Canonical Allele Identifier: CA515857064

Gene: DMD

Linked Data

• ClinVar Variation Id: 2699540
• ClinVar RCV Id: RCV003512401
• gnomAD v4: X-31206628-A-C
• MyVariant Identifiers: chrX:g.31224745A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31206628A>C , CM000685.2:g.31206628A>C	GRCh38
NC_000023.10:g.31224745A>C , CM000685.1:g.31224745A>C	GRCh37
NC_000023.9:g.31134666A>C	NCBI36
NG_012232.1:g.2137982T>G , LRG_199:g.2137982T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4449T>G	ENSP00000350765.3:p.Thr1483=
ENST00000680162.2:c.399T>G	ENSP00000506634.2:p.Thr133=
ENST00000680768.2:c.399T>G	ENSP00000506359.2:p.Thr133=
ENST00000681989.1:n.401T>G
ENST00000682238.1:c.2223T>G	ENSP00000508124.1:p.Thr741=
ENST00000682322.1:c.399T>G	ENSP00000507690.1:p.Thr133=
ENST00000682600.1:c.399T>G	ENSP00000507640.1:p.Thr133=
ENST00000682769.1:n.401T>G
ENST00000683509.1:n.1120T>G
ENST00000683675.1:n.702T>G
ENST00000683709.1:n.1121T>G
ENST00000683957.1:n.3095T>G
ENST00000684130.1:c.2223T>G	ENSP00000508037.1:p.Thr741=
ENST00000343523.7:c.1458T>G	ENSP00000340057.4:p.Thr486=
ENST00000357033.9:c.9603T>G MANE Select	ENSP00000354923.3:p.Thr3201=
ENST00000619831.5:c.5571T>G	ENSP00000479270.2:p.Thr1857=
ENST00000620040.5:c.2223T>G	ENSP00000478150.2:p.Thr741=
ENST00000679641.1:c.399T>G	ENSP00000506135.1:p.Thr133=
ENST00000680162.1:c.276T>G	ENSP00000506634.1:p.Thr92=
ENST00000680355.1:c.399T>G	ENSP00000506257.1:p.Thr133=
ENST00000680557.1:c.399T>G	ENSP00000505164.1:p.Thr133=
ENST00000680768.1:c.342T>G	ENSP00000506359.1:p.Thr114=
ENST00000680961.1:c.2223T>G	ENSP00000506386.1:p.Thr741=
ENST00000681153.1:c.399T>G	ENSP00000505124.1:p.Thr133=
ENST00000681334.1:c.399T>G	ENSP00000506066.1:p.Thr133=
ENST00000681654.1:n.533T>G
ENST00000343523.6:c.1416T>G	ENSP00000340057.3:p.Thr472=
ENST00000357033.8:c.9603T>G	ENSP00000354923.3:p.Thr3201=
ENST00000358062.6:c.2691T>G	ENSP00000350765.2:p.Thr897=
ENST00000359836.5:c.2223T>G	ENSP00000352894.1:p.Thr741=
ENST00000361471.8:c.399T>G	ENSP00000354464.4:p.Thr133=
ENST00000378677.6:c.9591T>G	ENSP00000367948.2:p.Thr3197=
ENST00000378680.6:c.399T>G	ENSP00000367951.2:p.Thr133=
ENST00000378702.8:c.399T>G	ENSP00000367974.4:p.Thr133=
ENST00000378707.7:c.2223T>G	ENSP00000367979.3:p.Thr741=
ENST00000378723.7:c.399T>G	ENSP00000367997.3:p.Thr133=
ENST00000474231.5:c.2223T>G	ENSP00000417123.1:p.Thr741=
ENST00000541735.5:c.2223T>G	ENSP00000444119.1:p.Thr741=
