Canonical Allele Identifier: CA412649008

Gene: DMD

Linked Data

• ClinVar Variation Id: 526051
• ClinVar RCV Id: RCV000630504
• dbSNP Id: rs1385794215
• MyVariant Identifiers: chrX:g.31165406G>A (hg19) ; chrX:g.31147289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147289G>A , CM000685.2:g.31147289G>A	GRCh38
NC_000023.10:g.31165406G>A , CM000685.1:g.31165406G>A	GRCh37
NC_000023.9:g.31075327G>A	NCBI36
NG_012232.1:g.2197321C>T , LRG_199:g.2197321C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.5590C>T	ENSP00000350765.3:p.Gln1864Ter
ENST00000680162.2:c.1474C>T	ENSP00000506634.2:p.Gln492Ter
ENST00000680768.2:c.1540C>T	ENSP00000506359.2:p.Gln514Ter
ENST00000681989.1:n.1581C>T
ENST00000682207.1:n.903C>T
ENST00000682238.1:c.3073C>T	ENSP00000508124.1:p.Gln1025Ter
ENST00000682322.1:c.1474C>T	ENSP00000507690.1:p.Gln492Ter
ENST00000682600.1:c.1540C>T	ENSP00000507640.1:p.Gln514Ter
ENST00000682769.1:n.1375C>T
ENST00000683503.1:n.2598C>T
ENST00000683509.1:n.2261C>T
ENST00000683675.1:n.1882C>T
ENST00000683709.1:n.2262C>T
ENST00000683957.1:n.4236C>T
ENST00000683995.1:n.928C>T
ENST00000684072.1:n.1012C>T
ENST00000684103.1:n.1191C>T
ENST00000684130.1:c.3364C>T	ENSP00000508037.1:p.Gln1122Ter
ENST00000684342.1:n.1827C>T
ENST00000684350.1:n.2598C>T
ENST00000343523.7:c.2638C>T	ENSP00000340057.4:p.Gln880Ter
ENST00000357033.9:c.10783C>T MANE Select	ENSP00000354923.3:p.Gln3595Ter
ENST00000619831.5:c.6751C>T	ENSP00000479270.2:p.Gln2251Ter
ENST00000620040.5:c.3335+29C>T	ENSP00000478150.2:n.3335+29C>T
ENST00000679437.1:c.445C>T	ENSP00000506629.1:p.Gln149Ter
ENST00000679641.1:c.*455C>T	ENSP00000506135.1:n.*455C>T
ENST00000679706.1:c.410C>T
ENST00000679850.1:n.5794C>T
ENST00000680162.1:c.1456C>T	ENSP00000506634.1:p.Gln486Ter
ENST00000680355.1:c.1249C>T	ENSP00000506257.1:p.Gln417Ter
ENST00000680557.1:c.604-13095C>T	ENSP00000505164.1:n.604-13095C>T
ENST00000680701.1:n.558C>T
ENST00000680768.1:c.1483C>T	ENSP00000506359.1:p.Gln495Ter
ENST00000680961.1:c.*746C>T	ENSP00000506386.1:n.*746C>T
ENST00000681026.1:c.445C>T	ENSP00000506689.1:p.Gln149Ter
ENST00000681153.1:c.1540C>T	ENSP00000505124.1:p.Gln514Ter
ENST00000343523.6:c.2596C>T	ENSP00000340057.3:p.Gln866Ter
ENST00000357033.8:c.10783C>T	ENSP00000354923.3:p.Gln3595Ter
ENST00000358062.6:c.3832C>T	ENSP00000350765.2:p.Gln1278Ter
ENST00000359836.5:c.3364C>T	ENSP00000352894.1:p.Gln1122Ter
ENST00000361471.8:c.1540C>T	ENSP00000354464.4:p.Gln514Ter
ENST00000378677.6:c.10771C>T	ENSP00000367948.2:p.Gln3591Ter
ENST00000378680.6:c.1249C>T	ENSP00000367951.2:p.Gln417Ter
ENST00000378702.8:c.1579C>T	ENSP00000367974.4:p.Gln527Ter
