Canonical Allele Identifier: CA412648983

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147277G>A , CM000685.2:g.31147277G>A	GRCh38
NC_000023.10:g.31165394G>A , CM000685.1:g.31165394G>A	GRCh37
NC_000023.9:g.31075315G>A	NCBI36
NG_012232.1:g.2197333C>T , LRG_199:g.2197333C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10795C>T MANE Select	NP_003997.2:p.Gln3599Ter
ENST00000357033.9:c.10795C>T MANE Select	ENSP00000354923.3:p.Gln3599Ter
NM_000109.3:c.10771C>T	NP_000100.2:p.Gln3591Ter
NM_000109.4:c.10771C>T	NP_000100.3:p.Gln3591Ter
NM_004006.2:c.10795C>T , LRG_199t1:c.10795C>T	NP_003997.1:p.Gln3599Ter
NM_004009.3:c.10783C>T	NP_004000.1:p.Gln3595Ter
NM_004010.3:c.10426C>T	NP_004001.1:p.Gln3476Ter
NM_004011.3:c.6772C>T	NP_004002.2:p.Gln2258Ter
NM_004011.4:c.6772C>T	NP_004002.3:p.Gln2258Ter
NM_004012.3:c.6763C>T	NP_004003.1:p.Gln2255Ter
NM_004012.4:c.6763C>T	NP_004003.2:p.Gln2255Ter
NM_004013.2:c.3415C>T	NP_004004.1:p.Gln1139Ter
NM_004013.3:c.3415C>T	NP_004004.2:p.Gln1139Ter
NM_004014.2:c.2608C>T	NP_004005.1:p.Gln870Ter
NM_004014.3:c.2608C>T	NP_004005.2:p.Gln870Ter
NM_004015.2:c.1591C>T	NP_004006.1:p.Gln531Ter
NM_004015.3:c.1591C>T	NP_004006.1:p.Gln531Ter
NM_004016.2:c.1591C>T	NP_004007.1:p.Gln531Ter
NM_004016.3:c.1591C>T	NP_004007.1:p.Gln531Ter
NM_004017.2:c.1552C>T	NP_004008.1:p.Gln518Ter
NM_004017.3:c.1552C>T	NP_004008.1:p.Gln518Ter
NM_004018.2:c.1552C>T	NP_004009.1:p.Gln518Ter
NM_004018.3:c.1552C>T	NP_004009.1:p.Gln518Ter
NM_004020.3:c.3085C>T	NP_004011.2:p.Gln1029Ter
NM_004020.4:c.3085C>T	NP_004011.3:p.Gln1029Ter
NM_004021.2:c.3415C>T	NP_004012.1:p.Gln1139Ter
NM_004021.3:c.3415C>T	NP_004012.2:p.Gln1139Ter
NM_004022.2:c.3376C>T	NP_004013.1:p.Gln1126Ter
NM_004022.3:c.3376C>T	NP_004013.2:p.Gln1126Ter
NM_004023.2:c.3085C>T	NP_004014.1:p.Gln1029Ter
NM_004023.3:c.3085C>T	NP_004014.2:p.Gln1029Ter
ENST00000343523.6:c.2608C>T	ENSP00000340057.3:p.Gln870Ter
ENST00000343523.7:c.2650C>T	ENSP00000340057.4:p.Gln884Ter
ENST00000357033.8:c.10795C>T	ENSP00000354923.3:p.Gln3599Ter
ENST00000358062.6:c.3844C>T	ENSP00000350765.2:p.Gln1282Ter
ENST00000358062.7:c.5602C>T	ENSP00000350765.3:p.Gln1868Ter
ENST00000359836.5:c.3376C>T	ENSP00000352894.1:p.Gln1126Ter
ENST00000361471.8:c.1552C>T	ENSP00000354464.4:p.Gln518Ter
ENST00000378677.6:c.10783C>T	ENSP00000367948.2:p.Gln3595Ter
ENST00000378680.6:c.1261C>T	ENSP00000367951.2:p.Gln421Ter
ENST00000378702.8:c.1591C>T	ENSP00000367974.4:p.Gln531Ter
ENST00000378707.7:c.3415C>T	ENSP00000367979.3:p.Gln1139Ter
