Canonical Allele Identifier: CA273070

Gene: DMD

Linked Data

• ClinVar Variation Id: 11273
• ClinVar RCV Id: RCV000437942 ; RCV000985010 ; RCV001813973 ; RCV001835626 ; RCV002287331 ; RCV000012024
• dbSNP Id: rs104894790
• COSMIC: COSM1203824 ; COSM1203825 ; COSM1203826 ; COSM1203827 ; COSM1203828 ; COSM1203829
• MyVariant Identifiers: chrX:g.31196868G>A (hg19) ; chrX:g.31178751G>A (hg38)
• PubMed: PMID:7668256 ; PMID:8281150 ; PMID:8301652 ; PMID:10320864 ; PMID:10533061 ; PMID:17145200 ; PMID:19409785 ; PMID:19783145 ; PMID:19937601

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31178751G>A , CM000685.2:g.31178751G>A	GRCh38
NC_000023.10:g.31196868G>A , CM000685.1:g.31196868G>A	GRCh37
NC_000023.9:g.31106789G>A	NCBI36
NG_012232.1:g.2165859C>T , LRG_199:g.2165859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4987C>T	ENSP00000350765.3:p.Arg1663Ter
ENST00000475732.3:n.2488C>T
ENST00000680162.2:c.937C>T	ENSP00000506634.2:p.Arg313Ter
ENST00000680768.2:c.937C>T	ENSP00000506359.2:p.Arg313Ter
ENST00000681989.1:n.939C>T
ENST00000682238.1:c.2761C>T	ENSP00000508124.1:p.Arg921Ter
ENST00000682322.1:c.937C>T	ENSP00000507690.1:p.Arg313Ter
ENST00000682600.1:c.937C>T	ENSP00000507640.1:p.Arg313Ter
ENST00000682769.1:n.772C>T
ENST00000683509.1:n.1658C>T
ENST00000683675.1:n.1240C>T
ENST00000683709.1:n.1659C>T
ENST00000683957.1:n.3633C>T
ENST00000684130.1:c.2761C>T	ENSP00000508037.1:p.Arg921Ter
ENST00000343523.7:c.1996C>T	ENSP00000340057.4:p.Arg666Ter
ENST00000357033.9:c.10141C>T MANE Select	ENSP00000354923.3:p.Arg3381Ter
ENST00000475732.2:n.507C>T
ENST00000619831.5:c.6109C>T	ENSP00000479270.2:p.Arg2037Ter
ENST00000620040.5:c.2761C>T	ENSP00000478150.2:p.Arg921Ter
ENST00000679641.1:c.*143C>T	ENSP00000506135.1:n.*143C>T
ENST00000679706.1:c.98C>T
ENST00000680162.1:c.814C>T	ENSP00000506634.1:p.Arg272Ter
ENST00000680355.1:c.937C>T	ENSP00000506257.1:p.Arg313Ter
ENST00000680557.1:c.603+25210C>T	ENSP00000505164.1:n.603+25210C>T
ENST00000680768.1:c.880C>T	ENSP00000506359.1:p.Arg294Ter
ENST00000680961.1:c.*143C>T	ENSP00000506386.1:n.*143C>T
ENST00000681153.1:c.937C>T	ENSP00000505124.1:p.Arg313Ter
ENST00000681654.1:n.1071C>T
ENST00000343523.6:c.1954C>T	ENSP00000340057.3:p.Arg652Ter
ENST00000357033.8:c.10141C>T	ENSP00000354923.3:p.Arg3381Ter
ENST00000358062.6:c.3229C>T	ENSP00000350765.2:p.Arg1077Ter
ENST00000359836.5:c.2761C>T	ENSP00000352894.1:p.Arg921Ter
ENST00000361471.8:c.937C>T	ENSP00000354464.4:p.Arg313Ter
ENST00000378677.6:c.10129C>T	ENSP00000367948.2:p.Arg3377Ter
ENST00000378680.6:c.937C>T	ENSP00000367951.2:p.Arg313Ter
ENST00000378702.8:c.937C>T	ENSP00000367974.4:p.Arg313Ter
ENST00000378705.3:c.511C>T	ENSP00000367977.3:p.Arg171Ter
