Canonical Allele Identifier: CA10605939

Gene: DMD

Linked Data

• ClinVar Variation Id: 288005
• ClinVar RCV Id: RCV000307173
• dbSNP Id: rs886043781
• MyVariant Identifiers: chrX:g.31196862T>G (hg19) ; chrX:g.31178745T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31178745T>G , CM000685.2:g.31178745T>G	GRCh38
NC_000023.10:g.31196862T>G , CM000685.1:g.31196862T>G	GRCh37
NC_000023.9:g.31106783T>G	NCBI36
NG_012232.1:g.2165865A>C , LRG_199:g.2165865A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4993A>C	ENSP00000350765.3:p.Lys1665Gln
ENST00000475732.3:n.2494A>C
ENST00000680162.2:c.943A>C	ENSP00000506634.2:p.Lys315Gln
ENST00000680768.2:c.943A>C	ENSP00000506359.2:p.Lys315Gln
ENST00000681989.1:n.945A>C
ENST00000682238.1:c.2767A>C	ENSP00000508124.1:p.Lys923Gln
ENST00000682322.1:c.943A>C	ENSP00000507690.1:p.Lys315Gln
ENST00000682600.1:c.943A>C	ENSP00000507640.1:p.Lys315Gln
ENST00000682769.1:n.778A>C
ENST00000683509.1:n.1664A>C
ENST00000683675.1:n.1246A>C
ENST00000683709.1:n.1665A>C
ENST00000683957.1:n.3639A>C
ENST00000684130.1:c.2767A>C	ENSP00000508037.1:p.Lys923Gln
ENST00000343523.7:c.2002A>C	ENSP00000340057.4:p.Lys668Gln
ENST00000357033.9:c.10147A>C MANE Select	ENSP00000354923.3:p.Lys3383Gln
ENST00000475732.2:n.513A>C
ENST00000619831.5:c.6115A>C	ENSP00000479270.2:p.Lys2039Gln
ENST00000620040.5:c.2767A>C	ENSP00000478150.2:p.Lys923Gln
ENST00000679641.1:c.*149A>C	ENSP00000506135.1:n.*149A>C
ENST00000679706.1:c.104A>C
ENST00000680162.1:c.820A>C	ENSP00000506634.1:p.Lys274Gln
ENST00000680355.1:c.943A>C	ENSP00000506257.1:p.Lys315Gln
ENST00000680557.1:c.603+25216A>C	ENSP00000505164.1:n.603+25216A>C
ENST00000680768.1:c.886A>C	ENSP00000506359.1:p.Lys296Gln
ENST00000680961.1:c.*149A>C	ENSP00000506386.1:n.*149A>C
ENST00000681153.1:c.943A>C	ENSP00000505124.1:p.Lys315Gln
ENST00000681654.1:n.1077A>C
ENST00000343523.6:c.1960A>C	ENSP00000340057.3:p.Lys654Gln
ENST00000357033.8:c.10147A>C	ENSP00000354923.3:p.Lys3383Gln
ENST00000358062.6:c.3235A>C	ENSP00000350765.2:p.Lys1079Gln
ENST00000359836.5:c.2767A>C	ENSP00000352894.1:p.Lys923Gln
ENST00000361471.8:c.943A>C	ENSP00000354464.4:p.Lys315Gln
ENST00000378677.6:c.10135A>C	ENSP00000367948.2:p.Lys3379Gln
ENST00000378680.6:c.943A>C	ENSP00000367951.2:p.Lys315Gln
ENST00000378702.8:c.943A>C	ENSP00000367974.4:p.Lys315Gln
ENST00000378705.3:c.517A>C	ENSP00000367977.3:p.Lys173Gln
ENST00000378707.7:c.2767A>C	ENSP00000367979.3:p.Lys923Gln
ENST00000378723.7:c.943A>C	ENSP00000367997.3:p.Lys315Gln
ENST00000474231.5:c.2767A>C	ENSP00000417123.1:p.Lys923Gln
