Canonical Allele Identifier: CA347511

Gene: DMD

Linked Data

• ClinVar Variation Id: 217197
• ClinVar RCV Id: RCV000201081 ; RCV000508425
• dbSNP Id: rs863224997
• MyVariant Identifiers: chrX:g.32408292G>A (hg19) ; chrX:g.32390175G>A (hg38)
• PubMed: PMID:12632325 ; PMID:21972111

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32390175G>A , CM000685.2:g.32390175G>A	GRCh38
NC_000023.10:g.32408292G>A , CM000685.1:g.32408292G>A	GRCh37
NC_000023.9:g.32318213G>A	NCBI36
NG_012232.1:g.954435C>T , LRG_199:g.954435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4240C>T MANE Select	ENSP00000354923.3:p.Gln1414Ter
ENST00000619831.5:c.208C>T	ENSP00000479270.2:p.Gln70Ter
ENST00000357033.8:c.4240C>T	ENSP00000354923.3:p.Gln1414Ter
ENST00000378677.6:c.4228C>T	ENSP00000367948.2:p.Gln1410Ter
ENST00000420596.5:c.94-24976C>T	ENSP00000399897.1:n.94-24976C>T
ENST00000448370.5:c.94-25465C>T	ENSP00000388559.1:n.94-25465C>T
ENST00000488902.5:n.336-173112C>T
ENST00000619831.4:c.4228C>T	ENSP00000479270.1:p.Gln1410Ter
ENST00000620040.4:c.4240C>T	ENSP00000478150.1:p.Gln1414Ter
NM_000109.3:c.4216C>T	NP_000100.2:p.Gln1406Ter
NM_004006.2:c.4240C>T , LRG_199t1:c.4240C>T	NP_003997.1:p.Gln1414Ter
NM_004009.3:c.4228C>T	NP_004000.1:p.Gln1410Ter
NM_004010.3:c.3871C>T	NP_004001.1:p.Gln1291Ter
NM_004011.3:c.217C>T	NP_004002.2:p.Gln73Ter
NM_004012.3:c.208C>T	NP_004003.1:p.Gln70Ter
XM_006724468.2:c.4240C>T	XP_006724531.1:p.Gln1414Ter
XM_006724469.2:c.4216C>T	XP_006724532.1:p.Gln1406Ter
XM_006724470.2:c.4240C>T	XP_006724533.1:p.Gln1414Ter
XM_006724471.2:c.4240C>T	XP_006724534.1:p.Gln1414Ter
XM_006724472.2:c.4111C>T	XP_006724535.1:p.Gln1371Ter
XM_006724473.2:c.4240C>T	XP_006724536.1:p.Gln1414Ter
XM_006724474.2:c.4240C>T	XP_006724537.1:p.Gln1414Ter
XM_006724475.2:c.4240C>T	XP_006724538.1:p.Gln1414Ter
XM_011545467.1:c.4240C>T	XP_011543769.1:p.Gln1414Ter
XM_011545468.1:c.4240C>T	XP_011543770.1:p.Gln1414Ter
XM_011545469.1:c.4240C>T	XP_011543771.1:p.Gln1414Ter
XM_006724469.3:c.4216C>T	XP_006724532.1:p.Gln1406Ter
XM_006724470.3:c.4240C>T	XP_006724533.1:p.Gln1414Ter
XM_006724474.3:c.4240C>T	XP_006724537.1:p.Gln1414Ter
XM_011545468.2:c.4240C>T	XP_011543770.1:p.Gln1414Ter
XM_017029328.1:c.4240C>T	XP_016884817.1:p.Gln1414Ter
XM_017029329.1:c.4240C>T	XP_016884818.1:p.Gln1414Ter
XM_017029330.2:c.4240C>T	XP_016884819.1:p.Gln1414Ter
NM_000109.4:c.4216C>T	NP_000100.3:p.Gln1406Ter
NM_004006.3:c.4240C>T MANE Select	NP_003997.2:p.Gln1414Ter
NM_004011.4:c.217C>T	NP_004002.3:p.Gln73Ter
NM_004012.4:c.208C>T	NP_004003.2:p.Gln70Ter