ENST00000378707.7:c.3403C>T	ENSP00000367979.3:p.Gln1135Ter
ENST00000378723.7:c.1579C>T	ENSP00000367997.3:p.Gln527Ter
ENST00000474231.5:c.3403C>T	ENSP00000417123.1:p.Gln1135Ter
ENST00000481143.2:n.114+22154C>T
ENST00000541735.5:c.3073C>T	ENSP00000444119.1:p.Gln1025Ter
ENST00000619831.4:c.10768C>T	ENSP00000479270.1:p.Gln3590Ter
ENST00000620040.4:c.10780C>T	ENSP00000478150.1:p.Gln3594Ter
NM_000109.3:c.10759C>T	NP_000100.2:p.Gln3587Ter
NM_004006.2:c.10783C>T , LRG_199t1:c.10783C>T	NP_003997.1:p.Gln3595Ter
NM_004009.3:c.10771C>T	NP_004000.1:p.Gln3591Ter
NM_004010.3:c.10414C>T	NP_004001.1:p.Gln3472Ter
NM_004011.3:c.6760C>T	NP_004002.2:p.Gln2254Ter
NM_004012.3:c.6751C>T	NP_004003.1:p.Gln2251Ter
NM_004013.2:c.3403C>T	NP_004004.1:p.Gln1135Ter
NM_004014.2:c.2596C>T	NP_004005.1:p.Gln866Ter
NM_004015.2:c.1579C>T	NP_004006.1:p.Gln527Ter
NM_004016.2:c.1579C>T	NP_004007.1:p.Gln527Ter
NM_004017.2:c.1540C>T	NP_004008.1:p.Gln514Ter
NM_004018.2:c.1540C>T	NP_004009.1:p.Gln514Ter
NM_004020.3:c.3073C>T	NP_004011.2:p.Gln1025Ter
NM_004021.2:c.3403C>T	NP_004012.1:p.Gln1135Ter
NM_004022.2:c.3364C>T	NP_004013.1:p.Gln1122Ter
NM_004023.2:c.3073C>T	NP_004014.1:p.Gln1025Ter
XM_006724468.2:c.10783C>T	XP_006724531.1:p.Gln3595Ter
XM_006724469.2:c.10759C>T	XP_006724532.1:p.Gln3587Ter
XM_006724470.2:c.10744C>T	XP_006724533.1:p.Gln3582Ter
XM_006724471.2:c.10678C>T	XP_006724534.1:p.Gln3560Ter
XM_006724472.2:c.10654C>T	XP_006724535.1:p.Gln3552Ter
XM_006724473.2:c.10645C>T	XP_006724536.1:p.Gln3549Ter
XM_006724474.2:c.10453C>T	XP_006724537.1:p.Gln3485Ter
XM_006724475.2:c.10453C>T	XP_006724538.1:p.Gln3485Ter
XM_011545467.1:c.10660C>T	XP_011543769.1:p.Gln3554Ter
XM_006724469.3:c.10759C>T	XP_006724532.1:p.Gln3587Ter
XM_006724470.3:c.10744C>T	XP_006724533.1:p.Gln3582Ter
XM_006724474.3:c.10453C>T	XP_006724537.1:p.Gln3485Ter
XM_017029328.1:c.10744C>T	XP_016884817.1:p.Gln3582Ter
XM_017029331.1:c.4957C>T	XP_016884820.1:p.Gln1653Ter
NM_000109.4:c.10759C>T	NP_000100.3:p.Gln3587Ter
NM_004006.3:c.10783C>T MANE Select	NP_003997.2:p.Gln3595Ter
NM_004011.4:c.6760C>T	NP_004002.3:p.Gln2254Ter
NM_004012.4:c.6751C>T	NP_004003.2:p.Gln2251Ter
NM_004015.3:c.1579C>T	NP_004006.1:p.Gln527Ter
NM_004016.3:c.1579C>T	NP_004007.1:p.Gln527Ter
NM_004017.3:c.1540C>T	NP_004008.1:p.Gln514Ter
NM_004018.3:c.1540C>T	NP_004009.1:p.Gln514Ter
NM_004021.3:c.3403C>T	NP_004012.2:p.Gln1135Ter
NM_004023.3:c.3073C>T	NP_004014.2:p.Gln1025Ter
NM_004013.3:c.3403C>T	NP_004004.2:p.Gln1135Ter
NM_004014.3:c.2596C>T	NP_004005.2:p.Gln866Ter
NM_004020.4:c.3073C>T	NP_004011.3:p.Gln1025Ter
NM_004022.3:c.3364C>T	NP_004013.2:p.Gln1122Ter