ENST00000475732.1:n.363A>C
ENST00000541735.5:c.2767A>C	ENSP00000444119.1:p.Lys923Gln
ENST00000619831.4:c.10132A>C	ENSP00000479270.1:p.Lys3378Gln
ENST00000620040.4:c.10144A>C	ENSP00000478150.1:p.Lys3382Gln
NM_000109.3:c.10123A>C	NP_000100.2:p.Lys3375Gln
NM_004006.2:c.10147A>C , LRG_199t1:c.10147A>C	NP_003997.1:p.Lys3383Gln
NM_004009.3:c.10135A>C	NP_004000.1:p.Lys3379Gln
NM_004010.3:c.9778A>C	NP_004001.1:p.Lys3260Gln
NM_004011.3:c.6124A>C	NP_004002.2:p.Lys2042Gln
NM_004012.3:c.6115A>C	NP_004003.1:p.Lys2039Gln
NM_004013.2:c.2767A>C	NP_004004.1:p.Lys923Gln
NM_004014.2:c.1960A>C	NP_004005.1:p.Lys654Gln
NM_004015.2:c.943A>C	NP_004006.1:p.Lys315Gln
NM_004016.2:c.943A>C	NP_004007.1:p.Lys315Gln
NM_004017.2:c.943A>C	NP_004008.1:p.Lys315Gln
NM_004018.2:c.943A>C	NP_004009.1:p.Lys315Gln
NM_004019.2:c.943A>C	NP_004010.1:p.Lys315Gln
NM_004020.3:c.2767A>C	NP_004011.2:p.Lys923Gln
NM_004021.2:c.2767A>C	NP_004012.1:p.Lys923Gln
NM_004022.2:c.2767A>C	NP_004013.1:p.Lys923Gln
NM_004023.2:c.2767A>C	NP_004014.1:p.Lys923Gln
XM_006724468.2:c.10147A>C	XP_006724531.1:p.Lys3383Gln
XM_006724469.2:c.10123A>C	XP_006724532.1:p.Lys3375Gln
XM_006724470.2:c.10147A>C	XP_006724533.1:p.Lys3383Gln
XM_006724471.2:c.10147A>C	XP_006724534.1:p.Lys3383Gln
XM_006724472.2:c.10018A>C	XP_006724535.1:p.Lys3340Gln
XM_006724473.2:c.10009A>C	XP_006724536.1:p.Lys3337Gln
XM_006724474.2:c.10147A>C	XP_006724537.1:p.Lys3383Gln
XM_006724475.2:c.10147A>C	XP_006724538.1:p.Lys3383Gln
XM_011545467.1:c.10024A>C	XP_011543769.1:p.Lys3342Gln
XM_006724469.3:c.10123A>C	XP_006724532.1:p.Lys3375Gln
XM_006724470.3:c.10147A>C	XP_006724533.1:p.Lys3383Gln
XM_006724474.3:c.10147A>C	XP_006724537.1:p.Lys3383Gln
XM_017029328.1:c.10147A>C	XP_016884817.1:p.Lys3383Gln
XM_017029331.1:c.4321A>C	XP_016884820.1:p.Lys1441Gln
NM_000109.4:c.10123A>C	NP_000100.3:p.Lys3375Gln
NM_004006.3:c.10147A>C MANE Select	NP_003997.2:p.Lys3383Gln
NM_004011.4:c.6124A>C	NP_004002.3:p.Lys2042Gln
NM_004012.4:c.6115A>C	NP_004003.2:p.Lys2039Gln
NM_004015.3:c.943A>C	NP_004006.1:p.Lys315Gln
NM_004016.3:c.943A>C	NP_004007.1:p.Lys315Gln
NM_004017.3:c.943A>C	NP_004008.1:p.Lys315Gln
NM_004018.3:c.943A>C	NP_004009.1:p.Lys315Gln
NM_004019.3:c.943A>C	NP_004010.1:p.Lys315Gln
NM_004021.3:c.2767A>C	NP_004012.2:p.Lys923Gln
NM_004023.3:c.2767A>C	NP_004014.2:p.Lys923Gln
NM_004013.3:c.2767A>C	NP_004004.2:p.Lys923Gln
NM_004014.3:c.1960A>C	NP_004005.2:p.Lys654Gln
NM_004020.4:c.2767A>C	NP_004011.3:p.Lys923Gln
NM_004022.3:c.2767A>C	NP_004013.2:p.Lys923Gln