Canonical Allele Identifier: CA347467

Gene: DMD

Linked Data

• ClinVar Variation Id: 217182
• ClinVar RCV Id: RCV000201007 ; RCV001781590
• dbSNP Id: rs863224985
• MyVariant Identifiers: chrX:g.32536202C>A (hg19) ; chrX:g.32518085C>A (hg38)
• PubMed: PMID:23536893

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32518085C>A , CM000685.2:g.32518085C>A	GRCh38
NC_000023.10:g.32536202C>A , CM000685.1:g.32536202C>A	GRCh37
NC_000023.9:g.32446123C>A	NCBI36
NG_012232.1:g.826525G>T , LRG_199:g.826525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.2422G>T
ENST00000683985.1:n.2422G>T
ENST00000288447.9:c.2191G>T	ENSP00000288447.4:p.Glu731Ter
ENST00000357033.9:c.2215G>T MANE Select	ENSP00000354923.3:p.Glu739Ter
ENST00000288447.8:c.2191G>T	ENSP00000288447.4:p.Glu731Ter
ENST00000357033.8:c.2215G>T	ENSP00000354923.3:p.Glu739Ter
ENST00000378677.6:c.2203G>T	ENSP00000367948.2:p.Glu735Ter
ENST00000420596.5:c.94-152886G>T	ENSP00000399897.1:n.94-152886G>T
ENST00000448370.5:c.94-153375G>T	ENSP00000388559.1:n.94-153375G>T
ENST00000488902.5:n.336-301022G>T
ENST00000619831.4:c.2203G>T	ENSP00000479270.1:p.Glu735Ter
ENST00000620040.4:c.2215G>T	ENSP00000478150.1:p.Glu739Ter
NM_000109.3:c.2191G>T	NP_000100.2:p.Glu731Ter
NM_004006.2:c.2215G>T , LRG_199t1:c.2215G>T	NP_003997.1:p.Glu739Ter
NM_004009.3:c.2203G>T	NP_004000.1:p.Glu735Ter
NM_004010.3:c.1846G>T	NP_004001.1:p.Glu616Ter
XM_006724468.2:c.2215G>T	XP_006724531.1:p.Glu739Ter
XM_006724469.2:c.2191G>T	XP_006724532.1:p.Glu731Ter
XM_006724470.2:c.2215G>T	XP_006724533.1:p.Glu739Ter
XM_006724471.2:c.2215G>T	XP_006724534.1:p.Glu739Ter
XM_006724472.2:c.2086G>T	XP_006724535.1:p.Glu696Ter
XM_006724473.2:c.2215G>T	XP_006724536.1:p.Glu739Ter
XM_006724474.2:c.2215G>T	XP_006724537.1:p.Glu739Ter
XM_006724475.2:c.2215G>T	XP_006724538.1:p.Glu739Ter
XM_011545467.1:c.2215G>T	XP_011543769.1:p.Glu739Ter
XM_011545468.1:c.2215G>T	XP_011543770.1:p.Glu739Ter
XM_011545469.1:c.2215G>T	XP_011543771.1:p.Glu739Ter
XM_006724469.3:c.2191G>T	XP_006724532.1:p.Glu731Ter
XM_006724470.3:c.2215G>T	XP_006724533.1:p.Glu739Ter
XM_006724474.3:c.2215G>T	XP_006724537.1:p.Glu739Ter
XM_011545468.2:c.2215G>T	XP_011543770.1:p.Glu739Ter
XM_017029328.1:c.2215G>T	XP_016884817.1:p.Glu739Ter
XM_017029329.1:c.2215G>T	XP_016884818.1:p.Glu739Ter
XM_017029330.2:c.2215G>T	XP_016884819.1:p.Glu739Ter
NM_000109.4:c.2191G>T	NP_000100.3:p.Glu731Ter
NM_004006.3:c.2215G>T MANE Select	NP_003997.2:p.Glu739Ter