Canonical Allele Identifier: CA412653216

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31198584T>C (hg19) ; chrX:g.31180467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31180467T>C , CM000685.2:g.31180467T>C	GRCh38
NC_000023.10:g.31198584T>C , CM000685.1:g.31198584T>C	GRCh37
NC_000023.9:g.31108505T>C	NCBI36
NG_012232.1:g.2164143A>G , LRG_199:g.2164143A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4835A>G	ENSP00000350765.3:p.Lys1612Arg
ENST00000475732.3:n.2336A>G
ENST00000680162.2:c.785A>G	ENSP00000506634.2:p.Lys262Arg
ENST00000680768.2:c.785A>G	ENSP00000506359.2:p.Lys262Arg
ENST00000681989.1:n.787A>G
ENST00000682238.1:c.2609A>G	ENSP00000508124.1:p.Lys870Arg
ENST00000682322.1:c.785A>G	ENSP00000507690.1:p.Lys262Arg
ENST00000682600.1:c.785A>G	ENSP00000507640.1:p.Lys262Arg
ENST00000682769.1:n.620A>G
ENST00000683509.1:n.1506A>G
ENST00000683675.1:n.1088A>G
ENST00000683709.1:n.1507A>G
ENST00000683957.1:n.3481A>G
ENST00000684130.1:c.2609A>G	ENSP00000508037.1:p.Lys870Arg
ENST00000343523.7:c.1844A>G	ENSP00000340057.4:p.Lys615Arg
ENST00000357033.9:c.9989A>G MANE Select	ENSP00000354923.3:p.Lys3330Arg
ENST00000475732.2:n.355A>G
ENST00000619831.5:c.5957A>G	ENSP00000479270.2:p.Lys1986Arg
ENST00000620040.5:c.2609A>G	ENSP00000478150.2:p.Lys870Arg
ENST00000679641.1:c.618A>G	ENSP00000506135.1:p.Lys206=
ENST00000680162.1:c.662A>G	ENSP00000506634.1:p.Lys221Arg
ENST00000680355.1:c.785A>G	ENSP00000506257.1:p.Lys262Arg
ENST00000680557.1:c.603+23494A>G	ENSP00000505164.1:n.603+23494A>G
ENST00000680768.1:c.728A>G	ENSP00000506359.1:p.Lys243Arg
ENST00000680961.1:c.2442A>G	ENSP00000506386.1:p.Lys814=
ENST00000681153.1:c.785A>G	ENSP00000505124.1:p.Lys262Arg
ENST00000681654.1:n.919A>G
ENST00000343523.6:c.1802A>G	ENSP00000340057.3:p.Lys601Arg
ENST00000357033.8:c.9989A>G	ENSP00000354923.3:p.Lys3330Arg
ENST00000358062.6:c.3077A>G	ENSP00000350765.2:p.Lys1026Arg
ENST00000359836.5:c.2609A>G	ENSP00000352894.1:p.Lys870Arg
ENST00000361471.8:c.785A>G	ENSP00000354464.4:p.Lys262Arg
ENST00000378677.6:c.9977A>G	ENSP00000367948.2:p.Lys3326Arg
ENST00000378680.6:c.785A>G	ENSP00000367951.2:p.Lys262Arg
ENST00000378702.8:c.785A>G	ENSP00000367974.4:p.Lys262Arg
ENST00000378705.3:c.359A>G	ENSP00000367977.3:p.Lys120Arg
ENST00000378707.7:c.2609A>G	ENSP00000367979.3:p.Lys870Arg
ENST00000378723.7:c.785A>G	ENSP00000367997.3:p.Lys262Arg
ENST00000474231.5:c.2609A>G	ENSP00000417123.1:p.Lys870Arg
ENST00000475732.1:n.205A>G
