Canonical Allele Identifier: CA16616687

Gene: DMD

Linked Data

• ClinVar Variation Id: 409897
• ClinVar RCV Id: RCV000472980
• dbSNP Id: rs1060502627
• MyVariant Identifiers: chrX:g.32536141A>T (hg19) ; chrX:g.32518024A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32518024A>T , CM000685.2:g.32518024A>T	GRCh38
NC_000023.10:g.32536141A>T , CM000685.1:g.32536141A>T	GRCh37
NC_000023.9:g.32446062A>T	NCBI36
NG_012232.1:g.826586T>A , LRG_199:g.826586T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.2483T>A
ENST00000683985.1:n.2483T>A
ENST00000288447.9:c.2252T>A	ENSP00000288447.4:p.Leu751Ter
ENST00000357033.9:c.2276T>A MANE Select	ENSP00000354923.3:p.Leu759Ter
ENST00000288447.8:c.2252T>A	ENSP00000288447.4:p.Leu751Ter
ENST00000357033.8:c.2276T>A	ENSP00000354923.3:p.Leu759Ter
ENST00000378677.6:c.2264T>A	ENSP00000367948.2:p.Leu755Ter
ENST00000420596.5:c.94-152825T>A	ENSP00000399897.1:n.94-152825T>A
ENST00000448370.5:c.94-153314T>A	ENSP00000388559.1:n.94-153314T>A
ENST00000488902.5:n.336-300961T>A
ENST00000619831.4:c.2264T>A	ENSP00000479270.1:p.Leu755Ter
ENST00000620040.4:c.2276T>A	ENSP00000478150.1:p.Leu759Ter
NM_000109.3:c.2252T>A	NP_000100.2:p.Leu751Ter
NM_004006.2:c.2276T>A , LRG_199t1:c.2276T>A	NP_003997.1:p.Leu759Ter
NM_004009.3:c.2264T>A	NP_004000.1:p.Leu755Ter
NM_004010.3:c.1907T>A	NP_004001.1:p.Leu636Ter
XM_006724468.2:c.2276T>A	XP_006724531.1:p.Leu759Ter
XM_006724469.2:c.2252T>A	XP_006724532.1:p.Leu751Ter
XM_006724470.2:c.2276T>A	XP_006724533.1:p.Leu759Ter
XM_006724471.2:c.2276T>A	XP_006724534.1:p.Leu759Ter
XM_006724472.2:c.2147T>A	XP_006724535.1:p.Leu716Ter
XM_006724473.2:c.2276T>A	XP_006724536.1:p.Leu759Ter
XM_006724474.2:c.2276T>A	XP_006724537.1:p.Leu759Ter
XM_006724475.2:c.2276T>A	XP_006724538.1:p.Leu759Ter
XM_011545467.1:c.2276T>A	XP_011543769.1:p.Leu759Ter
XM_011545468.1:c.2276T>A	XP_011543770.1:p.Leu759Ter
XM_011545469.1:c.2276T>A	XP_011543771.1:p.Leu759Ter
XM_006724469.3:c.2252T>A	XP_006724532.1:p.Leu751Ter
XM_006724470.3:c.2276T>A	XP_006724533.1:p.Leu759Ter
XM_006724474.3:c.2276T>A	XP_006724537.1:p.Leu759Ter
XM_011545468.2:c.2276T>A	XP_011543770.1:p.Leu759Ter
XM_017029328.1:c.2276T>A	XP_016884817.1:p.Leu759Ter
XM_017029329.1:c.2276T>A	XP_016884818.1:p.Leu759Ter
XM_017029330.2:c.2276T>A	XP_016884819.1:p.Leu759Ter
NM_000109.4:c.2252T>A	NP_000100.3:p.Leu751Ter
NM_004006.3:c.2276T>A MANE Select	NP_003997.2:p.Leu759Ter