Canonical Allele Identifier: CA273082

Gene: DMD

Linked Data

• ClinVar Variation Id: 11288
• ClinVar RCV Id: RCV000012040 ; RCV000150057 ; RCV000515392
• dbSNP Id: rs128627256
• ExAC: X:31496447 G / A
• COSMIC: COSM5103036 ; COSM5103039
• MyVariant Identifiers: chrX:g.31496447G>A (hg19) ; chrX:g.31478330G>A (hg38)
• PubMed: PMID:7611292 ; PMID:15643612 ; PMID:19530190 ; PMID:23756440 ; PMID:23891399 ; PMID:24349052

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31478330G>A , CM000685.2:g.31478330G>A	GRCh38
NC_000023.10:g.31496447G>A , CM000685.1:g.31496447G>A	GRCh37
NC_000023.9:g.31406368G>A	NCBI36
NG_012232.1:g.1866280C>T , LRG_199:g.1866280C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.3559C>T	ENSP00000350765.3:p.Arg1187Ter
ENST00000682238.1:c.1333C>T	ENSP00000508124.1:p.Arg445Ter
ENST00000683450.1:n.2178C>T
ENST00000683957.1:n.2205C>T
ENST00000684130.1:c.1333C>T	ENSP00000508037.1:p.Arg445Ter
ENST00000343523.7:c.568C>T	ENSP00000340057.4:p.Arg190Ter
ENST00000357033.9:c.8713C>T MANE Select	ENSP00000354923.3:p.Arg2905Ter
ENST00000619831.5:c.4681C>T	ENSP00000479270.2:p.Arg1561Ter
ENST00000620040.5:c.1333C>T	ENSP00000478150.2:p.Arg445Ter
ENST00000680961.1:c.1333C>T	ENSP00000506386.1:p.Arg445Ter
ENST00000681646.1:n.2374C>T
ENST00000343523.6:c.526C>T	ENSP00000340057.3:p.Arg176Ter
ENST00000357033.8:c.8713C>T	ENSP00000354923.3:p.Arg2905Ter
ENST00000358062.6:c.1801C>T	ENSP00000350765.2:p.Arg601Ter
ENST00000359836.5:c.1333C>T	ENSP00000352894.1:p.Arg445Ter
ENST00000378677.6:c.8701C>T	ENSP00000367948.2:p.Arg2901Ter
ENST00000378707.7:c.1333C>T	ENSP00000367979.3:p.Arg445Ter
ENST00000445312.1:n.770C>T
ENST00000474231.5:c.1333C>T	ENSP00000417123.1:p.Arg445Ter
ENST00000541735.5:c.1333C>T	ENSP00000444119.1:p.Arg445Ter
ENST00000619831.4:c.8698C>T	ENSP00000479270.1:p.Arg2900Ter
ENST00000620040.4:c.8710C>T	ENSP00000478150.1:p.Arg2904Ter
NM_000109.3:c.8689C>T	NP_000100.2:p.Arg2897Ter
NM_004006.2:c.8713C>T , LRG_199t1:c.8713C>T	NP_003997.1:p.Arg2905Ter
NM_004009.3:c.8701C>T	NP_004000.1:p.Arg2901Ter
NM_004010.3:c.8344C>T	NP_004001.1:p.Arg2782Ter
NM_004011.3:c.4690C>T	NP_004002.2:p.Arg1564Ter
NM_004012.3:c.4681C>T	NP_004003.1:p.Arg1561Ter
NM_004013.2:c.1333C>T	NP_004004.1:p.Arg445Ter
NM_004014.2:c.526C>T	NP_004005.1:p.Arg176Ter
NM_004020.3:c.1333C>T	NP_004011.2:p.Arg445Ter
NM_004021.2:c.1333C>T	NP_004012.1:p.Arg445Ter
NM_004022.2:c.1333C>T	NP_004013.1:p.Arg445Ter
NM_004023.2:c.1333C>T	NP_004014.1:p.Arg445Ter
XM_006724468.2:c.8713C>T	XP_006724531.1:p.Arg2905Ter
XM_006724469.2:c.8689C>T	XP_006724532.1:p.Arg2897Ter
XM_006724470.2:c.8713C>T	XP_006724533.1:p.Arg2905Ter
XM_006724471.2:c.8713C>T	XP_006724534.1:p.Arg2905Ter
XM_006724472.2:c.8584C>T	XP_006724535.1:p.Arg2862Ter
XM_006724473.2:c.8575C>T	XP_006724536.1:p.Arg2859Ter
XM_006724474.2:c.8713C>T	XP_006724537.1:p.Arg2905Ter
XM_006724475.2:c.8713C>T	XP_006724538.1:p.Arg2905Ter
XM_011545467.1:c.8590C>T	XP_011543769.1:p.Arg2864Ter
XM_011545468.1:c.8713C>T	XP_011543770.1:p.Arg2905Ter
XM_006724469.3:c.8689C>T	XP_006724532.1:p.Arg2897Ter
XM_006724470.3:c.8713C>T	XP_006724533.1:p.Arg2905Ter
XM_006724474.3:c.8713C>T	XP_006724537.1:p.Arg2905Ter
XM_011545468.2:c.8713C>T	XP_011543770.1:p.Arg2905Ter
XM_017029328.1:c.8713C>T	XP_016884817.1:p.Arg2905Ter
XM_017029331.1:c.2887C>T	XP_016884820.1:p.Arg963Ter
NM_000109.4:c.8689C>T	NP_000100.3:p.Arg2897Ter
NM_004006.3:c.8713C>T MANE Select	NP_003997.2:p.Arg2905Ter
NM_004011.4:c.4690C>T	NP_004002.3:p.Arg1564Ter
NM_004012.4:c.4681C>T	NP_004003.2:p.Arg1561Ter
NM_004021.3:c.1333C>T	NP_004012.2:p.Arg445Ter
NM_004023.3:c.1333C>T	NP_004014.2:p.Arg445Ter
NM_004013.3:c.1333C>T	NP_004004.2:p.Arg445Ter
NM_004014.3:c.526C>T	NP_004005.2:p.Arg176Ter
NM_004020.4:c.1333C>T	NP_004011.3:p.Arg445Ter
NM_004022.3:c.1333C>T	NP_004013.2:p.Arg445Ter