Canonical Allele Identifier: CA10377548
Community Standard Title: NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31147395A>G , CM000685.2:g.31147395A>G GRCh38
NC_000023.10:g.31165512A>G , CM000685.1:g.31165512A>G GRCh37
NC_000023.9:g.31075433A>G NCBI36
NG_012232.1:g.2197215T>C , LRG_199:g.2197215T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.10677T>C MANE Select NP_003997.2:p.Ile3559=
ENST00000357033.9:c.10677T>C MANE Select ENSP00000354923.3:p.Ile3559=
NM_000109.3:c.10653T>C NP_000100.2:p.Ile3551=
NM_000109.4:c.10653T>C NP_000100.3:p.Ile3551=
NM_004006.2:c.10677T>C , LRG_199t1:c.10677T>C NP_003997.1:p.Ile3559=
NM_004009.3:c.10665T>C NP_004000.1:p.Ile3555=
NM_004010.3:c.10308T>C NP_004001.1:p.Ile3436=
NM_004011.3:c.6654T>C NP_004002.2:p.Ile2218=
NM_004011.4:c.6654T>C NP_004002.3:p.Ile2218=
NM_004012.3:c.6645T>C NP_004003.1:p.Ile2215=
NM_004012.4:c.6645T>C NP_004003.2:p.Ile2215=
NM_004013.2:c.3297T>C NP_004004.1:p.Ile1099=
NM_004013.3:c.3297T>C NP_004004.2:p.Ile1099=
NM_004014.2:c.2490T>C NP_004005.1:p.Ile830=
NM_004014.3:c.2490T>C NP_004005.2:p.Ile830=
NM_004015.2:c.1473T>C NP_004006.1:p.Ile491=
NM_004015.3:c.1473T>C NP_004006.1:p.Ile491=
NM_004016.2:c.1473T>C NP_004007.1:p.Ile491=
NM_004016.3:c.1473T>C NP_004007.1:p.Ile491=
NM_004017.2:c.1434T>C NP_004008.1:p.Ile478=
NM_004017.3:c.1434T>C NP_004008.1:p.Ile478=
NM_004018.2:c.1434T>C NP_004009.1:p.Ile478=
NM_004018.3:c.1434T>C NP_004009.1:p.Ile478=
NM_004020.3:c.2967T>C NP_004011.2:p.Ile989=
NM_004020.4:c.2967T>C NP_004011.3:p.Ile989=
NM_004021.2:c.3297T>C NP_004012.1:p.Ile1099=
NM_004021.3:c.3297T>C NP_004012.2:p.Ile1099=
NM_004022.2:c.3258T>C NP_004013.1:p.Ile1086=
NM_004022.3:c.3258T>C NP_004013.2:p.Ile1086=
NM_004023.2:c.2967T>C NP_004014.1:p.Ile989=
NM_004023.3:c.2967T>C NP_004014.2:p.Ile989=
ENST00000343523.6:c.2490T>C ENSP00000340057.3:p.Ile830=
ENST00000343523.7:c.2532T>C ENSP00000340057.4:p.Ile844=
ENST00000357033.8:c.10677T>C ENSP00000354923.3:p.Ile3559=
ENST00000358062.6:c.3726T>C ENSP00000350765.2:p.Ile1242=
ENST00000358062.7:c.5484T>C ENSP00000350765.3:p.Ile1828=
ENST00000359836.5:c.3258T>C ENSP00000352894.1:p.Ile1086=
ENST00000361471.8:c.1434T>C ENSP00000354464.4:p.Ile478=
ENST00000378677.6:c.10665T>C ENSP00000367948.2:p.Ile3555=
ENST00000378680.6:c.1143T>C ENSP00000367951.2:p.Ile381=
ENST00000378702.8:c.1473T>C ENSP00000367974.4:p.Ile491=
ENST00000378707.7:c.3297T>C ENSP00000367979.3:p.Ile1099=
