Canonical Allele Identifier: CA515858548

Gene: DMD

Linked Data

• ClinVar Variation Id: 2020811
• ClinVar RCV Id: RCV002857560
• MyVariant Identifiers: chrX:g.31279121T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31261004T>C , CM000685.2:g.31261004T>C	GRCh38
NC_000023.10:g.31279121T>C , CM000685.1:g.31279121T>C	GRCh37
NC_000023.9:g.31189042T>C	NCBI36
NG_012232.1:g.2083606A>G , LRG_199:g.2083606A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.4083A>G	ENSP00000350765.3:p.Gln1361=
ENST00000680162.2:c.33A>G	ENSP00000506634.2:p.Gln11=
ENST00000680768.2:c.33A>G	ENSP00000506359.2:p.Gln11=
ENST00000682238.1:c.1857A>G	ENSP00000508124.1:p.Gln619=
ENST00000682322.1:c.33A>G	ENSP00000507690.1:p.Gln11=
ENST00000682600.1:c.33A>G	ENSP00000507640.1:p.Gln11=
ENST00000683509.1:n.754A>G
ENST00000683675.1:n.336A>G
ENST00000683709.1:n.755A>G
ENST00000683957.1:n.2729A>G
ENST00000684130.1:c.1857A>G	ENSP00000508037.1:p.Gln619=
ENST00000343523.7:c.1092A>G	ENSP00000340057.4:p.Gln364=
ENST00000357033.9:c.9237A>G MANE Select	ENSP00000354923.3:p.Gln3079=
ENST00000619831.5:c.5205A>G	ENSP00000479270.2:p.Gln1735=
ENST00000620040.5:c.1857A>G	ENSP00000478150.2:p.Gln619=
ENST00000679641.1:c.33A>G	ENSP00000506135.1:p.Gln11=
ENST00000680216.1:c.13A>G
ENST00000680355.1:c.33A>G	ENSP00000506257.1:p.Gln11=
ENST00000680557.1:c.33A>G	ENSP00000505164.1:p.Gln11=
ENST00000680768.1:c.-25A>G	ENSP00000506359.1:n.-25A>G
ENST00000680961.1:c.1857A>G	ENSP00000506386.1:p.Gln619=
ENST00000681153.1:c.33A>G	ENSP00000505124.1:p.Gln11=
ENST00000681334.1:c.33A>G	ENSP00000506066.1:p.Gln11=
ENST00000681646.1:n.2898A>G
ENST00000681654.1:n.167A>G
ENST00000681870.1:c.33A>G	ENSP00000506709.1:p.Gln11=
ENST00000343523.6:c.1050A>G	ENSP00000340057.3:p.Gln350=
ENST00000357033.8:c.9237A>G	ENSP00000354923.3:p.Gln3079=
ENST00000358062.6:c.2325A>G	ENSP00000350765.2:p.Gln775=
ENST00000359836.5:c.1857A>G	ENSP00000352894.1:p.Gln619=
ENST00000361471.8:c.33A>G	ENSP00000354464.4:p.Gln11=
ENST00000378677.6:c.9225A>G	ENSP00000367948.2:p.Gln3075=
ENST00000378680.6:c.33A>G	ENSP00000367951.2:p.Gln11=
ENST00000378702.8:c.33A>G	ENSP00000367974.4:p.Gln11=
ENST00000378707.7:c.1857A>G	ENSP00000367979.3:p.Gln619=
ENST00000378723.7:c.33A>G	ENSP00000367997.3:p.Gln11=
ENST00000469142.1:n.256A>G
ENST00000474231.5:c.1857A>G	ENSP00000417123.1:p.Gln619=
ENST00000541735.5:c.1857A>G	ENSP00000444119.1:p.Gln619=
