Canonical Allele Identifier: CA412648525

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31204025A>T , CM000685.2:g.31204025A>T	GRCh38
NC_000023.10:g.31222142A>T , CM000685.1:g.31222142A>T	GRCh37
NC_000023.9:g.31132063A>T	NCBI36
NG_012232.1:g.2140585T>A , LRG_199:g.2140585T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.9743T>A MANE Select	NP_003997.2:p.Leu3248Ter
ENST00000357033.9:c.9743T>A MANE Select	ENSP00000354923.3:p.Leu3248Ter
NM_000109.3:c.9719T>A	NP_000100.2:p.Leu3240Ter
NM_000109.4:c.9719T>A	NP_000100.3:p.Leu3240Ter
NM_004006.2:c.9743T>A , LRG_199t1:c.9743T>A	NP_003997.1:p.Leu3248Ter
NM_004009.3:c.9731T>A	NP_004000.1:p.Leu3244Ter
NM_004010.3:c.9374T>A	NP_004001.1:p.Leu3125Ter
NM_004011.3:c.5720T>A	NP_004002.2:p.Leu1907Ter
NM_004011.4:c.5720T>A	NP_004002.3:p.Leu1907Ter
NM_004012.3:c.5711T>A	NP_004003.1:p.Leu1904Ter
NM_004012.4:c.5711T>A	NP_004003.2:p.Leu1904Ter
NM_004013.2:c.2363T>A	NP_004004.1:p.Leu788Ter
NM_004013.3:c.2363T>A	NP_004004.2:p.Leu788Ter
NM_004014.2:c.1556T>A	NP_004005.1:p.Leu519Ter
NM_004014.3:c.1556T>A	NP_004005.2:p.Leu519Ter
NM_004015.2:c.539T>A	NP_004006.1:p.Leu180Ter
NM_004015.3:c.539T>A	NP_004006.1:p.Leu180Ter
NM_004016.2:c.539T>A	NP_004007.1:p.Leu180Ter
NM_004016.3:c.539T>A	NP_004007.1:p.Leu180Ter
NM_004017.2:c.539T>A	NP_004008.1:p.Leu180Ter
NM_004017.3:c.539T>A	NP_004008.1:p.Leu180Ter
NM_004018.2:c.539T>A	NP_004009.1:p.Leu180Ter
NM_004018.3:c.539T>A	NP_004009.1:p.Leu180Ter
NM_004019.2:c.539T>A	NP_004010.1:p.Leu180Ter
NM_004019.3:c.539T>A	NP_004010.1:p.Leu180Ter
NM_004020.3:c.2363T>A	NP_004011.2:p.Leu788Ter
NM_004020.4:c.2363T>A	NP_004011.3:p.Leu788Ter
NM_004021.2:c.2363T>A	NP_004012.1:p.Leu788Ter
NM_004021.3:c.2363T>A	NP_004012.2:p.Leu788Ter
NM_004022.2:c.2363T>A	NP_004013.1:p.Leu788Ter
NM_004022.3:c.2363T>A	NP_004013.2:p.Leu788Ter
NM_004023.2:c.2363T>A	NP_004014.1:p.Leu788Ter
NM_004023.3:c.2363T>A	NP_004014.2:p.Leu788Ter
ENST00000343523.6:c.1556T>A	ENSP00000340057.3:p.Leu519Ter
ENST00000343523.7:c.1598T>A	ENSP00000340057.4:p.Leu533Ter
ENST00000357033.8:c.9743T>A	ENSP00000354923.3:p.Leu3248Ter
ENST00000358062.6:c.2831T>A	ENSP00000350765.2:p.Leu944Ter
ENST00000358062.7:c.4589T>A	ENSP00000350765.3:p.Leu1530Ter
ENST00000359836.5:c.2363T>A	ENSP00000352894.1:p.Leu788Ter
ENST00000361471.8:c.539T>A	ENSP00000354464.4:p.Leu180Ter
ENST00000378677.6:c.9731T>A	ENSP00000367948.2:p.Leu3244Ter
ENST00000378680.6:c.539T>A	ENSP00000367951.2:p.Leu180Ter