ENST00000619831.4:c.9588T>G	ENSP00000479270.1:p.Thr3196=
ENST00000620040.4:c.9600T>G	ENSP00000478150.1:p.Thr3200=
NM_000109.3:c.9579T>G	NP_000100.2:p.Thr3193=
NM_004006.2:c.9603T>G , LRG_199t1:c.9603T>G	NP_003997.1:p.Thr3201=
NM_004009.3:c.9591T>G	NP_004000.1:p.Thr3197=
NM_004010.3:c.9234T>G	NP_004001.1:p.Thr3078=
NM_004011.3:c.5580T>G	NP_004002.2:p.Thr1860=
NM_004012.3:c.5571T>G	NP_004003.1:p.Thr1857=
NM_004013.2:c.2223T>G	NP_004004.1:p.Thr741=
NM_004014.2:c.1416T>G	NP_004005.1:p.Thr472=
NM_004015.2:c.399T>G	NP_004006.1:p.Thr133=
NM_004016.2:c.399T>G	NP_004007.1:p.Thr133=
NM_004017.2:c.399T>G	NP_004008.1:p.Thr133=
NM_004018.2:c.399T>G	NP_004009.1:p.Thr133=
NM_004019.2:c.399T>G	NP_004010.1:p.Thr133=
NM_004020.3:c.2223T>G	NP_004011.2:p.Thr741=
NM_004021.2:c.2223T>G	NP_004012.1:p.Thr741=
NM_004022.2:c.2223T>G	NP_004013.1:p.Thr741=
NM_004023.2:c.2223T>G	NP_004014.1:p.Thr741=
XM_006724468.2:c.9603T>G	XP_006724531.1:p.Thr3201=
XM_006724469.2:c.9579T>G	XP_006724532.1:p.Thr3193=
XM_006724470.2:c.9603T>G	XP_006724533.1:p.Thr3201=
XM_006724471.2:c.9603T>G	XP_006724534.1:p.Thr3201=
XM_006724472.2:c.9474T>G	XP_006724535.1:p.Thr3158=
XM_006724473.2:c.9465T>G	XP_006724536.1:p.Thr3155=
XM_006724474.2:c.9603T>G	XP_006724537.1:p.Thr3201=
XM_006724475.2:c.9603T>G	XP_006724538.1:p.Thr3201=
XM_011545467.1:c.9480T>G	XP_011543769.1:p.Thr3160=
XM_011545468.1:c.9603T>G	XP_011543770.1:p.Thr3201=
XM_006724469.3:c.9579T>G	XP_006724532.1:p.Thr3193=
XM_006724470.3:c.9603T>G	XP_006724533.1:p.Thr3201=
XM_006724474.3:c.9603T>G	XP_006724537.1:p.Thr3201=
XM_011545468.2:c.9603T>G	XP_011543770.1:p.Thr3201=
XM_017029328.1:c.9603T>G	XP_016884817.1:p.Thr3201=
XM_017029331.1:c.3777T>G	XP_016884820.1:p.Thr1259=
NM_000109.4:c.9579T>G	NP_000100.3:p.Thr3193=
NM_004006.3:c.9603T>G MANE Select	NP_003997.2:p.Thr3201=
NM_004011.4:c.5580T>G	NP_004002.3:p.Thr1860=
NM_004012.4:c.5571T>G	NP_004003.2:p.Thr1857=
NM_004015.3:c.399T>G	NP_004006.1:p.Thr133=
NM_004016.3:c.399T>G	NP_004007.1:p.Thr133=
NM_004017.3:c.399T>G	NP_004008.1:p.Thr133=
NM_004018.3:c.399T>G	NP_004009.1:p.Thr133=
NM_004019.3:c.399T>G	NP_004010.1:p.Thr133=
NM_004021.3:c.2223T>G	NP_004012.2:p.Thr741=
NM_004023.3:c.2223T>G	NP_004014.2:p.Thr741=
NM_004013.3:c.2223T>G	NP_004004.2:p.Thr741=
NM_004014.3:c.1416T>G	NP_004005.2:p.Thr472=
NM_004020.4:c.2223T>G	NP_004011.3:p.Thr741=
NM_004022.3:c.2223T>G	NP_004013.2:p.Thr741=