Canonical Allele Identifier: CA412665755

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.32361292A>T (hg19) ; chrX:g.32343175A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343175A>T , CM000685.2:g.32343175A>T	GRCh38
NC_000023.10:g.32361292A>T , CM000685.1:g.32361292A>T	GRCh37
NC_000023.9:g.32271213A>T	NCBI36
NG_012232.1:g.1001435T>A , LRG_199:g.1001435T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.544T>A	ENSP00000350765.3:p.Leu182Ile
ENST00000357033.9:c.5698T>A MANE Select	ENSP00000354923.3:p.Leu1900Ile
ENST00000619831.5:c.1666T>A	ENSP00000479270.2:p.Leu556Ile
ENST00000357033.8:c.5698T>A	ENSP00000354923.3:p.Leu1900Ile
ENST00000378677.6:c.5686T>A	ENSP00000367948.2:p.Leu1896Ile
ENST00000488902.5:n.336-126112T>A
ENST00000493412.1:c.355T>A	ENSP00000417725.1:p.Leu119Ile
ENST00000619831.4:c.5686T>A	ENSP00000479270.1:p.Leu1896Ile
ENST00000620040.4:c.5698T>A	ENSP00000478150.1:p.Leu1900Ile
NM_000109.3:c.5674T>A	NP_000100.2:p.Leu1892Ile
NM_004006.2:c.5698T>A , LRG_199t1:c.5698T>A	NP_003997.1:p.Leu1900Ile
NM_004009.3:c.5686T>A	NP_004000.1:p.Leu1896Ile
NM_004010.3:c.5329T>A	NP_004001.1:p.Leu1777Ile
NM_004011.3:c.1675T>A	NP_004002.2:p.Leu559Ile
NM_004012.3:c.1666T>A	NP_004003.1:p.Leu556Ile
XM_006724468.2:c.5698T>A	XP_006724531.1:p.Leu1900Ile
XM_006724469.2:c.5674T>A	XP_006724532.1:p.Leu1892Ile
XM_006724470.2:c.5698T>A	XP_006724533.1:p.Leu1900Ile
XM_006724471.2:c.5698T>A	XP_006724534.1:p.Leu1900Ile
XM_006724472.2:c.5569T>A	XP_006724535.1:p.Leu1857Ile
XM_006724473.2:c.5560T>A	XP_006724536.1:p.Leu1854Ile
XM_006724474.2:c.5698T>A	XP_006724537.1:p.Leu1900Ile
XM_006724475.2:c.5698T>A	XP_006724538.1:p.Leu1900Ile
XM_011545467.1:c.5575T>A	XP_011543769.1:p.Leu1859Ile
XM_011545468.1:c.5698T>A	XP_011543770.1:p.Leu1900Ile
XM_011545469.1:c.5698T>A	XP_011543771.1:p.Leu1900Ile
XM_006724469.3:c.5674T>A	XP_006724532.1:p.Leu1892Ile
XM_006724470.3:c.5698T>A	XP_006724533.1:p.Leu1900Ile
XM_006724474.3:c.5698T>A	XP_006724537.1:p.Leu1900Ile
XM_011545468.2:c.5698T>A	XP_011543770.1:p.Leu1900Ile
XM_017029328.1:c.5698T>A	XP_016884817.1:p.Leu1900Ile
XM_017029329.1:c.5698T>A	XP_016884818.1:p.Leu1900Ile
XM_017029330.2:c.5698T>A	XP_016884819.1:p.Leu1900Ile
NM_000109.4:c.5674T>A	NP_000100.3:p.Leu1892Ile
NM_004006.3:c.5698T>A MANE Select	NP_003997.2:p.Leu1900Ile
NM_004011.4:c.1675T>A	NP_004002.3:p.Leu559Ile
NM_004012.4:c.1666T>A	NP_004003.2:p.Leu556Ile