Canonical Allele Identifier: CA412648981

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31165393T>C (hg19) ; chrX:g.31147276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147276T>C , CM000685.2:g.31147276T>C	GRCh38
NC_000023.10:g.31165393T>C , CM000685.1:g.31165393T>C	GRCh37
NC_000023.9:g.31075314T>C	NCBI36
NG_012232.1:g.2197334A>G , LRG_199:g.2197334A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.5603A>G	ENSP00000350765.3:p.Gln1868Arg
ENST00000680162.2:c.1487A>G	ENSP00000506634.2:p.Gln496Arg
ENST00000680768.2:c.1553A>G	ENSP00000506359.2:p.Gln518Arg
ENST00000681989.1:n.1594A>G
ENST00000682207.1:n.916A>G
ENST00000682238.1:c.3086A>G	ENSP00000508124.1:p.Gln1029Arg
ENST00000682322.1:c.1487A>G	ENSP00000507690.1:p.Gln496Arg
ENST00000682600.1:c.1553A>G	ENSP00000507640.1:p.Gln518Arg
ENST00000682769.1:n.1388A>G
ENST00000683503.1:n.2611A>G
ENST00000683509.1:n.2274A>G
ENST00000683675.1:n.1895A>G
ENST00000683709.1:n.2275A>G
ENST00000683957.1:n.4249A>G
ENST00000683995.1:n.941A>G
ENST00000684072.1:n.1025A>G
ENST00000684103.1:n.1204A>G
ENST00000684130.1:c.3377A>G	ENSP00000508037.1:p.Gln1126Arg
ENST00000684342.1:n.1840A>G
ENST00000684350.1:n.2611A>G
ENST00000343523.7:c.2651A>G	ENSP00000340057.4:p.Gln884Arg
ENST00000357033.9:c.10796A>G MANE Select	ENSP00000354923.3:p.Gln3599Arg
ENST00000619831.5:c.6764A>G	ENSP00000479270.2:p.Gln2255Arg
ENST00000620040.5:c.3335+42A>G	ENSP00000478150.2:n.3335+42A>G
ENST00000679437.1:c.458A>G	ENSP00000506629.1:p.Gln153Arg
ENST00000679641.1:c.*468A>G	ENSP00000506135.1:n.*468A>G
ENST00000679706.1:c.423A>G
ENST00000679850.1:n.5807A>G
ENST00000680162.1:c.1469A>G	ENSP00000506634.1:p.Gln490Arg
ENST00000680355.1:c.1262A>G	ENSP00000506257.1:p.Gln421Arg
ENST00000680557.1:c.604-13082A>G	ENSP00000505164.1:n.604-13082A>G
ENST00000680701.1:n.571A>G
ENST00000680768.1:c.1496A>G	ENSP00000506359.1:p.Gln499Arg
ENST00000680961.1:c.*759A>G	ENSP00000506386.1:n.*759A>G
ENST00000681026.1:c.458A>G	ENSP00000506689.1:p.Gln153Arg
ENST00000681153.1:c.1553A>G	ENSP00000505124.1:p.Gln518Arg
ENST00000343523.6:c.2609A>G	ENSP00000340057.3:p.Gln870Arg
ENST00000357033.8:c.10796A>G	ENSP00000354923.3:p.Gln3599Arg
ENST00000358062.6:c.3845A>G	ENSP00000350765.2:p.Gln1282Arg
ENST00000359836.5:c.3377A>G	ENSP00000352894.1:p.Gln1126Arg
ENST00000361471.8:c.1553A>G	ENSP00000354464.4:p.Gln518Arg
ENST00000378677.6:c.10784A>G	ENSP00000367948.2:p.Gln3595Arg
ENST00000378680.6:c.1262A>G	ENSP00000367951.2:p.Gln421Arg
ENST00000378702.8:c.1592A>G	ENSP00000367974.4:p.Gln531Arg
ENST00000378707.7:c.3416A>G	ENSP00000367979.3:p.Gln1139Arg