ENST00000378723.7:c.1591C>T	ENSP00000367997.3:p.Gln531Ter
ENST00000474231.5:c.3415C>T	ENSP00000417123.1:p.Gln1139Ter
ENST00000481143.2:n.114+22166C>T
ENST00000541735.5:c.3085C>T	ENSP00000444119.1:p.Gln1029Ter
ENST00000619831.4:c.10780C>T	ENSP00000479270.1:p.Gln3594Ter
ENST00000619831.5:c.6763C>T	ENSP00000479270.2:p.Gln2255Ter
ENST00000620040.4:c.10792C>T	ENSP00000478150.1:p.Gln3598Ter
ENST00000620040.5:c.3335+41C>T	ENSP00000478150.2:n.3335+41C>T
ENST00000679437.1:c.457C>T	ENSP00000506629.1:p.Gln153Ter
ENST00000679641.1:c.*467C>T	ENSP00000506135.1:n.*467C>T
ENST00000679706.1:c.422C>T
ENST00000679850.1:n.5806C>T
ENST00000680162.1:c.1468C>T	ENSP00000506634.1:p.Gln490Ter
ENST00000680162.2:c.1486C>T	ENSP00000506634.2:p.Gln496Ter
ENST00000680355.1:c.1261C>T	ENSP00000506257.1:p.Gln421Ter
ENST00000680557.1:c.604-13083C>T	ENSP00000505164.1:n.604-13083C>T
ENST00000680701.1:n.570C>T
ENST00000680768.1:c.1495C>T	ENSP00000506359.1:p.Gln499Ter
ENST00000680768.2:c.1552C>T	ENSP00000506359.2:p.Gln518Ter
ENST00000680961.1:c.*758C>T	ENSP00000506386.1:n.*758C>T
ENST00000681026.1:c.457C>T	ENSP00000506689.1:p.Gln153Ter
ENST00000681153.1:c.1552C>T	ENSP00000505124.1:p.Gln518Ter
ENST00000681989.1:n.1593C>T
ENST00000682207.1:n.915C>T
ENST00000682238.1:c.3085C>T	ENSP00000508124.1:p.Gln1029Ter
ENST00000682322.1:c.1486C>T	ENSP00000507690.1:p.Gln496Ter
ENST00000682600.1:c.1552C>T	ENSP00000507640.1:p.Gln518Ter
ENST00000682769.1:n.1387C>T
ENST00000683503.1:n.2610C>T
ENST00000683509.1:n.2273C>T
ENST00000683675.1:n.1894C>T
ENST00000683709.1:n.2274C>T
ENST00000683957.1:n.4248C>T
ENST00000683995.1:n.940C>T
ENST00000684072.1:n.1024C>T
ENST00000684103.1:n.1203C>T
ENST00000684130.1:c.3376C>T	ENSP00000508037.1:p.Gln1126Ter
ENST00000684342.1:n.1839C>T
ENST00000684350.1:n.2610C>T
XM_006724468.2:c.10795C>T	XP_006724531.1:p.Gln3599Ter
XM_006724469.2:c.10771C>T	XP_006724532.1:p.Gln3591Ter
XM_006724469.3:c.10771C>T	XP_006724532.1:p.Gln3591Ter
XM_006724470.2:c.10756C>T	XP_006724533.1:p.Gln3586Ter
XM_006724470.3:c.10756C>T	XP_006724533.1:p.Gln3586Ter
XM_006724471.2:c.10690C>T	XP_006724534.1:p.Gln3564Ter
XM_006724472.2:c.10666C>T	XP_006724535.1:p.Gln3556Ter
XM_006724473.2:c.10657C>T	XP_006724536.1:p.Gln3553Ter
XM_006724474.2:c.10465C>T	XP_006724537.1:p.Gln3489Ter
XM_006724474.3:c.10465C>T	XP_006724537.1:p.Gln3489Ter
XM_006724475.2:c.10465C>T	XP_006724538.1:p.Gln3489Ter
XM_011545467.1:c.10672C>T	XP_011543769.1:p.Gln3558Ter
XM_017029328.1:c.10756C>T	XP_016884817.1:p.Gln3586Ter
XM_017029331.1:c.4969C>T	XP_016884820.1:p.Gln1657Ter