Canonical Allele Identifier: CA412666426

Gene: DMD

Linked Data

• ClinVar Variation Id: 526083
• ClinVar RCV Id: RCV000630547
• dbSNP Id: rs1557291229
• COSMIC: COSM5064660 ; COSM5064661 ; COSM5064662 ; COSM5064663
• MyVariant Identifiers: chrX:g.32361388T>A (hg19) ; chrX:g.32343271T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343271T>A , CM000685.2:g.32343271T>A	GRCh38
NC_000023.10:g.32361388T>A , CM000685.1:g.32361388T>A	GRCh37
NC_000023.9:g.32271309T>A	NCBI36
NG_012232.1:g.1001339A>T , LRG_199:g.1001339A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.448A>T	ENSP00000350765.3:p.Arg150Ter
ENST00000357033.9:c.5602A>T MANE Select	ENSP00000354923.3:p.Arg1868Ter
ENST00000619831.5:c.1570A>T	ENSP00000479270.2:p.Arg524Ter
ENST00000357033.8:c.5602A>T	ENSP00000354923.3:p.Arg1868Ter
ENST00000378677.6:c.5590A>T	ENSP00000367948.2:p.Arg1864Ter
ENST00000488902.5:n.336-126208A>T
ENST00000493412.1:c.259A>T	ENSP00000417725.1:p.Arg87Ter
ENST00000619831.4:c.5590A>T	ENSP00000479270.1:p.Arg1864Ter
ENST00000620040.4:c.5602A>T	ENSP00000478150.1:p.Arg1868Ter
NM_000109.3:c.5578A>T	NP_000100.2:p.Arg1860Ter
NM_004006.2:c.5602A>T , LRG_199t1:c.5602A>T	NP_003997.1:p.Arg1868Ter
NM_004009.3:c.5590A>T	NP_004000.1:p.Arg1864Ter
NM_004010.3:c.5233A>T	NP_004001.1:p.Arg1745Ter
NM_004011.3:c.1579A>T	NP_004002.2:p.Arg527Ter
NM_004012.3:c.1570A>T	NP_004003.1:p.Arg524Ter
XM_006724468.2:c.5602A>T	XP_006724531.1:p.Arg1868Ter
XM_006724469.2:c.5578A>T	XP_006724532.1:p.Arg1860Ter
XM_006724470.2:c.5602A>T	XP_006724533.1:p.Arg1868Ter
XM_006724471.2:c.5602A>T	XP_006724534.1:p.Arg1868Ter
XM_006724472.2:c.5473A>T	XP_006724535.1:p.Arg1825Ter
XM_006724473.2:c.5464A>T	XP_006724536.1:p.Arg1822Ter
XM_006724474.2:c.5602A>T	XP_006724537.1:p.Arg1868Ter
XM_006724475.2:c.5602A>T	XP_006724538.1:p.Arg1868Ter
XM_011545467.1:c.5479A>T	XP_011543769.1:p.Arg1827Ter
XM_011545468.1:c.5602A>T	XP_011543770.1:p.Arg1868Ter
XM_011545469.1:c.5602A>T	XP_011543771.1:p.Arg1868Ter
XM_006724469.3:c.5578A>T	XP_006724532.1:p.Arg1860Ter
XM_006724470.3:c.5602A>T	XP_006724533.1:p.Arg1868Ter
XM_006724474.3:c.5602A>T	XP_006724537.1:p.Arg1868Ter
XM_011545468.2:c.5602A>T	XP_011543770.1:p.Arg1868Ter
XM_017029328.1:c.5602A>T	XP_016884817.1:p.Arg1868Ter
XM_017029329.1:c.5602A>T	XP_016884818.1:p.Arg1868Ter
XM_017029330.2:c.5602A>T	XP_016884819.1:p.Arg1868Ter
NM_000109.4:c.5578A>T	NP_000100.3:p.Arg1860Ter
NM_004006.3:c.5602A>T MANE Select	NP_003997.2:p.Arg1868Ter
NM_004011.4:c.1579A>T	NP_004002.3:p.Arg527Ter
NM_004012.4:c.1570A>T	NP_004003.2:p.Arg524Ter