Canonical Allele Identifier: CA412652008

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31169571G>C , CM000685.2:g.31169571G>C	GRCh38
NC_000023.10:g.31187688G>C , CM000685.1:g.31187688G>C	GRCh37
NC_000023.9:g.31097609G>C	NCBI36
NG_012232.1:g.2175039C>G , LRG_199:g.2175039C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10425C>G MANE Select	NP_003997.2:p.Tyr3475Ter
ENST00000357033.9:c.10425C>G MANE Select	ENSP00000354923.3:p.Tyr3475Ter
NM_000109.3:c.10401C>G	NP_000100.2:p.Tyr3467Ter
NM_000109.4:c.10401C>G	NP_000100.3:p.Tyr3467Ter
NM_004006.2:c.10425C>G , LRG_199t1:c.10425C>G	NP_003997.1:p.Tyr3475Ter
NM_004009.3:c.10413C>G	NP_004000.1:p.Tyr3471Ter
NM_004010.3:c.10056C>G	NP_004001.1:p.Tyr3352Ter
NM_004011.3:c.6402C>G	NP_004002.2:p.Tyr2134Ter
NM_004011.4:c.6402C>G	NP_004002.3:p.Tyr2134Ter
NM_004012.3:c.6393C>G	NP_004003.1:p.Tyr2131Ter
NM_004012.4:c.6393C>G	NP_004003.2:p.Tyr2131Ter
NM_004013.2:c.3045C>G	NP_004004.1:p.Tyr1015Ter
NM_004013.3:c.3045C>G	NP_004004.2:p.Tyr1015Ter
NM_004014.2:c.2238C>G	NP_004005.1:p.Tyr746Ter
NM_004014.3:c.2238C>G	NP_004005.2:p.Tyr746Ter
NM_004015.2:c.1221C>G	NP_004006.1:p.Tyr407Ter
NM_004015.3:c.1221C>G	NP_004006.1:p.Tyr407Ter
NM_004016.2:c.1221C>G	NP_004007.1:p.Tyr407Ter
NM_004016.3:c.1221C>G	NP_004007.1:p.Tyr407Ter
NM_004017.2:c.1182C>G	NP_004008.1:p.Tyr394Ter
NM_004017.3:c.1182C>G	NP_004008.1:p.Tyr394Ter
NM_004018.2:c.1182C>G	NP_004009.1:p.Tyr394Ter
NM_004018.3:c.1182C>G	NP_004009.1:p.Tyr394Ter
NM_004020.3:c.2843+9098C>G	NP_004011.2:n.2843+9098C>G
NM_004020.4:c.2843+9098C>G	NP_004011.3:n.2843+9098C>G
NM_004021.2:c.3045C>G	NP_004012.1:p.Tyr1015Ter
NM_004021.3:c.3045C>G	NP_004012.2:p.Tyr1015Ter
NM_004022.2:c.3006C>G	NP_004013.1:p.Tyr1002Ter
NM_004022.3:c.3006C>G	NP_004013.2:p.Tyr1002Ter
NM_004023.2:c.2843+9098C>G	NP_004014.1:n.2843+9098C>G
NM_004023.3:c.2843+9098C>G	NP_004014.2:n.2843+9098C>G
ENST00000343523.6:c.2238C>G	ENSP00000340057.3:p.Tyr746Ter
ENST00000343523.7:c.2280C>G	ENSP00000340057.4:p.Tyr760Ter
ENST00000357033.8:c.10425C>G	ENSP00000354923.3:p.Tyr3475Ter
ENST00000358062.6:c.3474C>G	ENSP00000350765.2:p.Tyr1158Ter
ENST00000358062.7:c.5232C>G	ENSP00000350765.3:p.Tyr1744Ter
ENST00000359836.5:c.3006C>G	ENSP00000352894.1:p.Tyr1002Ter
ENST00000361471.8:c.1182C>G	ENSP00000354464.4:p.Tyr394Ter
ENST00000378677.6:c.10413C>G	ENSP00000367948.2:p.Tyr3471Ter
ENST00000378680.6:c.1019+9098C>G	ENSP00000367951.2:n.1019+9098C>G
ENST00000378702.8:c.1221C>G	ENSP00000367974.4:p.Tyr407Ter
ENST00000378707.7:c.3045C>G	ENSP00000367979.3:p.Tyr1015Ter