ENST00000378707.7:c.2761C>T	ENSP00000367979.3:p.Arg921Ter
ENST00000378723.7:c.937C>T	ENSP00000367997.3:p.Arg313Ter
ENST00000474231.5:c.2761C>T	ENSP00000417123.1:p.Arg921Ter
ENST00000475732.1:n.357C>T
ENST00000541735.5:c.2761C>T	ENSP00000444119.1:p.Arg921Ter
ENST00000619831.4:c.10126C>T	ENSP00000479270.1:p.Arg3376Ter
ENST00000620040.4:c.10138C>T	ENSP00000478150.1:p.Arg3380Ter
NM_000109.3:c.10117C>T	NP_000100.2:p.Arg3373Ter
NM_004006.2:c.10141C>T , LRG_199t1:c.10141C>T	NP_003997.1:p.Arg3381Ter
NM_004009.3:c.10129C>T	NP_004000.1:p.Arg3377Ter
NM_004010.3:c.9772C>T	NP_004001.1:p.Arg3258Ter
NM_004011.3:c.6118C>T	NP_004002.2:p.Arg2040Ter
NM_004012.3:c.6109C>T	NP_004003.1:p.Arg2037Ter
NM_004013.2:c.2761C>T	NP_004004.1:p.Arg921Ter
NM_004014.2:c.1954C>T	NP_004005.1:p.Arg652Ter
NM_004015.2:c.937C>T	NP_004006.1:p.Arg313Ter
NM_004016.2:c.937C>T	NP_004007.1:p.Arg313Ter
NM_004017.2:c.937C>T	NP_004008.1:p.Arg313Ter
NM_004018.2:c.937C>T	NP_004009.1:p.Arg313Ter
NM_004019.2:c.937C>T	NP_004010.1:p.Arg313Ter
NM_004020.3:c.2761C>T	NP_004011.2:p.Arg921Ter
NM_004021.2:c.2761C>T	NP_004012.1:p.Arg921Ter
NM_004022.2:c.2761C>T	NP_004013.1:p.Arg921Ter
NM_004023.2:c.2761C>T	NP_004014.1:p.Arg921Ter
XM_006724468.2:c.10141C>T	XP_006724531.1:p.Arg3381Ter
XM_006724469.2:c.10117C>T	XP_006724532.1:p.Arg3373Ter
XM_006724470.2:c.10141C>T	XP_006724533.1:p.Arg3381Ter
XM_006724471.2:c.10141C>T	XP_006724534.1:p.Arg3381Ter
XM_006724472.2:c.10012C>T	XP_006724535.1:p.Arg3338Ter
XM_006724473.2:c.10003C>T	XP_006724536.1:p.Arg3335Ter
XM_006724474.2:c.10141C>T	XP_006724537.1:p.Arg3381Ter
XM_006724475.2:c.10141C>T	XP_006724538.1:p.Arg3381Ter
XM_011545467.1:c.10018C>T	XP_011543769.1:p.Arg3340Ter
XM_006724469.3:c.10117C>T	XP_006724532.1:p.Arg3373Ter
XM_006724470.3:c.10141C>T	XP_006724533.1:p.Arg3381Ter
XM_006724474.3:c.10141C>T	XP_006724537.1:p.Arg3381Ter
XM_017029328.1:c.10141C>T	XP_016884817.1:p.Arg3381Ter
XM_017029331.1:c.4315C>T	XP_016884820.1:p.Arg1439Ter
NM_000109.4:c.10117C>T	NP_000100.3:p.Arg3373Ter
NM_004006.3:c.10141C>T MANE Select	NP_003997.2:p.Arg3381Ter
NM_004011.4:c.6118C>T	NP_004002.3:p.Arg2040Ter
NM_004012.4:c.6109C>T	NP_004003.2:p.Arg2037Ter
NM_004015.3:c.937C>T	NP_004006.1:p.Arg313Ter
NM_004016.3:c.937C>T	NP_004007.1:p.Arg313Ter
NM_004017.3:c.937C>T	NP_004008.1:p.Arg313Ter
NM_004018.3:c.937C>T	NP_004009.1:p.Arg313Ter
NM_004019.3:c.937C>T	NP_004010.1:p.Arg313Ter
NM_004021.3:c.2761C>T	NP_004012.2:p.Arg921Ter
NM_004023.3:c.2761C>T	NP_004014.2:p.Arg921Ter
NM_004013.3:c.2761C>T	NP_004004.2:p.Arg921Ter
NM_004014.3:c.1954C>T	NP_004005.2:p.Arg652Ter
NM_004020.4:c.2761C>T	NP_004011.3:p.Arg921Ter
NM_004022.3:c.2761C>T	NP_004013.2:p.Arg921Ter