ENST00000541735.5:c.2609A>G	ENSP00000444119.1:p.Lys870Arg
ENST00000619831.4:c.9974A>G	ENSP00000479270.1:p.Lys3325Arg
ENST00000620040.4:c.9986A>G	ENSP00000478150.1:p.Lys3329Arg
NM_000109.3:c.9965A>G	NP_000100.2:p.Lys3322Arg
NM_004006.2:c.9989A>G , LRG_199t1:c.9989A>G	NP_003997.1:p.Lys3330Arg
NM_004009.3:c.9977A>G	NP_004000.1:p.Lys3326Arg
NM_004010.3:c.9620A>G	NP_004001.1:p.Lys3207Arg
NM_004011.3:c.5966A>G	NP_004002.2:p.Lys1989Arg
NM_004012.3:c.5957A>G	NP_004003.1:p.Lys1986Arg
NM_004013.2:c.2609A>G	NP_004004.1:p.Lys870Arg
NM_004014.2:c.1802A>G	NP_004005.1:p.Lys601Arg
NM_004015.2:c.785A>G	NP_004006.1:p.Lys262Arg
NM_004016.2:c.785A>G	NP_004007.1:p.Lys262Arg
NM_004017.2:c.785A>G	NP_004008.1:p.Lys262Arg
NM_004018.2:c.785A>G	NP_004009.1:p.Lys262Arg
NM_004019.2:c.785A>G	NP_004010.1:p.Lys262Arg
NM_004020.3:c.2609A>G	NP_004011.2:p.Lys870Arg
NM_004021.2:c.2609A>G	NP_004012.1:p.Lys870Arg
NM_004022.2:c.2609A>G	NP_004013.1:p.Lys870Arg
NM_004023.2:c.2609A>G	NP_004014.1:p.Lys870Arg
XM_006724468.2:c.9989A>G	XP_006724531.1:p.Lys3330Arg
XM_006724469.2:c.9965A>G	XP_006724532.1:p.Lys3322Arg
XM_006724470.2:c.9989A>G	XP_006724533.1:p.Lys3330Arg
XM_006724471.2:c.9989A>G	XP_006724534.1:p.Lys3330Arg
XM_006724472.2:c.9860A>G	XP_006724535.1:p.Lys3287Arg
XM_006724473.2:c.9851A>G	XP_006724536.1:p.Lys3284Arg
XM_006724474.2:c.9989A>G	XP_006724537.1:p.Lys3330Arg
XM_006724475.2:c.9989A>G	XP_006724538.1:p.Lys3330Arg
XM_011545467.1:c.9866A>G	XP_011543769.1:p.Lys3289Arg
XM_006724469.3:c.9965A>G	XP_006724532.1:p.Lys3322Arg
XM_006724470.3:c.9989A>G	XP_006724533.1:p.Lys3330Arg
XM_006724474.3:c.9989A>G	XP_006724537.1:p.Lys3330Arg
XM_017029328.1:c.9989A>G	XP_016884817.1:p.Lys3330Arg
XM_017029331.1:c.4163A>G	XP_016884820.1:p.Lys1388Arg
NM_000109.4:c.9965A>G	NP_000100.3:p.Lys3322Arg
NM_004006.3:c.9989A>G MANE Select	NP_003997.2:p.Lys3330Arg
NM_004011.4:c.5966A>G	NP_004002.3:p.Lys1989Arg
NM_004012.4:c.5957A>G	NP_004003.2:p.Lys1986Arg
NM_004015.3:c.785A>G	NP_004006.1:p.Lys262Arg
NM_004016.3:c.785A>G	NP_004007.1:p.Lys262Arg
NM_004017.3:c.785A>G	NP_004008.1:p.Lys262Arg
NM_004018.3:c.785A>G	NP_004009.1:p.Lys262Arg
NM_004019.3:c.785A>G	NP_004010.1:p.Lys262Arg
NM_004021.3:c.2609A>G	NP_004012.2:p.Lys870Arg
NM_004023.3:c.2609A>G	NP_004014.2:p.Lys870Arg
NM_004013.3:c.2609A>G	NP_004004.2:p.Lys870Arg
NM_004014.3:c.1802A>G	NP_004005.2:p.Lys601Arg
NM_004020.4:c.2609A>G	NP_004011.3:p.Lys870Arg
NM_004022.3:c.2609A>G	NP_004013.2:p.Lys870Arg