Canonical Allele Identifier: CA412652558

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31279128T>G (hg19) ; chrX:g.31261011T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31261011T>G , CM000685.2:g.31261011T>G	GRCh38
NC_000023.10:g.31279128T>G , CM000685.1:g.31279128T>G	GRCh37
NC_000023.9:g.31189049T>G	NCBI36
NG_012232.1:g.2083599A>C , LRG_199:g.2083599A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.4076A>C	ENSP00000350765.3:p.Glu1359Ala
ENST00000680162.2:c.26A>C	ENSP00000506634.2:p.Glu9Ala
ENST00000680768.2:c.26A>C	ENSP00000506359.2:p.Glu9Ala
ENST00000682238.1:c.1850A>C	ENSP00000508124.1:p.Glu617Ala
ENST00000682322.1:c.26A>C	ENSP00000507690.1:p.Glu9Ala
ENST00000682600.1:c.26A>C	ENSP00000507640.1:p.Glu9Ala
ENST00000683509.1:n.747A>C
ENST00000683675.1:n.329A>C
ENST00000683709.1:n.748A>C
ENST00000683957.1:n.2722A>C
ENST00000684130.1:c.1850A>C	ENSP00000508037.1:p.Glu617Ala
ENST00000343523.7:c.1085A>C	ENSP00000340057.4:p.Glu362Ala
ENST00000357033.9:c.9230A>C MANE Select	ENSP00000354923.3:p.Glu3077Ala
ENST00000619831.5:c.5198A>C	ENSP00000479270.2:p.Glu1733Ala
ENST00000620040.5:c.1850A>C	ENSP00000478150.2:p.Glu617Ala
ENST00000679641.1:c.26A>C	ENSP00000506135.1:p.Glu9Ala
ENST00000680216.1:c.6A>C
ENST00000680355.1:c.26A>C	ENSP00000506257.1:p.Glu9Ala
ENST00000680557.1:c.26A>C	ENSP00000505164.1:p.Glu9Ala
ENST00000680768.1:c.-32A>C	ENSP00000506359.1:n.-32A>C
ENST00000680961.1:c.1850A>C	ENSP00000506386.1:p.Glu617Ala
ENST00000681153.1:c.26A>C	ENSP00000505124.1:p.Glu9Ala
ENST00000681334.1:c.26A>C	ENSP00000506066.1:p.Glu9Ala
ENST00000681646.1:n.2891A>C
ENST00000681654.1:n.160A>C
ENST00000681870.1:c.26A>C	ENSP00000506709.1:p.Glu9Ala
ENST00000343523.6:c.1043A>C	ENSP00000340057.3:p.Glu348Ala
ENST00000357033.8:c.9230A>C	ENSP00000354923.3:p.Glu3077Ala
ENST00000358062.6:c.2318A>C	ENSP00000350765.2:p.Glu773Ala
ENST00000359836.5:c.1850A>C	ENSP00000352894.1:p.Glu617Ala
ENST00000361471.8:c.26A>C	ENSP00000354464.4:p.Glu9Ala
ENST00000378677.6:c.9218A>C	ENSP00000367948.2:p.Glu3073Ala
ENST00000378680.6:c.26A>C	ENSP00000367951.2:p.Glu9Ala
ENST00000378702.8:c.26A>C	ENSP00000367974.4:p.Glu9Ala
ENST00000378707.7:c.1850A>C	ENSP00000367979.3:p.Glu617Ala
ENST00000378723.7:c.26A>C	ENSP00000367997.3:p.Glu9Ala
ENST00000469142.1:n.249A>C
ENST00000474231.5:c.1850A>C	ENSP00000417123.1:p.Glu617Ala
ENST00000541735.5:c.1850A>C	ENSP00000444119.1:p.Glu617Ala
ENST00000619831.4:c.9215A>C	ENSP00000479270.1:p.Glu3072Ala
