Canonical Allele Identifier: CA412655492

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31496852A>T , CM000685.2:g.31496852A>T	GRCh38
NC_000023.10:g.31514969A>T , CM000685.1:g.31514969A>T	GRCh37
NC_000023.9:g.31424890A>T	NCBI36
NG_012232.1:g.1847758T>A , LRG_199:g.1847758T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.8483T>A MANE Select	NP_003997.2:p.Leu2828Ter
ENST00000357033.9:c.8483T>A MANE Select	ENSP00000354923.3:p.Leu2828Ter
NM_000109.3:c.8459T>A	NP_000100.2:p.Leu2820Ter
NM_000109.4:c.8459T>A	NP_000100.3:p.Leu2820Ter
NM_004006.2:c.8483T>A , LRG_199t1:c.8483T>A	NP_003997.1:p.Leu2828Ter
NM_004009.3:c.8471T>A	NP_004000.1:p.Leu2824Ter
NM_004010.3:c.8114T>A	NP_004001.1:p.Leu2705Ter
NM_004011.3:c.4460T>A	NP_004002.2:p.Leu1487Ter
NM_004011.4:c.4460T>A	NP_004002.3:p.Leu1487Ter
NM_004012.3:c.4451T>A	NP_004003.1:p.Leu1484Ter
NM_004012.4:c.4451T>A	NP_004003.2:p.Leu1484Ter
NM_004013.2:c.1103T>A	NP_004004.1:p.Leu368Ter
NM_004013.3:c.1103T>A	NP_004004.2:p.Leu368Ter
NM_004014.2:c.296T>A	NP_004005.1:p.Leu99Ter
NM_004014.3:c.296T>A	NP_004005.2:p.Leu99Ter
NM_004020.3:c.1103T>A	NP_004011.2:p.Leu368Ter
NM_004020.4:c.1103T>A	NP_004011.3:p.Leu368Ter
NM_004021.2:c.1103T>A	NP_004012.1:p.Leu368Ter
NM_004021.3:c.1103T>A	NP_004012.2:p.Leu368Ter
NM_004022.2:c.1103T>A	NP_004013.1:p.Leu368Ter
NM_004022.3:c.1103T>A	NP_004013.2:p.Leu368Ter
NM_004023.2:c.1103T>A	NP_004014.1:p.Leu368Ter
NM_004023.3:c.1103T>A	NP_004014.2:p.Leu368Ter
ENST00000343523.6:c.296T>A	ENSP00000340057.3:p.Leu99Ter
ENST00000343523.7:c.338T>A	ENSP00000340057.4:p.Leu113Ter
ENST00000357033.8:c.8483T>A	ENSP00000354923.3:p.Leu2828Ter
ENST00000358062.6:c.1571T>A	ENSP00000350765.2:p.Leu524Ter
ENST00000358062.7:c.3329T>A	ENSP00000350765.3:p.Leu1110Ter
ENST00000359836.5:c.1103T>A	ENSP00000352894.1:p.Leu368Ter
ENST00000378677.6:c.8471T>A	ENSP00000367948.2:p.Leu2824Ter
ENST00000378707.7:c.1103T>A	ENSP00000367979.3:p.Leu368Ter
ENST00000445312.1:n.540T>A
ENST00000474231.5:c.1103T>A	ENSP00000417123.1:p.Leu368Ter
ENST00000541735.5:c.1103T>A	ENSP00000444119.1:p.Leu368Ter
ENST00000619831.4:c.8468T>A	ENSP00000479270.1:p.Leu2823Ter
ENST00000619831.5:c.4451T>A	ENSP00000479270.2:p.Leu1484Ter
ENST00000620040.4:c.8480T>A	ENSP00000478150.1:p.Leu2827Ter
ENST00000620040.5:c.1103T>A	ENSP00000478150.2:p.Leu368Ter
ENST00000680961.1:c.1103T>A	ENSP00000506386.1:p.Leu368Ter
ENST00000681646.1:n.2144T>A
ENST00000682238.1:c.1103T>A	ENSP00000508124.1:p.Leu368Ter
ENST00000683450.1:n.1948T>A
ENST00000683957.1:n.1975T>A
ENST00000684130.1:c.1103T>A	ENSP00000508037.1:p.Leu368Ter
XM_006724468.2:c.8483T>A	XP_006724531.1:p.Leu2828Ter
XM_006724469.2:c.8459T>A	XP_006724532.1:p.Leu2820Ter
XM_006724469.3:c.8459T>A	XP_006724532.1:p.Leu2820Ter
XM_006724470.2:c.8483T>A	XP_006724533.1:p.Leu2828Ter
XM_006724470.3:c.8483T>A	XP_006724533.1:p.Leu2828Ter
XM_006724471.2:c.8483T>A	XP_006724534.1:p.Leu2828Ter
XM_006724472.2:c.8354T>A	XP_006724535.1:p.Leu2785Ter
XM_006724473.2:c.8345T>A	XP_006724536.1:p.Leu2782Ter
XM_006724474.2:c.8483T>A	XP_006724537.1:p.Leu2828Ter
XM_006724474.3:c.8483T>A	XP_006724537.1:p.Leu2828Ter
XM_006724475.2:c.8483T>A	XP_006724538.1:p.Leu2828Ter
XM_011545467.1:c.8360T>A	XP_011543769.1:p.Leu2787Ter
XM_011545468.1:c.8483T>A	XP_011543770.1:p.Leu2828Ter
XM_011545468.2:c.8483T>A	XP_011543770.1:p.Leu2828Ter
XM_017029328.1:c.8483T>A	XP_016884817.1:p.Leu2828Ter
XM_017029331.1:c.2657T>A	XP_016884820.1:p.Leu886Ter