ENST00000378723.7:c.1221C>G	ENSP00000367997.3:p.Tyr407Ter
ENST00000474231.5:c.3045C>G	ENSP00000417123.1:p.Tyr1015Ter
ENST00000541735.5:c.2843+9098C>G	ENSP00000444119.1:n.2843+9098C>G
ENST00000619831.4:c.10410C>G	ENSP00000479270.1:p.Tyr3470Ter
ENST00000619831.5:c.6393C>G	ENSP00000479270.2:p.Tyr2131Ter
ENST00000620040.4:c.10422C>G	ENSP00000478150.1:p.Tyr3474Ter
ENST00000620040.5:c.3006C>G	ENSP00000478150.2:p.Tyr1002Ter
ENST00000679437.1:c.87C>G	ENSP00000506629.1:p.Tyr29Ter
ENST00000679641.1:c.*225+9098C>G	ENSP00000506135.1:n.*225+9098C>G
ENST00000679706.1:c.180+9098C>G
ENST00000679850.1:n.5436C>G
ENST00000680162.1:c.1098C>G	ENSP00000506634.1:p.Tyr366Ter
ENST00000680162.2:c.1116C>G	ENSP00000506634.2:p.Tyr372Ter
ENST00000680355.1:c.1019+9098C>G	ENSP00000506257.1:n.1019+9098C>G
ENST00000680557.1:c.603+34390C>G	ENSP00000505164.1:n.603+34390C>G
ENST00000680701.1:n.200C>G
ENST00000680768.1:c.1125C>G	ENSP00000506359.1:p.Tyr375Ter
ENST00000680768.2:c.1182C>G	ENSP00000506359.2:p.Tyr394Ter
ENST00000680961.1:c.*388C>G	ENSP00000506386.1:n.*388C>G
ENST00000681026.1:c.87C>G	ENSP00000506689.1:p.Tyr29Ter
ENST00000681153.1:c.1182C>G	ENSP00000505124.1:p.Tyr394Ter
ENST00000681989.1:n.1223C>G
ENST00000682207.1:n.545C>G
ENST00000682238.1:c.2843+9098C>G	ENSP00000508124.1:n.2843+9098C>G
ENST00000682322.1:c.1116C>G	ENSP00000507690.1:p.Tyr372Ter
ENST00000682600.1:c.1182C>G	ENSP00000507640.1:p.Tyr394Ter
ENST00000682769.1:n.1017C>G
ENST00000683503.1:n.2240C>G
ENST00000683509.1:n.1903C>G
ENST00000683675.1:n.1524C>G
ENST00000683709.1:n.1904C>G
ENST00000683957.1:n.3878C>G
ENST00000683995.1:n.570C>G
ENST00000684072.1:n.654C>G
ENST00000684130.1:c.3006C>G	ENSP00000508037.1:p.Tyr1002Ter
ENST00000684342.1:n.1469C>G
ENST00000684350.1:n.2240C>G
XM_006724468.2:c.10425C>G	XP_006724531.1:p.Tyr3475Ter
XM_006724469.2:c.10401C>G	XP_006724532.1:p.Tyr3467Ter
XM_006724469.3:c.10401C>G	XP_006724532.1:p.Tyr3467Ter
XM_006724470.2:c.10386C>G	XP_006724533.1:p.Tyr3462Ter
XM_006724470.3:c.10386C>G	XP_006724533.1:p.Tyr3462Ter
XM_006724471.2:c.10320C>G	XP_006724534.1:p.Tyr3440Ter
XM_006724472.2:c.10296C>G	XP_006724535.1:p.Tyr3432Ter
XM_006724473.2:c.10287C>G	XP_006724536.1:p.Tyr3429Ter
XM_006724474.2:c.10223+9098C>G	XP_006724537.1:n.10223+9098C>G
XM_006724474.3:c.10223+9098C>G	XP_006724537.1:n.10223+9098C>G
XM_006724475.2:c.10223+9098C>G	XP_006724538.1:n.10223+9098C>G
XM_011545467.1:c.10302C>G	XP_011543769.1:p.Tyr3434Ter
XM_017029328.1:c.10386C>G	XP_016884817.1:p.Tyr3462Ter
XM_017029331.1:c.4599C>G	XP_016884820.1:p.Tyr1533Ter