ENST00000620040.4:c.9227A>C	ENSP00000478150.1:p.Glu3076Ala
NM_000109.3:c.9206A>C	NP_000100.2:p.Glu3069Ala
NM_004006.2:c.9230A>C , LRG_199t1:c.9230A>C	NP_003997.1:p.Glu3077Ala
NM_004009.3:c.9218A>C	NP_004000.1:p.Glu3073Ala
NM_004010.3:c.8861A>C	NP_004001.1:p.Glu2954Ala
NM_004011.3:c.5207A>C	NP_004002.2:p.Glu1736Ala
NM_004012.3:c.5198A>C	NP_004003.1:p.Glu1733Ala
NM_004013.2:c.1850A>C	NP_004004.1:p.Glu617Ala
NM_004014.2:c.1043A>C	NP_004005.1:p.Glu348Ala
NM_004015.2:c.26A>C	NP_004006.1:p.Glu9Ala
NM_004016.2:c.26A>C	NP_004007.1:p.Glu9Ala
NM_004017.2:c.26A>C	NP_004008.1:p.Glu9Ala
NM_004018.2:c.26A>C	NP_004009.1:p.Glu9Ala
NM_004019.2:c.26A>C	NP_004010.1:p.Glu9Ala
NM_004020.3:c.1850A>C	NP_004011.2:p.Glu617Ala
NM_004021.2:c.1850A>C	NP_004012.1:p.Glu617Ala
NM_004022.2:c.1850A>C	NP_004013.1:p.Glu617Ala
NM_004023.2:c.1850A>C	NP_004014.1:p.Glu617Ala
XM_006724468.2:c.9230A>C	XP_006724531.1:p.Glu3077Ala
XM_006724469.2:c.9206A>C	XP_006724532.1:p.Glu3069Ala
XM_006724470.2:c.9230A>C	XP_006724533.1:p.Glu3077Ala
XM_006724471.2:c.9230A>C	XP_006724534.1:p.Glu3077Ala
XM_006724472.2:c.9101A>C	XP_006724535.1:p.Glu3034Ala
XM_006724473.2:c.9092A>C	XP_006724536.1:p.Glu3031Ala
XM_006724474.2:c.9230A>C	XP_006724537.1:p.Glu3077Ala
XM_006724475.2:c.9230A>C	XP_006724538.1:p.Glu3077Ala
XM_011545467.1:c.9107A>C	XP_011543769.1:p.Glu3036Ala
XM_011545468.1:c.9230A>C	XP_011543770.1:p.Glu3077Ala
XM_006724469.3:c.9206A>C	XP_006724532.1:p.Glu3069Ala
XM_006724470.3:c.9230A>C	XP_006724533.1:p.Glu3077Ala
XM_006724474.3:c.9230A>C	XP_006724537.1:p.Glu3077Ala
XM_011545468.2:c.9230A>C	XP_011543770.1:p.Glu3077Ala
XM_017029328.1:c.9230A>C	XP_016884817.1:p.Glu3077Ala
XM_017029331.1:c.3404A>C	XP_016884820.1:p.Glu1135Ala
NM_000109.4:c.9206A>C	NP_000100.3:p.Glu3069Ala
NM_004006.3:c.9230A>C MANE Select	NP_003997.2:p.Glu3077Ala
NM_004011.4:c.5207A>C	NP_004002.3:p.Glu1736Ala
NM_004012.4:c.5198A>C	NP_004003.2:p.Glu1733Ala
NM_004015.3:c.26A>C	NP_004006.1:p.Glu9Ala
NM_004016.3:c.26A>C	NP_004007.1:p.Glu9Ala
NM_004017.3:c.26A>C	NP_004008.1:p.Glu9Ala
NM_004018.3:c.26A>C	NP_004009.1:p.Glu9Ala
NM_004019.3:c.26A>C	NP_004010.1:p.Glu9Ala
NM_004021.3:c.1850A>C	NP_004012.2:p.Glu617Ala
NM_004023.3:c.1850A>C	NP_004014.2:p.Glu617Ala
NM_004013.3:c.1850A>C	NP_004004.2:p.Glu617Ala
NM_004014.3:c.1043A>C	NP_004005.2:p.Glu348Ala
NM_004020.4:c.1850A>C	NP_004011.3:p.Glu617Ala
NM_004022.3:c.1850A>C	NP_004013.2:p.Glu617Ala