ENST00000619831.4:c.9222A>G	ENSP00000479270.1:p.Gln3074=
ENST00000620040.4:c.9234A>G	ENSP00000478150.1:p.Gln3078=
NM_000109.3:c.9213A>G	NP_000100.2:p.Gln3071=
NM_004006.2:c.9237A>G , LRG_199t1:c.9237A>G	NP_003997.1:p.Gln3079=
NM_004009.3:c.9225A>G	NP_004000.1:p.Gln3075=
NM_004010.3:c.8868A>G	NP_004001.1:p.Gln2956=
NM_004011.3:c.5214A>G	NP_004002.2:p.Gln1738=
NM_004012.3:c.5205A>G	NP_004003.1:p.Gln1735=
NM_004013.2:c.1857A>G	NP_004004.1:p.Gln619=
NM_004014.2:c.1050A>G	NP_004005.1:p.Gln350=
NM_004015.2:c.33A>G	NP_004006.1:p.Gln11=
NM_004016.2:c.33A>G	NP_004007.1:p.Gln11=
NM_004017.2:c.33A>G	NP_004008.1:p.Gln11=
NM_004018.2:c.33A>G	NP_004009.1:p.Gln11=
NM_004019.2:c.33A>G	NP_004010.1:p.Gln11=
NM_004020.3:c.1857A>G	NP_004011.2:p.Gln619=
NM_004021.2:c.1857A>G	NP_004012.1:p.Gln619=
NM_004022.2:c.1857A>G	NP_004013.1:p.Gln619=
NM_004023.2:c.1857A>G	NP_004014.1:p.Gln619=
XM_006724468.2:c.9237A>G	XP_006724531.1:p.Gln3079=
XM_006724469.2:c.9213A>G	XP_006724532.1:p.Gln3071=
XM_006724470.2:c.9237A>G	XP_006724533.1:p.Gln3079=
XM_006724471.2:c.9237A>G	XP_006724534.1:p.Gln3079=
XM_006724472.2:c.9108A>G	XP_006724535.1:p.Gln3036=
XM_006724473.2:c.9099A>G	XP_006724536.1:p.Gln3033=
XM_006724474.2:c.9237A>G	XP_006724537.1:p.Gln3079=
XM_006724475.2:c.9237A>G	XP_006724538.1:p.Gln3079=
XM_011545467.1:c.9114A>G	XP_011543769.1:p.Gln3038=
XM_011545468.1:c.9237A>G	XP_011543770.1:p.Gln3079=
XM_006724469.3:c.9213A>G	XP_006724532.1:p.Gln3071=
XM_006724470.3:c.9237A>G	XP_006724533.1:p.Gln3079=
XM_006724474.3:c.9237A>G	XP_006724537.1:p.Gln3079=
XM_011545468.2:c.9237A>G	XP_011543770.1:p.Gln3079=
XM_017029328.1:c.9237A>G	XP_016884817.1:p.Gln3079=
XM_017029331.1:c.3411A>G	XP_016884820.1:p.Gln1137=
NM_000109.4:c.9213A>G	NP_000100.3:p.Gln3071=
NM_004006.3:c.9237A>G MANE Select	NP_003997.2:p.Gln3079=
NM_004011.4:c.5214A>G	NP_004002.3:p.Gln1738=
NM_004012.4:c.5205A>G	NP_004003.2:p.Gln1735=
NM_004015.3:c.33A>G	NP_004006.1:p.Gln11=
NM_004016.3:c.33A>G	NP_004007.1:p.Gln11=
NM_004017.3:c.33A>G	NP_004008.1:p.Gln11=
NM_004018.3:c.33A>G	NP_004009.1:p.Gln11=
NM_004019.3:c.33A>G	NP_004010.1:p.Gln11=
NM_004021.3:c.1857A>G	NP_004012.2:p.Gln619=
NM_004023.3:c.1857A>G	NP_004014.2:p.Gln619=
NM_004013.3:c.1857A>G	NP_004004.2:p.Gln619=
NM_004014.3:c.1050A>G	NP_004005.2:p.Gln350=
NM_004020.4:c.1857A>G	NP_004011.3:p.Gln619=
NM_004022.3:c.1857A>G	NP_004013.2:p.Gln619=