Canonical Allele Identifier: CA515859508

Gene: DMD

Linked Data

• ClinVar Variation Id: 526122
• ClinVar RCV Id: RCV001167298 ; RCV001445702 ; RCV001829768 ; RCV003162791
• dbSNP Id: rs1556962392
• gnomAD v4: X-31875254-T-C
• MyVariant Identifiers: chrX:g.31893371T>C (hg19) ; chrX:g.31875254T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31875254T>C , CM000685.2:g.31875254T>C	GRCh38
NC_000023.10:g.31893371T>C , CM000685.1:g.31893371T>C	GRCh37
NC_000023.9:g.31803292T>C	NCBI36
NG_012232.1:g.1469356A>G , LRG_199:g.1469356A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1878A>G	ENSP00000350765.3:p.Leu626=
ENST00000682238.1:c.-349A>G	ENSP00000508124.1:n.-349A>G
ENST00000683117.1:n.693A>G
ENST00000683450.1:n.615A>G
ENST00000683851.1:n.693A>G
ENST00000683957.1:n.524A>G
ENST00000684130.1:c.-349A>G	ENSP00000508037.1:n.-349A>G
ENST00000357033.9:c.7032A>G MANE Select	ENSP00000354923.3:p.Leu2344=
ENST00000619831.5:c.3000A>G	ENSP00000479270.2:p.Leu1000=
ENST00000620040.5:c.-349A>G	ENSP00000478150.2:n.-349A>G
ENST00000680961.1:c.-349A>G	ENSP00000506386.1:n.-349A>G
ENST00000681646.1:n.693A>G
ENST00000357033.8:c.7032A>G	ENSP00000354923.3:p.Leu2344=
ENST00000358062.6:c.120A>G	ENSP00000350765.2:p.Leu40=
ENST00000359836.5:c.-349A>G	ENSP00000352894.1:n.-349A>G
ENST00000378677.6:c.7020A>G	ENSP00000367948.2:p.Leu2340=
ENST00000378707.7:c.-349A>G	ENSP00000367979.3:n.-349A>G
ENST00000474231.5:c.-349A>G	ENSP00000417123.1:n.-349A>G
ENST00000541735.5:c.-349A>G	ENSP00000444119.1:n.-349A>G
ENST00000619831.4:c.7017A>G	ENSP00000479270.1:p.Leu2339=
ENST00000620040.4:c.7029A>G	ENSP00000478150.1:p.Leu2343=
NM_000109.3:c.7008A>G	NP_000100.2:p.Leu2336=
NM_004006.2:c.7032A>G , LRG_199t1:c.7032A>G	NP_003997.1:p.Leu2344=
NM_004009.3:c.7020A>G	NP_004000.1:p.Leu2340=
NM_004010.3:c.6663A>G	NP_004001.1:p.Leu2221=
NM_004011.3:c.3009A>G	NP_004002.2:p.Leu1003=
NM_004012.3:c.3000A>G	NP_004003.1:p.Leu1000=
NM_004013.2:c.-349A>G	NP_004004.1:n.-349A>G
NM_004020.3:c.-349A>G	NP_004011.2:n.-349A>G
NM_004021.2:c.-349A>G	NP_004012.1:n.-349A>G
NM_004022.2:c.-349A>G	NP_004013.1:n.-349A>G
NM_004023.2:c.-349A>G	NP_004014.1:n.-349A>G
XM_006724468.2:c.7032A>G	XP_006724531.1:p.Leu2344=
XM_006724469.2:c.7008A>G	XP_006724532.1:p.Leu2336=
XM_006724470.2:c.7032A>G	XP_006724533.1:p.Leu2344=
XM_006724471.2:c.7032A>G	XP_006724534.1:p.Leu2344=
XM_006724472.2:c.6903A>G	XP_006724535.1:p.Leu2301=
XM_006724473.2:c.6894A>G	XP_006724536.1:p.Leu2298=
XM_006724474.2:c.7032A>G	XP_006724537.1:p.Leu2344=
XM_006724475.2:c.7032A>G	XP_006724538.1:p.Leu2344=
XM_011545467.1:c.6909A>G	XP_011543769.1:p.Leu2303=
XM_011545468.1:c.7032A>G	XP_011543770.1:p.Leu2344=
XM_006724469.3:c.7008A>G	XP_006724532.1:p.Leu2336=
XM_006724470.3:c.7032A>G	XP_006724533.1:p.Leu2344=
XM_006724474.3:c.7032A>G	XP_006724537.1:p.Leu2344=
XM_011545468.2:c.7032A>G	XP_011543770.1:p.Leu2344=
XM_017029328.1:c.7032A>G	XP_016884817.1:p.Leu2344=
XM_017029331.1:c.1206A>G	XP_016884820.1:p.Leu402=
NM_000109.4:c.7008A>G	NP_000100.3:p.Leu2336=
NM_004006.3:c.7032A>G MANE Select	NP_003997.2:p.Leu2344=
NM_004011.4:c.3009A>G	NP_004002.3:p.Leu1003=
NM_004012.4:c.3000A>G	NP_004003.2:p.Leu1000=
NM_004021.3:c.-349A>G	NP_004012.2:n.-349A>G
NM_004023.3:c.-349A>G	NP_004014.2:n.-349A>G
NM_004013.3:c.-349A>G	NP_004004.2:n.-349A>G
NM_004020.4:c.-349A>G	NP_004011.3:n.-349A>G
NM_004022.3:c.-349A>G	NP_004013.2:n.-349A>G