ENST00000378723.7:c.1592A>G	ENSP00000367997.3:p.Gln531Arg
ENST00000474231.5:c.3416A>G	ENSP00000417123.1:p.Gln1139Arg
ENST00000481143.2:n.114+22167A>G
ENST00000541735.5:c.3086A>G	ENSP00000444119.1:p.Gln1029Arg
ENST00000619831.4:c.10781A>G	ENSP00000479270.1:p.Gln3594Arg
ENST00000620040.4:c.10793A>G	ENSP00000478150.1:p.Gln3598Arg
NM_000109.3:c.10772A>G	NP_000100.2:p.Gln3591Arg
NM_004006.2:c.10796A>G , LRG_199t1:c.10796A>G	NP_003997.1:p.Gln3599Arg
NM_004009.3:c.10784A>G	NP_004000.1:p.Gln3595Arg
NM_004010.3:c.10427A>G	NP_004001.1:p.Gln3476Arg
NM_004011.3:c.6773A>G	NP_004002.2:p.Gln2258Arg
NM_004012.3:c.6764A>G	NP_004003.1:p.Gln2255Arg
NM_004013.2:c.3416A>G	NP_004004.1:p.Gln1139Arg
NM_004014.2:c.2609A>G	NP_004005.1:p.Gln870Arg
NM_004015.2:c.1592A>G	NP_004006.1:p.Gln531Arg
NM_004016.2:c.1592A>G	NP_004007.1:p.Gln531Arg
NM_004017.2:c.1553A>G	NP_004008.1:p.Gln518Arg
NM_004018.2:c.1553A>G	NP_004009.1:p.Gln518Arg
NM_004020.3:c.3086A>G	NP_004011.2:p.Gln1029Arg
NM_004021.2:c.3416A>G	NP_004012.1:p.Gln1139Arg
NM_004022.2:c.3377A>G	NP_004013.1:p.Gln1126Arg
NM_004023.2:c.3086A>G	NP_004014.1:p.Gln1029Arg
XM_006724468.2:c.10796A>G	XP_006724531.1:p.Gln3599Arg
XM_006724469.2:c.10772A>G	XP_006724532.1:p.Gln3591Arg
XM_006724470.2:c.10757A>G	XP_006724533.1:p.Gln3586Arg
XM_006724471.2:c.10691A>G	XP_006724534.1:p.Gln3564Arg
XM_006724472.2:c.10667A>G	XP_006724535.1:p.Gln3556Arg
XM_006724473.2:c.10658A>G	XP_006724536.1:p.Gln3553Arg
XM_006724474.2:c.10466A>G	XP_006724537.1:p.Gln3489Arg
XM_006724475.2:c.10466A>G	XP_006724538.1:p.Gln3489Arg
XM_011545467.1:c.10673A>G	XP_011543769.1:p.Gln3558Arg
XM_006724469.3:c.10772A>G	XP_006724532.1:p.Gln3591Arg
XM_006724470.3:c.10757A>G	XP_006724533.1:p.Gln3586Arg
XM_006724474.3:c.10466A>G	XP_006724537.1:p.Gln3489Arg
XM_017029328.1:c.10757A>G	XP_016884817.1:p.Gln3586Arg
XM_017029331.1:c.4970A>G	XP_016884820.1:p.Gln1657Arg
NM_000109.4:c.10772A>G	NP_000100.3:p.Gln3591Arg
NM_004006.3:c.10796A>G MANE Select	NP_003997.2:p.Gln3599Arg
NM_004011.4:c.6773A>G	NP_004002.3:p.Gln2258Arg
NM_004012.4:c.6764A>G	NP_004003.2:p.Gln2255Arg
NM_004015.3:c.1592A>G	NP_004006.1:p.Gln531Arg
NM_004016.3:c.1592A>G	NP_004007.1:p.Gln531Arg
NM_004017.3:c.1553A>G	NP_004008.1:p.Gln518Arg
NM_004018.3:c.1553A>G	NP_004009.1:p.Gln518Arg
NM_004021.3:c.3416A>G	NP_004012.2:p.Gln1139Arg
NM_004023.3:c.3086A>G	NP_004014.2:p.Gln1029Arg
NM_004013.3:c.3416A>G	NP_004004.2:p.Gln1139Arg
NM_004014.3:c.2609A>G	NP_004005.2:p.Gln870Arg
NM_004020.4:c.3086A>G	NP_004011.3:p.Gln1029Arg
NM_004022.3:c.3377A>G	NP_004013.2:p.Gln1126Arg