Canonical Allele Identifier: CA347551

Gene: DMD

Linked Data

• ClinVar Variation Id: 217172
• ClinVar RCV Id: RCV000201125
• dbSNP Id: rs398123834
• MyVariant Identifiers: chrX:g.31196785C>G (hg19) ; chrX:g.31178668C>G (hg38)
• PubMed: PMID:9143930 ; PMID:10196701

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31178668C>G , CM000685.2:g.31178668C>G	GRCh38
NC_000023.10:g.31196785C>G , CM000685.1:g.31196785C>G	GRCh37
NC_000023.9:g.31106706C>G	NCBI36
NG_012232.1:g.2165942G>C , LRG_199:g.2165942G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.5069+1G>C	ENSP00000350765.3:n.5069+1G>C
ENST00000475732.3:n.2571G>C
ENST00000680162.2:c.1019+1G>C	ENSP00000506634.2:n.1019+1G>C
ENST00000680768.2:c.1019+1G>C	ENSP00000506359.2:n.1019+1G>C
ENST00000681989.1:n.1021+1G>C
ENST00000682238.1:c.2843+1G>C	ENSP00000508124.1:n.2843+1G>C
ENST00000682322.1:c.1019+1G>C	ENSP00000507690.1:n.1019+1G>C
ENST00000682600.1:c.1019+1G>C	ENSP00000507640.1:n.1019+1G>C
ENST00000682769.1:n.854+1G>C
ENST00000683509.1:n.1740+1G>C
ENST00000683675.1:n.1322+1G>C
ENST00000683709.1:n.1741+1G>C
ENST00000683957.1:n.3715+1G>C
ENST00000684130.1:c.2843+1G>C	ENSP00000508037.1:n.2843+1G>C
ENST00000343523.7:c.2078+1G>C	ENSP00000340057.4:n.2078+1G>C
ENST00000357033.9:c.10223+1G>C MANE Select	ENSP00000354923.3:n.10223+1G>C
ENST00000475732.2:n.590G>C
ENST00000619831.5:c.6191+1G>C	ENSP00000479270.2:n.6191+1G>C
ENST00000620040.5:c.2843+1G>C	ENSP00000478150.2:n.2843+1G>C
ENST00000679641.1:c.*225+1G>C	ENSP00000506135.1:n.*225+1G>C
ENST00000679706.1:c.180+1G>C
ENST00000680162.1:c.896+1G>C	ENSP00000506634.1:n.896+1G>C
ENST00000680355.1:c.1019+1G>C	ENSP00000506257.1:n.1019+1G>C
ENST00000680557.1:c.603+25293G>C	ENSP00000505164.1:n.603+25293G>C
ENST00000680768.1:c.962+1G>C	ENSP00000506359.1:n.962+1G>C
ENST00000680961.1:c.*225+1G>C	ENSP00000506386.1:n.*225+1G>C
ENST00000681153.1:c.1019+1G>C	ENSP00000505124.1:n.1019+1G>C
ENST00000681654.1:n.1154G>C
ENST00000343523.6:c.2036+1G>C	ENSP00000340057.3:n.2036+1G>C
ENST00000357033.8:c.10223+1G>C	ENSP00000354923.3:n.10223+1G>C
ENST00000358062.6:c.3311+1G>C	ENSP00000350765.2:n.3311+1G>C
ENST00000359836.5:c.2843+1G>C	ENSP00000352894.1:n.2843+1G>C
ENST00000361471.8:c.1019+1G>C	ENSP00000354464.4:n.1019+1G>C
ENST00000378677.6:c.10211+1G>C	ENSP00000367948.2:n.10211+1G>C
ENST00000378680.6:c.1019+1G>C	ENSP00000367951.2:n.1019+1G>C
ENST00000378702.8:c.1019+1G>C	ENSP00000367974.4:n.1019+1G>C
ENST00000378705.3:c.593+1G>C	ENSP00000367977.3:n.593+1G>C
ENST00000378707.7:c.2843+1G>C	ENSP00000367979.3:n.2843+1G>C
ENST00000378723.7:c.1019+1G>C	ENSP00000367997.3:n.1019+1G>C
