Canonical Allele Identifier: CA412658728

Gene: DMD

Linked Data

• ClinVar Variation Id: 1988464
• ClinVar RCV Id: RCV002790458
• gnomAD v4: X-31773992-C-G
• MyVariant Identifiers: chrX:g.31792109C>G (hg19) ; chrX:g.31773992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31773992C>G , CM000685.2:g.31773992C>G	GRCh38
NC_000023.10:g.31792109C>G , CM000685.1:g.31792109C>G	GRCh37
NC_000023.9:g.31702030C>G	NCBI36
NG_012232.1:g.1570618G>C , LRG_199:g.1570618G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2356G>C	ENSP00000350765.3:p.Glu786Gln
ENST00000682238.1:c.130G>C	ENSP00000508124.1:p.Glu44Gln
ENST00000683117.1:n.1171G>C
ENST00000683450.1:n.1093G>C
ENST00000683851.1:n.1171G>C
ENST00000683957.1:n.1002G>C
ENST00000684130.1:c.130G>C	ENSP00000508037.1:p.Glu44Gln
ENST00000357033.9:c.7510G>C MANE Select	ENSP00000354923.3:p.Glu2504Gln
ENST00000619831.5:c.3478G>C	ENSP00000479270.2:p.Glu1160Gln
ENST00000620040.5:c.130G>C	ENSP00000478150.2:p.Glu44Gln
ENST00000680961.1:c.130G>C	ENSP00000506386.1:p.Glu44Gln
ENST00000681646.1:n.1171G>C
ENST00000681839.1:c.499G>C	ENSP00000505228.1:p.Glu167Gln
ENST00000357033.8:c.7510G>C	ENSP00000354923.3:p.Glu2504Gln
ENST00000358062.6:c.598G>C	ENSP00000350765.2:p.Glu200Gln
ENST00000359836.5:c.130G>C	ENSP00000352894.1:p.Glu44Gln
ENST00000378677.6:c.7498G>C	ENSP00000367948.2:p.Glu2500Gln
ENST00000378707.7:c.130G>C	ENSP00000367979.3:p.Glu44Gln
ENST00000471779.1:c.267G>C	ENSP00000417075.1:n.267G>C
ENST00000474231.5:c.130G>C	ENSP00000417123.1:p.Glu44Gln
ENST00000541735.5:c.130G>C	ENSP00000444119.1:p.Glu44Gln
ENST00000619831.4:c.7495G>C	ENSP00000479270.1:p.Glu2499Gln
ENST00000620040.4:c.7507G>C	ENSP00000478150.1:p.Glu2503Gln
NM_000109.3:c.7486G>C	NP_000100.2:p.Glu2496Gln
NM_004006.2:c.7510G>C , LRG_199t1:c.7510G>C	NP_003997.1:p.Glu2504Gln
NM_004009.3:c.7498G>C	NP_004000.1:p.Glu2500Gln
NM_004010.3:c.7141G>C	NP_004001.1:p.Glu2381Gln
NM_004011.3:c.3487G>C	NP_004002.2:p.Glu1163Gln
NM_004012.3:c.3478G>C	NP_004003.1:p.Glu1160Gln
NM_004013.2:c.130G>C	NP_004004.1:p.Glu44Gln
NM_004020.3:c.130G>C	NP_004011.2:p.Glu44Gln
NM_004021.2:c.130G>C	NP_004012.1:p.Glu44Gln
NM_004022.2:c.130G>C	NP_004013.1:p.Glu44Gln
NM_004023.2:c.130G>C	NP_004014.1:p.Glu44Gln
XM_006724468.2:c.7510G>C	XP_006724531.1:p.Glu2504Gln
XM_006724469.2:c.7486G>C	XP_006724532.1:p.Glu2496Gln
XM_006724470.2:c.7510G>C	XP_006724533.1:p.Glu2504Gln
XM_006724471.2:c.7510G>C	XP_006724534.1:p.Glu2504Gln
XM_006724472.2:c.7381G>C	XP_006724535.1:p.Glu2461Gln
XM_006724473.2:c.7372G>C	XP_006724536.1:p.Glu2458Gln
XM_006724474.2:c.7510G>C	XP_006724537.1:p.Glu2504Gln
XM_006724475.2:c.7510G>C	XP_006724538.1:p.Glu2504Gln
XM_011545467.1:c.7387G>C	XP_011543769.1:p.Glu2463Gln
XM_011545468.1:c.7510G>C	XP_011543770.1:p.Glu2504Gln
XM_006724469.3:c.7486G>C	XP_006724532.1:p.Glu2496Gln
XM_006724470.3:c.7510G>C	XP_006724533.1:p.Glu2504Gln
XM_006724474.3:c.7510G>C	XP_006724537.1:p.Glu2504Gln
XM_011545468.2:c.7510G>C	XP_011543770.1:p.Glu2504Gln
XM_017029328.1:c.7510G>C	XP_016884817.1:p.Glu2504Gln
XM_017029331.1:c.1684G>C	XP_016884820.1:p.Glu562Gln
NM_000109.4:c.7486G>C	NP_000100.3:p.Glu2496Gln
NM_004006.3:c.7510G>C MANE Select	NP_003997.2:p.Glu2504Gln
NM_004011.4:c.3487G>C	NP_004002.3:p.Glu1163Gln
NM_004012.4:c.3478G>C	NP_004003.2:p.Glu1160Gln
NM_004021.3:c.130G>C	NP_004012.2:p.Glu44Gln
NM_004023.3:c.130G>C	NP_004014.2:p.Glu44Gln
NM_004013.3:c.130G>C	NP_004004.2:p.Glu44Gln
NM_004020.4:c.130G>C	NP_004011.3:p.Glu44Gln
NM_004022.3:c.130G>C	NP_004013.2:p.Glu44Gln