Canonical Allele Identifier: CA16043588

Gene: DMD

Linked Data

• ClinVar Variation Id: 374059
• ClinVar RCV Id: RCV000415086
• dbSNP Id: rs1057518866
• MyVariant Identifiers: chrX:g.32361291A>C (hg19) ; chrX:g.32343174A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343174A>C , CM000685.2:g.32343174A>C	GRCh38
NC_000023.10:g.32361291A>C , CM000685.1:g.32361291A>C	GRCh37
NC_000023.9:g.32271212A>C	NCBI36
NG_012232.1:g.1001436T>G , LRG_199:g.1001436T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.545T>G	ENSP00000350765.3:p.Leu182Ter
ENST00000357033.9:c.5699T>G MANE Select	ENSP00000354923.3:p.Leu1900Ter
ENST00000619831.5:c.1667T>G	ENSP00000479270.2:p.Leu556Ter
ENST00000357033.8:c.5699T>G	ENSP00000354923.3:p.Leu1900Ter
ENST00000378677.6:c.5687T>G	ENSP00000367948.2:p.Leu1896Ter
ENST00000488902.5:n.336-126111T>G
ENST00000493412.1:c.356T>G	ENSP00000417725.1:p.Leu119Ter
ENST00000619831.4:c.5687T>G	ENSP00000479270.1:p.Leu1896Ter
ENST00000620040.4:c.5699T>G	ENSP00000478150.1:p.Leu1900Ter
NM_000109.3:c.5675T>G	NP_000100.2:p.Leu1892Ter
NM_004006.2:c.5699T>G , LRG_199t1:c.5699T>G	NP_003997.1:p.Leu1900Ter
NM_004009.3:c.5687T>G	NP_004000.1:p.Leu1896Ter
NM_004010.3:c.5330T>G	NP_004001.1:p.Leu1777Ter
NM_004011.3:c.1676T>G	NP_004002.2:p.Leu559Ter
NM_004012.3:c.1667T>G	NP_004003.1:p.Leu556Ter
XM_006724468.2:c.5699T>G	XP_006724531.1:p.Leu1900Ter
XM_006724469.2:c.5675T>G	XP_006724532.1:p.Leu1892Ter
XM_006724470.2:c.5699T>G	XP_006724533.1:p.Leu1900Ter
XM_006724471.2:c.5699T>G	XP_006724534.1:p.Leu1900Ter
XM_006724472.2:c.5570T>G	XP_006724535.1:p.Leu1857Ter
XM_006724473.2:c.5561T>G	XP_006724536.1:p.Leu1854Ter
XM_006724474.2:c.5699T>G	XP_006724537.1:p.Leu1900Ter
XM_006724475.2:c.5699T>G	XP_006724538.1:p.Leu1900Ter
XM_011545467.1:c.5576T>G	XP_011543769.1:p.Leu1859Ter
XM_011545468.1:c.5699T>G	XP_011543770.1:p.Leu1900Ter
XM_011545469.1:c.5699T>G	XP_011543771.1:p.Leu1900Ter
XM_006724469.3:c.5675T>G	XP_006724532.1:p.Leu1892Ter
XM_006724470.3:c.5699T>G	XP_006724533.1:p.Leu1900Ter
XM_006724474.3:c.5699T>G	XP_006724537.1:p.Leu1900Ter
XM_011545468.2:c.5699T>G	XP_011543770.1:p.Leu1900Ter
XM_017029328.1:c.5699T>G	XP_016884817.1:p.Leu1900Ter
XM_017029329.1:c.5699T>G	XP_016884818.1:p.Leu1900Ter
XM_017029330.2:c.5699T>G	XP_016884819.1:p.Leu1900Ter
NM_000109.4:c.5675T>G	NP_000100.3:p.Leu1892Ter
NM_004006.3:c.5699T>G MANE Select	NP_003997.2:p.Leu1900Ter
NM_004011.4:c.1676T>G	NP_004002.3:p.Leu559Ter
NM_004012.4:c.1667T>G	NP_004003.2:p.Leu556Ter