ENST00000378723.7:c.1473T>C ENSP00000367997.3:p.Ile491=
ENST00000474231.5:c.3297T>C ENSP00000417123.1:p.Ile1099=
ENST00000481143.2:n.114+22048T>C
ENST00000541735.5:c.2967T>C ENSP00000444119.1:p.Ile989=
ENST00000619831.4:c.10662T>C ENSP00000479270.1:p.Ile3554=
ENST00000619831.5:c.6645T>C ENSP00000479270.2:p.Ile2215=
ENST00000620040.4:c.10674T>C ENSP00000478150.1:p.Ile3558=
ENST00000620040.5:c.3258T>C ENSP00000478150.2:p.Ile1086=
ENST00000679437.1:c.339T>C ENSP00000506629.1:p.Ile113=
ENST00000679641.1:c.*349T>C ENSP00000506135.1:n.*349T>C
ENST00000679706.1:c.304T>C
ENST00000679850.1:n.5688T>C
ENST00000680162.1:c.1350T>C ENSP00000506634.1:p.Ile450=
ENST00000680162.2:c.1368T>C ENSP00000506634.2:p.Ile456=
ENST00000680355.1:c.1143T>C ENSP00000506257.1:p.Ile381=
ENST00000680557.1:c.604-13201T>C ENSP00000505164.1:n.604-13201T>C
ENST00000680701.1:n.452T>C
ENST00000680768.1:c.1377T>C ENSP00000506359.1:p.Ile459=
ENST00000680768.2:c.1434T>C ENSP00000506359.2:p.Ile478=
ENST00000680961.1:c.*640T>C ENSP00000506386.1:n.*640T>C
ENST00000681026.1:c.339T>C ENSP00000506689.1:p.Ile113=
ENST00000681153.1:c.1434T>C ENSP00000505124.1:p.Ile478=
ENST00000681989.1:n.1475T>C
ENST00000682207.1:n.797T>C
ENST00000682238.1:c.2967T>C ENSP00000508124.1:p.Ile989=
ENST00000682322.1:c.1368T>C ENSP00000507690.1:p.Ile456=
ENST00000682600.1:c.1434T>C ENSP00000507640.1:p.Ile478=
ENST00000682769.1:n.1269T>C
ENST00000683503.1:n.2492T>C
ENST00000683509.1:n.2155T>C
ENST00000683675.1:n.1776T>C
ENST00000683709.1:n.2156T>C
ENST00000683957.1:n.4130T>C
ENST00000683995.1:n.822T>C
ENST00000684072.1:n.906T>C
ENST00000684103.1:n.1085T>C
ENST00000684130.1:c.3258T>C ENSP00000508037.1:p.Ile1086=
ENST00000684342.1:n.1721T>C
ENST00000684350.1:n.2492T>C
XM_006724468.2:c.10677T>C XP_006724531.1:p.Ile3559=
XM_006724469.2:c.10653T>C XP_006724532.1:p.Ile3551=
XM_006724469.3:c.10653T>C XP_006724532.1:p.Ile3551=
XM_006724470.2:c.10638T>C XP_006724533.1:p.Ile3546=
XM_006724470.3:c.10638T>C XP_006724533.1:p.Ile3546=
XM_006724471.2:c.10572T>C XP_006724534.1:p.Ile3524=
XM_006724472.2:c.10548T>C XP_006724535.1:p.Ile3516=
XM_006724473.2:c.10539T>C XP_006724536.1:p.Ile3513=
XM_006724474.2:c.10347T>C XP_006724537.1:p.Ile3449=
XM_006724474.3:c.10347T>C XP_006724537.1:p.Ile3449=
XM_006724475.2:c.10347T>C XP_006724538.1:p.Ile3449=
XM_011545467.1:c.10554T>C XP_011543769.1:p.Ile3518=
XM_017029328.1:c.10638T>C XP_016884817.1:p.Ile3546=
XM_017029331.1:c.4851T>C XP_016884820.1:p.Ile1617=