Canonical Allele Identifier: CA412659158

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31792288A>C (hg19) ; chrX:g.31774171A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774171A>C , CM000685.2:g.31774171A>C	GRCh38
NC_000023.10:g.31792288A>C , CM000685.1:g.31792288A>C	GRCh37
NC_000023.9:g.31702209A>C	NCBI36
NG_012232.1:g.1570439T>G , LRG_199:g.1570439T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2177T>G	ENSP00000350765.3:p.Leu726Arg
ENST00000682238.1:c.-50T>G	ENSP00000508124.1:n.-50T>G
ENST00000683117.1:n.992T>G
ENST00000683450.1:n.914T>G
ENST00000683851.1:n.992T>G
ENST00000683957.1:n.823T>G
ENST00000684130.1:c.-50T>G	ENSP00000508037.1:n.-50T>G
ENST00000357033.9:c.7331T>G MANE Select	ENSP00000354923.3:p.Leu2444Arg
ENST00000619831.5:c.3299T>G	ENSP00000479270.2:p.Leu1100Arg
ENST00000620040.5:c.-50T>G	ENSP00000478150.2:n.-50T>G
ENST00000680961.1:c.-50T>G	ENSP00000506386.1:n.-50T>G
ENST00000681646.1:n.992T>G
ENST00000681839.1:c.320T>G	ENSP00000505228.1:p.Leu107Arg
ENST00000357033.8:c.7331T>G	ENSP00000354923.3:p.Leu2444Arg
ENST00000358062.6:c.419T>G	ENSP00000350765.2:p.Leu140Arg
ENST00000359836.5:c.-50T>G	ENSP00000352894.1:n.-50T>G
ENST00000378677.6:c.7319T>G	ENSP00000367948.2:p.Leu2440Arg
ENST00000378707.7:c.-50T>G	ENSP00000367979.3:n.-50T>G
ENST00000471779.1:c.88T>G	ENSP00000417075.1:p.Trp30Gly
ENST00000474231.5:c.-50T>G	ENSP00000417123.1:n.-50T>G
ENST00000541735.5:c.-50T>G	ENSP00000444119.1:n.-50T>G
ENST00000619831.4:c.7316T>G	ENSP00000479270.1:p.Leu2439Arg
ENST00000620040.4:c.7328T>G	ENSP00000478150.1:p.Leu2443Arg
NM_000109.3:c.7307T>G	NP_000100.2:p.Leu2436Arg
NM_004006.2:c.7331T>G , LRG_199t1:c.7331T>G	NP_003997.1:p.Leu2444Arg
NM_004009.3:c.7319T>G	NP_004000.1:p.Leu2440Arg
NM_004010.3:c.6962T>G	NP_004001.1:p.Leu2321Arg
NM_004011.3:c.3308T>G	NP_004002.2:p.Leu1103Arg
NM_004012.3:c.3299T>G	NP_004003.1:p.Leu1100Arg
NM_004013.2:c.-50T>G	NP_004004.1:n.-50T>G
NM_004020.3:c.-50T>G	NP_004011.2:n.-50T>G
NM_004021.2:c.-50T>G	NP_004012.1:n.-50T>G
NM_004022.2:c.-50T>G	NP_004013.1:n.-50T>G
NM_004023.2:c.-50T>G	NP_004014.1:n.-50T>G
XM_006724468.2:c.7331T>G	XP_006724531.1:p.Leu2444Arg
XM_006724469.2:c.7307T>G	XP_006724532.1:p.Leu2436Arg
XM_006724470.2:c.7331T>G	XP_006724533.1:p.Leu2444Arg
XM_006724471.2:c.7331T>G	XP_006724534.1:p.Leu2444Arg
XM_006724472.2:c.7202T>G	XP_006724535.1:p.Leu2401Arg
XM_006724473.2:c.7193T>G	XP_006724536.1:p.Leu2398Arg
XM_006724474.2:c.7331T>G	XP_006724537.1:p.Leu2444Arg
XM_006724475.2:c.7331T>G	XP_006724538.1:p.Leu2444Arg
XM_011545467.1:c.7208T>G	XP_011543769.1:p.Leu2403Arg
XM_011545468.1:c.7331T>G	XP_011543770.1:p.Leu2444Arg
XM_006724469.3:c.7307T>G	XP_006724532.1:p.Leu2436Arg
XM_006724470.3:c.7331T>G	XP_006724533.1:p.Leu2444Arg
XM_006724474.3:c.7331T>G	XP_006724537.1:p.Leu2444Arg
XM_011545468.2:c.7331T>G	XP_011543770.1:p.Leu2444Arg
XM_017029328.1:c.7331T>G	XP_016884817.1:p.Leu2444Arg
XM_017029331.1:c.1505T>G	XP_016884820.1:p.Leu502Arg
NM_000109.4:c.7307T>G	NP_000100.3:p.Leu2436Arg
NM_004006.3:c.7331T>G MANE Select	NP_003997.2:p.Leu2444Arg
NM_004011.4:c.3308T>G	NP_004002.3:p.Leu1103Arg
NM_004012.4:c.3299T>G	NP_004003.2:p.Leu1100Arg
NM_004021.3:c.-50T>G	NP_004012.2:n.-50T>G
NM_004023.3:c.-50T>G	NP_004014.2:n.-50T>G
NM_004013.3:c.-50T>G	NP_004004.2:n.-50T>G
NM_004020.4:c.-50T>G	NP_004011.3:n.-50T>G
NM_004022.3:c.-50T>G	NP_004013.2:n.-50T>G