518Leu
ENST00000682769.1:n.1388A>T
ENST00000683503.1:n.2611A>T
ENST00000683509.1:n.2274A>T
ENST00000683675.1:n.1895A>T
ENST00000683709.1:n.2275A>T
ENST00000683957.1:n.4249A>T
ENST00000683995.1:n.941A>T
ENST00000684072.1:n.1025A>T
ENST00000684103.1:n.1204A>T
ENST00000684130.1:c.3377A>T	ENSP00000508037.1:p.Gln1126Leu
ENST00000684342.1:n.1840A>T
ENST00000684350.1:n.2611A>T
XM_006724468.2:c.10796A>T	XP_006724531.1:p.Gln3599Leu
XM_006724469.2:c.10772A>T	XP_006724532.1:p.Gln3591Leu
XM_006724469.3:c.10772A>T	XP_006724532.1:p.Gln3591Leu
XM_006724470.2:c.10757A>T	XP_006724533.1:p.Gln3586Leu
XM_006724470.3:c.10757A>T	XP_006724533.1:p.Gln3586Leu
XM_006724471.2:c.10691A>T	XP_006724534.1:p.Gln3564Leu
XM_006724472.2:c.10667A>T	XP_006724535.1:p.Gln3556Leu
XM_006724473.2:c.10658A>T	XP_006724536.1:p.Gln3553Leu
XM_006724474.2:c.10466A>T	XP_006724537.1:p.Gln3489Leu
XM_006724474.3:c.10466A>T	XP_006724537.1:p.Gln3489Leu
XM_006724475.2:c.10466A>T	XP_006724538.1:p.Gln3489Leu
XM_011545467.1:c.10673A>T	XP_011543769.1:p.Gln3558Leu
XM_017029328.1:c.10757A>T	XP_016884817.1:p.Gln3586Leu
XM_017029331.1:c.4970A>T	XP_016884820.1:p.Gln1657Leu