ENST00000378702.8:c.539T>A	ENSP00000367974.4:p.Leu180Ter
ENST00000378705.3:c.113T>A	ENSP00000367977.3:p.Leu38Ter
ENST00000378707.7:c.2363T>A	ENSP00000367979.3:p.Leu788Ter
ENST00000378723.7:c.539T>A	ENSP00000367997.3:p.Leu180Ter
ENST00000474231.5:c.2363T>A	ENSP00000417123.1:p.Leu788Ter
ENST00000541735.5:c.2363T>A	ENSP00000444119.1:p.Leu788Ter
ENST00000619831.4:c.9728T>A	ENSP00000479270.1:p.Leu3243Ter
ENST00000619831.5:c.5711T>A	ENSP00000479270.2:p.Leu1904Ter
ENST00000620040.4:c.9740T>A	ENSP00000478150.1:p.Leu3247Ter
ENST00000620040.5:c.2363T>A	ENSP00000478150.2:p.Leu788Ter
ENST00000679641.1:c.539T>A	ENSP00000506135.1:p.Leu180Ter
ENST00000680162.1:c.416T>A	ENSP00000506634.1:p.Leu139Ter
ENST00000680162.2:c.539T>A	ENSP00000506634.2:p.Leu180Ter
ENST00000680355.1:c.539T>A	ENSP00000506257.1:p.Leu180Ter
ENST00000680557.1:c.539T>A	ENSP00000505164.1:p.Leu180Ter
ENST00000680768.1:c.482T>A	ENSP00000506359.1:p.Leu161Ter
ENST00000680768.2:c.539T>A	ENSP00000506359.2:p.Leu180Ter
ENST00000680961.1:c.2363T>A	ENSP00000506386.1:p.Leu788Ter
ENST00000681153.1:c.539T>A	ENSP00000505124.1:p.Leu180Ter
ENST00000681334.1:c.539T>A	ENSP00000506066.1:p.Leu180Ter
ENST00000681654.1:n.673T>A
ENST00000681989.1:n.541T>A
ENST00000682238.1:c.2363T>A	ENSP00000508124.1:p.Leu788Ter
ENST00000682322.1:c.539T>A	ENSP00000507690.1:p.Leu180Ter
ENST00000682600.1:c.539T>A	ENSP00000507640.1:p.Leu180Ter
ENST00000682769.1:n.541T>A
ENST00000683509.1:n.1260T>A
ENST00000683675.1:n.842T>A
ENST00000683709.1:n.1261T>A
ENST00000683957.1:n.3235T>A
ENST00000684130.1:c.2363T>A	ENSP00000508037.1:p.Leu788Ter
XM_006724468.2:c.9743T>A	XP_006724531.1:p.Leu3248Ter
XM_006724469.2:c.9719T>A	XP_006724532.1:p.Leu3240Ter
XM_006724469.3:c.9719T>A	XP_006724532.1:p.Leu3240Ter
XM_006724470.2:c.9743T>A	XP_006724533.1:p.Leu3248Ter
XM_006724470.3:c.9743T>A	XP_006724533.1:p.Leu3248Ter
XM_006724471.2:c.9743T>A	XP_006724534.1:p.Leu3248Ter
XM_006724472.2:c.9614T>A	XP_006724535.1:p.Leu3205Ter
XM_006724473.2:c.9605T>A	XP_006724536.1:p.Leu3202Ter
XM_006724474.2:c.9743T>A	XP_006724537.1:p.Leu3248Ter
XM_006724474.3:c.9743T>A	XP_006724537.1:p.Leu3248Ter
XM_006724475.2:c.9743T>A	XP_006724538.1:p.Leu3248Ter
XM_011545467.1:c.9620T>A	XP_011543769.1:p.Leu3207Ter
XM_011545468.1:c.9743T>A	XP_011543770.1:p.Leu3248Ter
XM_011545468.2:c.9743T>A	XP_011543770.1:p.Leu3248Ter
XM_017029328.1:c.9743T>A	XP_016884817.1:p.Leu3248Ter
XM_017029331.1:c.3917T>A	XP_016884820.1:p.Leu1306Ter