Canonical Allele Identifier: CA412655405

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31496811G>A , CM000685.2:g.31496811G>A	GRCh38
NC_000023.10:g.31514928G>A , CM000685.1:g.31514928G>A	GRCh37
NC_000023.9:g.31424849G>A	NCBI36
NG_012232.1:g.1847799C>T , LRG_199:g.1847799C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3370C>T	ENSP00000350765.3:p.Gln1124Ter
ENST00000682238.1:c.1144C>T	ENSP00000508124.1:p.Gln382Ter
ENST00000683450.1:n.1989C>T
ENST00000683957.1:n.2016C>T
ENST00000684130.1:c.1144C>T	ENSP00000508037.1:p.Gln382Ter
ENST00000343523.7:c.379C>T	ENSP00000340057.4:p.Gln127Ter
ENST00000357033.9:c.8524C>T MANE Select	ENSP00000354923.3:p.Gln2842Ter
ENST00000619831.5:c.4492C>T	ENSP00000479270.2:p.Gln1498Ter
ENST00000620040.5:c.1144C>T	ENSP00000478150.2:p.Gln382Ter
ENST00000680961.1:c.1144C>T	ENSP00000506386.1:p.Gln382Ter
ENST00000681646.1:n.2185C>T
ENST00000343523.6:c.337C>T	ENSP00000340057.3:p.Gln113Ter
ENST00000357033.8:c.8524C>T	ENSP00000354923.3:p.Gln2842Ter
ENST00000358062.6:c.1612C>T	ENSP00000350765.2:p.Gln538Ter
ENST00000359836.5:c.1144C>T	ENSP00000352894.1:p.Gln382Ter
ENST00000378677.6:c.8512C>T	ENSP00000367948.2:p.Gln2838Ter
ENST00000378707.7:c.1144C>T	ENSP00000367979.3:p.Gln382Ter
ENST00000445312.1:n.581C>T
ENST00000474231.5:c.1144C>T	ENSP00000417123.1:p.Gln382Ter
ENST00000541735.5:c.1144C>T	ENSP00000444119.1:p.Gln382Ter
ENST00000619831.4:c.8509C>T	ENSP00000479270.1:p.Gln2837Ter
ENST00000620040.4:c.8521C>T	ENSP00000478150.1:p.Gln2841Ter
NM_000109.3:c.8500C>T	NP_000100.2:p.Gln2834Ter
NM_004006.2:c.8524C>T , LRG_199t1:c.8524C>T	NP_003997.1:p.Gln2842Ter
NM_004009.3:c.8512C>T	NP_004000.1:p.Gln2838Ter
NM_004010.3:c.8155C>T	NP_004001.1:p.Gln2719Ter
NM_004011.3:c.4501C>T	NP_004002.2:p.Gln1501Ter
NM_004012.3:c.4492C>T	NP_004003.1:p.Gln1498Ter
NM_004013.2:c.1144C>T	NP_004004.1:p.Gln382Ter
NM_004014.2:c.337C>T	NP_004005.1:p.Gln113Ter
NM_004020.3:c.1144C>T	NP_004011.2:p.Gln382Ter
NM_004021.2:c.1144C>T	NP_004012.1:p.Gln382Ter
NM_004022.2:c.1144C>T	NP_004013.1:p.Gln382Ter
NM_004023.2:c.1144C>T	NP_004014.1:p.Gln382Ter
XM_006724468.2:c.8524C>T	XP_006724531.1:p.Gln2842Ter
XM_006724469.2:c.8500C>T	XP_006724532.1:p.Gln2834Ter
XM_006724470.2:c.8524C>T	XP_006724533.1:p.Gln2842Ter
XM_006724471.2:c.8524C>T	XP_006724534.1:p.Gln2842Ter
XM_006724472.2:c.8395C>T	XP_006724535.1:p.Gln2799Ter
XM_006724473.2:c.8386C>T	XP_006724536.1:p.Gln2796Ter
XM_006724474.2:c.8524C>T	XP_006724537.1:p.Gln2842Ter
XM_006724475.2:c.8524C>T	XP_006724538.1:p.Gln2842Ter
XM_011545467.1:c.8401C>T	XP_011543769.1:p.Gln2801Ter
XM_011545468.1:c.8524C>T	XP_011543770.1:p.Gln2842Ter
XM_006724469.3:c.8500C>T	XP_006724532.1:p.Gln2834Ter
XM_006724470.3:c.8524C>T	XP_006724533.1:p.Gln2842Ter
XM_006724474.3:c.8524C>T	XP_006724537.1:p.Gln2842Ter
XM_011545468.2:c.8524C>T	XP_011543770.1:p.Gln2842Ter
XM_017029328.1:c.8524C>T	XP_016884817.1:p.Gln2842Ter
XM_017029331.1:c.2698C>T	XP_016884820.1:p.Gln900Ter
NM_000109.4:c.8500C>T	NP_000100.3:p.Gln2834Ter
NM_004006.3:c.8524C>T MANE Select	NP_003997.2:p.Gln2842Ter
NM_004011.4:c.4501C>T	NP_004002.3:p.Gln1501Ter
NM_004012.4:c.4492C>T	NP_004003.2:p.Gln1498Ter
NM_004021.3:c.1144C>T	NP_004012.2:p.Gln382Ter
NM_004023.3:c.1144C>T	NP_004014.2:p.Gln382Ter
NM_004013.3:c.1144C>T	NP_004004.2:p.Gln382Ter
NM_004014.3:c.337C>T	NP_004005.2:p.Gln113Ter
NM_004020.4:c.1144C>T	NP_004011.3:p.Gln382Ter
NM_004022.3:c.1144C>T	NP_004013.2:p.Gln382Ter