Canonical Allele Identifier: CA10378334

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31836791T>A , CM000685.2:g.31836791T>A	GRCh38
NC_000023.10:g.31854908T>A , CM000685.1:g.31854908T>A	GRCh37
NC_000023.9:g.31764829T>A	NCBI36
NG_012232.1:g.1507819A>T , LRG_199:g.1507819A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.7127A>T MANE Select	NP_003997.2:p.Gln2376Leu
ENST00000357033.9:c.7127A>T MANE Select	ENSP00000354923.3:p.Gln2376Leu
NM_000109.3:c.7103A>T	NP_000100.2:p.Gln2368Leu
NM_000109.4:c.7103A>T	NP_000100.3:p.Gln2368Leu
NM_004006.2:c.7127A>T , LRG_199t1:c.7127A>T	NP_003997.1:p.Gln2376Leu
NM_004009.3:c.7115A>T	NP_004000.1:p.Gln2372Leu
NM_004010.3:c.6758A>T	NP_004001.1:p.Gln2253Leu
NM_004011.3:c.3104A>T	NP_004002.2:p.Gln1035Leu
NM_004011.4:c.3104A>T	NP_004002.3:p.Gln1035Leu
NM_004012.3:c.3095A>T	NP_004003.1:p.Gln1032Leu
NM_004012.4:c.3095A>T	NP_004003.2:p.Gln1032Leu
NM_004013.2:c.-254A>T	NP_004004.1:n.-254A>T
NM_004013.3:c.-254A>T	NP_004004.2:n.-254A>T
NM_004020.3:c.-254A>T	NP_004011.2:n.-254A>T
NM_004020.4:c.-254A>T	NP_004011.3:n.-254A>T
NM_004021.2:c.-254A>T	NP_004012.1:n.-254A>T
NM_004021.3:c.-254A>T	NP_004012.2:n.-254A>T
NM_004022.2:c.-254A>T	NP_004013.1:n.-254A>T
NM_004022.3:c.-254A>T	NP_004013.2:n.-254A>T
NM_004023.2:c.-254A>T	NP_004014.1:n.-254A>T
NM_004023.3:c.-254A>T	NP_004014.2:n.-254A>T
ENST00000357033.8:c.7127A>T	ENSP00000354923.3:p.Gln2376Leu
ENST00000358062.6:c.215A>T	ENSP00000350765.2:p.Gln72Leu
ENST00000358062.7:c.1973A>T	ENSP00000350765.3:p.Gln658Leu
ENST00000359836.5:c.-254A>T	ENSP00000352894.1:n.-254A>T
ENST00000378677.6:c.7115A>T	ENSP00000367948.2:p.Gln2372Leu
ENST00000378707.7:c.-254A>T	ENSP00000367979.3:n.-254A>T
ENST00000474231.5:c.-254A>T	ENSP00000417123.1:n.-254A>T
ENST00000541735.5:c.-254A>T	ENSP00000444119.1:n.-254A>T
ENST00000619831.4:c.7112A>T	ENSP00000479270.1:p.Gln2371Leu
ENST00000619831.5:c.3095A>T	ENSP00000479270.2:p.Gln1032Leu
ENST00000620040.4:c.7124A>T	ENSP00000478150.1:p.Gln2375Leu
ENST00000620040.5:c.-254A>T	ENSP00000478150.2:n.-254A>T
ENST00000680961.1:c.-254A>T	ENSP00000506386.1:n.-254A>T
ENST00000681646.1:n.788A>T
ENST00000681839.1:c.116A>T	ENSP00000505228.1:p.Gln39Leu
ENST00000682238.1:c.-254A>T	ENSP00000508124.1:n.-254A>T
ENST00000683117.1:n.788A>T
ENST00000683450.1:n.710A>T
ENST00000683851.1:n.788A>T
ENST00000683957.1:n.619A>T
ENST00000684130.1:c.-254A>T	ENSP00000508037.1:n.-254A>T
XM_006724468.2:c.7127A>T	XP_006724531.1:p.Gln2376Leu
XM_006724469.2:c.7103A>T	XP_006724532.1:p.Gln2368Leu
XM_006724469.3:c.7103A>T	XP_006724532.1:p.Gln2368Leu
XM_006724470.2:c.7127A>T	XP_006724533.1:p.Gln2376Leu
XM_006724470.3:c.7127A>T	XP_006724533.1:p.Gln2376Leu
XM_006724471.2:c.7127A>T	XP_006724534.1:p.Gln2376Leu
XM_006724472.2:c.6998A>T	XP_006724535.1:p.Gln2333Leu
XM_006724473.2:c.6989A>T	XP_006724536.1:p.Gln2330Leu
XM_006724474.2:c.7127A>T	XP_006724537.1:p.Gln2376Leu
XM_006724474.3:c.7127A>T	XP_006724537.1:p.Gln2376Leu
XM_006724475.2:c.7127A>T	XP_006724538.1:p.Gln2376Leu
XM_011545467.1:c.7004A>T	XP_011543769.1:p.Gln2335Leu
XM_011545468.1:c.7127A>T	XP_011543770.1:p.Gln2376Leu
XM_011545468.2:c.7127A>T	XP_011543770.1:p.Gln2376Leu
XM_017029328.1:c.7127A>T	XP_016884817.1:p.Gln2376Leu
XM_017029331.1:c.1301A>T	XP_016884820.1:p.Gln434Leu