ENST00000474231.5:c.2843+1G>C	ENSP00000417123.1:n.2843+1G>C
ENST00000475732.1:n.440G>C
ENST00000541735.5:c.2843+1G>C	ENSP00000444119.1:n.2843+1G>C
ENST00000619831.4:c.10208+1G>C	ENSP00000479270.1:n.10208+1G>C
ENST00000620040.4:c.10220+1G>C	ENSP00000478150.1:n.10220+1G>C
NM_000109.3:c.10199+1G>C	NP_000100.2:n.10199+1G>C
NM_004006.2:c.10223+1G>C , LRG_199t1:c.10223+1G>C	NP_003997.1:n.10223+1G>C
NM_004009.3:c.10211+1G>C	NP_004000.1:n.10211+1G>C
NM_004010.3:c.9854+1G>C	NP_004001.1:n.9854+1G>C
NM_004011.3:c.6200+1G>C	NP_004002.2:n.6200+1G>C
NM_004012.3:c.6191+1G>C	NP_004003.1:n.6191+1G>C
NM_004013.2:c.2843+1G>C	NP_004004.1:n.2843+1G>C
NM_004014.2:c.2036+1G>C	NP_004005.1:n.2036+1G>C
NM_004015.2:c.1019+1G>C	NP_004006.1:n.1019+1G>C
NM_004016.2:c.1019+1G>C	NP_004007.1:n.1019+1G>C
NM_004017.2:c.1019+1G>C	NP_004008.1:n.1019+1G>C
NM_004018.2:c.1019+1G>C	NP_004009.1:n.1019+1G>C
NM_004019.2:c.1020G>C	NP_004010.1:p.Thr340=
NM_004020.3:c.2843+1G>C	NP_004011.2:n.2843+1G>C
NM_004021.2:c.2843+1G>C	NP_004012.1:n.2843+1G>C
NM_004022.2:c.2843+1G>C	NP_004013.1:n.2843+1G>C
NM_004023.2:c.2843+1G>C	NP_004014.1:n.2843+1G>C
XM_006724468.2:c.10223+1G>C	XP_006724531.1:n.10223+1G>C
XM_006724469.2:c.10199+1G>C	XP_006724532.1:n.10199+1G>C
XM_006724470.2:c.10223+1G>C	XP_006724533.1:n.10223+1G>C
XM_006724471.2:c.10223+1G>C	XP_006724534.1:n.10223+1G>C
XM_006724472.2:c.10094+1G>C	XP_006724535.1:n.10094+1G>C
XM_006724473.2:c.10085+1G>C	XP_006724536.1:n.10085+1G>C
XM_006724474.2:c.10223+1G>C	XP_006724537.1:n.10223+1G>C
XM_006724475.2:c.10223+1G>C	XP_006724538.1:n.10223+1G>C
XM_011545467.1:c.10100+1G>C	XP_011543769.1:n.10100+1G>C
XM_006724469.3:c.10199+1G>C	XP_006724532.1:n.10199+1G>C
XM_006724470.3:c.10223+1G>C	XP_006724533.1:n.10223+1G>C
XM_006724474.3:c.10223+1G>C	XP_006724537.1:n.10223+1G>C
XM_017029328.1:c.10223+1G>C	XP_016884817.1:n.10223+1G>C
XM_017029331.1:c.4397+1G>C	XP_016884820.1:n.4397+1G>C
NM_000109.4:c.10199+1G>C	NP_000100.3:n.10199+1G>C
NM_004006.3:c.10223+1G>C MANE Select	NP_003997.2:n.10223+1G>C
NM_004011.4:c.6200+1G>C	NP_004002.3:n.6200+1G>C
NM_004012.4:c.6191+1G>C	NP_004003.2:n.6191+1G>C
NM_004015.3:c.1019+1G>C	NP_004006.1:n.1019+1G>C
NM_004016.3:c.1019+1G>C	NP_004007.1:n.1019+1G>C
NM_004017.3:c.1019+1G>C	NP_004008.1:n.1019+1G>C
NM_004018.3:c.1019+1G>C	NP_004009.1:n.1019+1G>C
NM_004019.3:c.1020G>C	NP_004010.1:p.Thr340=
NM_004021.3:c.2843+1G>C	NP_004012.2:n.2843+1G>C
NM_004023.3:c.2843+1G>C	NP_004014.2:n.2843+1G>C
NM_004013.3:c.2843+1G>C	NP_004004.2:n.2843+1G>C
NM_004014.3:c.2036+1G>C	NP_004005.2:n.2036+1G>C
NM_004020.4:c.2843+1G>C	NP_004011.3:n.2843+1G>C
NM_004022.3:c.2843+1G>C	NP_004013.2:n.2843+1G>C