Canonical Allele Identifier: CA412649205

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147373G>A , CM000685.2:g.31147373G>A	GRCh38
NC_000023.10:g.31165490G>A , CM000685.1:g.31165490G>A	GRCh37
NC_000023.9:g.31075411G>A	NCBI36
NG_012232.1:g.2197237C>T , LRG_199:g.2197237C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10699C>T MANE Select	NP_003997.2:p.Gln3567Ter
ENST00000357033.9:c.10699C>T MANE Select	ENSP00000354923.3:p.Gln3567Ter
NM_000109.3:c.10675C>T	NP_000100.2:p.Gln3559Ter
NM_000109.4:c.10675C>T	NP_000100.3:p.Gln3559Ter
NM_004006.2:c.10699C>T , LRG_199t1:c.10699C>T	NP_003997.1:p.Gln3567Ter
NM_004009.3:c.10687C>T	NP_004000.1:p.Gln3563Ter
NM_004010.3:c.10330C>T	NP_004001.1:p.Gln3444Ter
NM_004011.3:c.6676C>T	NP_004002.2:p.Gln2226Ter
NM_004011.4:c.6676C>T	NP_004002.3:p.Gln2226Ter
NM_004012.3:c.6667C>T	NP_004003.1:p.Gln2223Ter
NM_004012.4:c.6667C>T	NP_004003.2:p.Gln2223Ter
NM_004013.2:c.3319C>T	NP_004004.1:p.Gln1107Ter
NM_004013.3:c.3319C>T	NP_004004.2:p.Gln1107Ter
NM_004014.2:c.2512C>T	NP_004005.1:p.Gln838Ter
NM_004014.3:c.2512C>T	NP_004005.2:p.Gln838Ter
NM_004015.2:c.1495C>T	NP_004006.1:p.Gln499Ter
NM_004015.3:c.1495C>T	NP_004006.1:p.Gln499Ter
NM_004016.2:c.1495C>T	NP_004007.1:p.Gln499Ter
NM_004016.3:c.1495C>T	NP_004007.1:p.Gln499Ter
NM_004017.2:c.1456C>T	NP_004008.1:p.Gln486Ter
NM_004017.3:c.1456C>T	NP_004008.1:p.Gln486Ter
NM_004018.2:c.1456C>T	NP_004009.1:p.Gln486Ter
NM_004018.3:c.1456C>T	NP_004009.1:p.Gln486Ter
NM_004020.3:c.2989C>T	NP_004011.2:p.Gln997Ter
NM_004020.4:c.2989C>T	NP_004011.3:p.Gln997Ter
NM_004021.2:c.3319C>T	NP_004012.1:p.Gln1107Ter
NM_004021.3:c.3319C>T	NP_004012.2:p.Gln1107Ter
NM_004022.2:c.3280C>T	NP_004013.1:p.Gln1094Ter
NM_004022.3:c.3280C>T	NP_004013.2:p.Gln1094Ter
NM_004023.2:c.2989C>T	NP_004014.1:p.Gln997Ter
NM_004023.3:c.2989C>T	NP_004014.2:p.Gln997Ter
ENST00000343523.6:c.2512C>T	ENSP00000340057.3:p.Gln838Ter
ENST00000343523.7:c.2554C>T	ENSP00000340057.4:p.Gln852Ter
ENST00000357033.8:c.10699C>T	ENSP00000354923.3:p.Gln3567Ter
ENST00000358062.6:c.3748C>T	ENSP00000350765.2:p.Gln1250Ter
ENST00000358062.7:c.5506C>T	ENSP00000350765.3:p.Gln1836Ter
ENST00000359836.5:c.3280C>T	ENSP00000352894.1:p.Gln1094Ter
ENST00000361471.8:c.1456C>T	ENSP00000354464.4:p.Gln486Ter
ENST00000378677.6:c.10687C>T	ENSP00000367948.2:p.Gln3563Ter
ENST00000378680.6:c.1165C>T	ENSP00000367951.2:p.Gln389Ter
ENST00000378702.8:c.1495C>T	ENSP00000367974.4:p.Gln499Ter
ENST00000378707.7:c.3319C>T	ENSP00000367979.3:p.Gln1107Ter
