Canonical Allele Identifier: CA285620

Gene: DMD

Linked Data

• ClinVar Variation Id: 11267
• ClinVar RCV Id: RCV000012018 ; RCV000080810 ; RCV000247958 ; RCV000322171 ; RCV000711469
• dbSNP Id: rs41305353
• ExAC: X:31496431 T / A
• gnomAD v2: X-31496431-T-A
• gnomAD v3: X-31478314-T-A
• gnomAD v4: X-31478314-T-A
• MyVariant Identifiers: chrX:g.31496431T>A (hg19) ; chrX:g.31478314T>A (hg38)
• PubMed: PMID:7881286 ; PMID:22678781 ; PMID:23757202 ; PMID:25333069

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31478314T>A , CM000685.2:g.31478314T>A	GRCh38
NC_000023.10:g.31496431T>A , CM000685.1:g.31496431T>A	GRCh37
NC_000023.9:g.31406352T>A	NCBI36
NG_012232.1:g.1866296A>T , LRG_199:g.1866296A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.3575A>T	ENSP00000350765.3:p.Glu1192Val
ENST00000682238.1:c.1349A>T	ENSP00000508124.1:p.Glu450Val
ENST00000683450.1:n.2194A>T
ENST00000683957.1:n.2221A>T
ENST00000684130.1:c.1349A>T	ENSP00000508037.1:p.Glu450Val
ENST00000343523.7:c.584A>T	ENSP00000340057.4:p.Glu195Val
ENST00000357033.9:c.8729A>T MANE Select	ENSP00000354923.3:p.Glu2910Val
ENST00000619831.5:c.4697A>T	ENSP00000479270.2:p.Glu1566Val
ENST00000620040.5:c.1349A>T	ENSP00000478150.2:p.Glu450Val
ENST00000680961.1:c.1349A>T	ENSP00000506386.1:p.Glu450Val
ENST00000681646.1:n.2390A>T
ENST00000343523.6:c.542A>T	ENSP00000340057.3:p.Glu181Val
ENST00000357033.8:c.8729A>T	ENSP00000354923.3:p.Glu2910Val
ENST00000358062.6:c.1817A>T	ENSP00000350765.2:p.Glu606Val
ENST00000359836.5:c.1349A>T	ENSP00000352894.1:p.Glu450Val
ENST00000378677.6:c.8717A>T	ENSP00000367948.2:p.Glu2906Val
ENST00000378707.7:c.1349A>T	ENSP00000367979.3:p.Glu450Val
ENST00000474231.5:c.1349A>T	ENSP00000417123.1:p.Glu450Val
ENST00000541735.5:c.1349A>T	ENSP00000444119.1:p.Glu450Val
ENST00000619831.4:c.8714A>T	ENSP00000479270.1:p.Glu2905Val
ENST00000620040.4:c.8726A>T	ENSP00000478150.1:p.Glu2909Val
NM_000109.3:c.8705A>T	NP_000100.2:p.Glu2902Val
NM_004006.2:c.8729A>T , LRG_199t1:c.8729A>T	NP_003997.1:p.Glu2910Val
NM_004009.3:c.8717A>T	NP_004000.1:p.Glu2906Val
NM_004010.3:c.8360A>T	NP_004001.1:p.Glu2787Val
NM_004011.3:c.4706A>T	NP_004002.2:p.Glu1569Val
NM_004012.3:c.4697A>T	NP_004003.1:p.Glu1566Val
NM_004013.2:c.1349A>T	NP_004004.1:p.Glu450Val
NM_004014.2:c.542A>T	NP_004005.1:p.Glu181Val
NM_004020.3:c.1349A>T	NP_004011.2:p.Glu450Val
NM_004021.2:c.1349A>T	NP_004012.1:p.Glu450Val
NM_004022.2:c.1349A>T	NP_004013.1:p.Glu450Val
NM_004023.2:c.1349A>T	NP_004014.1:p.Glu450Val
XM_006724468.2:c.8729A>T	XP_006724531.1:p.Glu2910Val
XM_006724469.2:c.8705A>T	XP_006724532.1:p.Glu2902Val
XM_006724470.2:c.8729A>T	XP_006724533.1:p.Glu2910Val
XM_006724471.2:c.8729A>T	XP_006724534.1:p.Glu2910Val
XM_006724472.2:c.8600A>T	XP_006724535.1:p.Glu2867Val
XM_006724473.2:c.8591A>T	XP_006724536.1:p.Glu2864Val
XM_006724474.2:c.8729A>T	XP_006724537.1:p.Glu2910Val
XM_006724475.2:c.8729A>T	XP_006724538.1:p.Glu2910Val
XM_011545467.1:c.8606A>T	XP_011543769.1:p.Glu2869Val
XM_011545468.1:c.8729A>T	XP_011543770.1:p.Glu2910Val
XM_006724469.3:c.8705A>T	XP_006724532.1:p.Glu2902Val
XM_006724470.3:c.8729A>T	XP_006724533.1:p.Glu2910Val
XM_006724474.3:c.8729A>T	XP_006724537.1:p.Glu2910Val
XM_011545468.2:c.8729A>T	XP_011543770.1:p.Glu2910Val
XM_017029328.1:c.8729A>T	XP_016884817.1:p.Glu2910Val
XM_017029331.1:c.2903A>T	XP_016884820.1:p.Glu968Val
NM_000109.4:c.8705A>T	NP_000100.3:p.Glu2902Val
NM_004006.3:c.8729A>T MANE Select	NP_003997.2:p.Glu2910Val
NM_004011.4:c.4706A>T	NP_004002.3:p.Glu1569Val
NM_004012.4:c.4697A>T	NP_004003.2:p.Glu1566Val
NM_004021.3:c.1349A>T	NP_004012.2:p.Glu450Val
NM_004023.3:c.1349A>T	NP_004014.2:p.Glu450Val
NM_004013.3:c.1349A>T	NP_004004.2:p.Glu450Val
NM_004014.3:c.542A>T	NP_004005.2:p.Glu181Val
NM_004020.4:c.1349A>T	NP_004011.3:p.Glu450Val
NM_004022.3:c.1349A>T	NP_004013.2:p.Glu450Val