ENST00000378723.7:c.1495C>T	ENSP00000367997.3:p.Gln499Ter
ENST00000474231.5:c.3319C>T	ENSP00000417123.1:p.Gln1107Ter
ENST00000481143.2:n.114+22070C>T
ENST00000541735.5:c.2989C>T	ENSP00000444119.1:p.Gln997Ter
ENST00000619831.4:c.10684C>T	ENSP00000479270.1:p.Gln3562Ter
ENST00000619831.5:c.6667C>T	ENSP00000479270.2:p.Gln2223Ter
ENST00000620040.4:c.10696C>T	ENSP00000478150.1:p.Gln3566Ter
ENST00000620040.5:c.3280C>T	ENSP00000478150.2:p.Gln1094Ter
ENST00000679437.1:c.361C>T	ENSP00000506629.1:p.Gln121Ter
ENST00000679641.1:c.*371C>T	ENSP00000506135.1:n.*371C>T
ENST00000679706.1:c.326C>T
ENST00000679850.1:n.5710C>T
ENST00000680162.1:c.1372C>T	ENSP00000506634.1:p.Gln458Ter
ENST00000680162.2:c.1390C>T	ENSP00000506634.2:p.Gln464Ter
ENST00000680355.1:c.1165C>T	ENSP00000506257.1:p.Gln389Ter
ENST00000680557.1:c.604-13179C>T	ENSP00000505164.1:n.604-13179C>T
ENST00000680701.1:n.474C>T
ENST00000680768.1:c.1399C>T	ENSP00000506359.1:p.Gln467Ter
ENST00000680768.2:c.1456C>T	ENSP00000506359.2:p.Gln486Ter
ENST00000680961.1:c.*662C>T	ENSP00000506386.1:n.*662C>T
ENST00000681026.1:c.361C>T	ENSP00000506689.1:p.Gln121Ter
ENST00000681153.1:c.1456C>T	ENSP00000505124.1:p.Gln486Ter
ENST00000681989.1:n.1497C>T
ENST00000682207.1:n.819C>T
ENST00000682238.1:c.2989C>T	ENSP00000508124.1:p.Gln997Ter
ENST00000682322.1:c.1390C>T	ENSP00000507690.1:p.Gln464Ter
ENST00000682600.1:c.1456C>T	ENSP00000507640.1:p.Gln486Ter
ENST00000682769.1:n.1291C>T
ENST00000683503.1:n.2514C>T
ENST00000683509.1:n.2177C>T
ENST00000683675.1:n.1798C>T
ENST00000683709.1:n.2178C>T
ENST00000683957.1:n.4152C>T
ENST00000683995.1:n.844C>T
ENST00000684072.1:n.928C>T
ENST00000684103.1:n.1107C>T
ENST00000684130.1:c.3280C>T	ENSP00000508037.1:p.Gln1094Ter
ENST00000684342.1:n.1743C>T
ENST00000684350.1:n.2514C>T
XM_006724468.2:c.10699C>T	XP_006724531.1:p.Gln3567Ter
XM_006724469.2:c.10675C>T	XP_006724532.1:p.Gln3559Ter
XM_006724469.3:c.10675C>T	XP_006724532.1:p.Gln3559Ter
XM_006724470.2:c.10660C>T	XP_006724533.1:p.Gln3554Ter
XM_006724470.3:c.10660C>T	XP_006724533.1:p.Gln3554Ter
XM_006724471.2:c.10594C>T	XP_006724534.1:p.Gln3532Ter
XM_006724472.2:c.10570C>T	XP_006724535.1:p.Gln3524Ter
XM_006724473.2:c.10561C>T	XP_006724536.1:p.Gln3521Ter
XM_006724474.2:c.10369C>T	XP_006724537.1:p.Gln3457Ter
XM_006724474.3:c.10369C>T	XP_006724537.1:p.Gln3457Ter
XM_006724475.2:c.10369C>T	XP_006724538.1:p.Gln3457Ter
XM_011545467.1:c.10576C>T	XP_011543769.1:p.Gln3526Ter
XM_017029328.1:c.10660C>T	XP_016884817.1:p.Gln3554Ter
XM_017029331.1:c.4873C>T	XP_016884820.1:p.Gln1625Ter