Canonical Allele Identifier: CA267169

Gene: DMD

Linked Data

• ClinVar Variation Id: 94810
• ClinVar RCV Id: RCV000080803 ; RCV000179204 ; RCV001831875 ; RCV004528291
• dbSNP Id: rs398124074
• COSMIC: COSM1120181 ; COSM1120183 ; COSM1120185 ; COSM1120186 ; COSM1599216
• MyVariant Identifiers: chrX:g.31497160G>A (hg19) ; chrX:g.31479043G>A (hg38)
• PubMed: PMID:16834926 ; PMID:17435279 ; PMID:17880784 ; PMID:20485447 ; PMID:21396098

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31479043G>A , CM000685.2:g.31479043G>A	GRCh38
NC_000023.10:g.31497160G>A , CM000685.1:g.31497160G>A	GRCh37
NC_000023.9:g.31407081G>A	NCBI36
NG_012232.1:g.1865567C>T , LRG_199:g.1865567C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3454C>T	ENSP00000350765.3:p.Arg1152Ter
ENST00000682238.1:c.1228C>T	ENSP00000508124.1:p.Arg410Ter
ENST00000683450.1:n.2073C>T
ENST00000683957.1:n.2100C>T
ENST00000684130.1:c.1228C>T	ENSP00000508037.1:p.Arg410Ter
ENST00000343523.7:c.463C>T	ENSP00000340057.4:p.Arg155Ter
ENST00000357033.9:c.8608C>T MANE Select	ENSP00000354923.3:p.Arg2870Ter
ENST00000619831.5:c.4576C>T	ENSP00000479270.2:p.Arg1526Ter
ENST00000620040.5:c.1228C>T	ENSP00000478150.2:p.Arg410Ter
ENST00000680961.1:c.1228C>T	ENSP00000506386.1:p.Arg410Ter
ENST00000681646.1:n.2269C>T
ENST00000343523.6:c.421C>T	ENSP00000340057.3:p.Arg141Ter
ENST00000357033.8:c.8608C>T	ENSP00000354923.3:p.Arg2870Ter
ENST00000358062.6:c.1696C>T	ENSP00000350765.2:p.Arg566Ter
ENST00000359836.5:c.1228C>T	ENSP00000352894.1:p.Arg410Ter
ENST00000378677.6:c.8596C>T	ENSP00000367948.2:p.Arg2866Ter
ENST00000378707.7:c.1228C>T	ENSP00000367979.3:p.Arg410Ter
ENST00000445312.1:n.665C>T
ENST00000474231.5:c.1228C>T	ENSP00000417123.1:p.Arg410Ter
ENST00000541735.5:c.1228C>T	ENSP00000444119.1:p.Arg410Ter
ENST00000619831.4:c.8593C>T	ENSP00000479270.1:p.Arg2865Ter
ENST00000620040.4:c.8605C>T	ENSP00000478150.1:p.Arg2869Ter
NM_000109.3:c.8584C>T	NP_000100.2:p.Arg2862Ter
NM_004006.2:c.8608C>T , LRG_199t1:c.8608C>T	NP_003997.1:p.Arg2870Ter
NM_004009.3:c.8596C>T	NP_004000.1:p.Arg2866Ter
NM_004010.3:c.8239C>T	NP_004001.1:p.Arg2747Ter
NM_004011.3:c.4585C>T	NP_004002.2:p.Arg1529Ter
NM_004012.3:c.4576C>T	NP_004003.1:p.Arg1526Ter
NM_004013.2:c.1228C>T	NP_004004.1:p.Arg410Ter
NM_004014.2:c.421C>T	NP_004005.1:p.Arg141Ter
NM_004020.3:c.1228C>T	NP_004011.2:p.Arg410Ter
NM_004021.2:c.1228C>T	NP_004012.1:p.Arg410Ter
NM_004022.2:c.1228C>T	NP_004013.1:p.Arg410Ter
NM_004023.2:c.1228C>T	NP_004014.1:p.Arg410Ter
XM_006724468.2:c.8608C>T	XP_006724531.1:p.Arg2870Ter
XM_006724469.2:c.8584C>T	XP_006724532.1:p.Arg2862Ter
XM_006724470.2:c.8608C>T	XP_006724533.1:p.Arg2870Ter
XM_006724471.2:c.8608C>T	XP_006724534.1:p.Arg2870Ter
XM_006724472.2:c.8479C>T	XP_006724535.1:p.Arg2827Ter
XM_006724473.2:c.8470C>T	XP_006724536.1:p.Arg2824Ter
XM_006724474.2:c.8608C>T	XP_006724537.1:p.Arg2870Ter
XM_006724475.2:c.8608C>T	XP_006724538.1:p.Arg2870Ter
XM_011545467.1:c.8485C>T	XP_011543769.1:p.Arg2829Ter
XM_011545468.1:c.8608C>T	XP_011543770.1:p.Arg2870Ter
XM_006724469.3:c.8584C>T	XP_006724532.1:p.Arg2862Ter
XM_006724470.3:c.8608C>T	XP_006724533.1:p.Arg2870Ter
XM_006724474.3:c.8608C>T	XP_006724537.1:p.Arg2870Ter
XM_011545468.2:c.8608C>T	XP_011543770.1:p.Arg2870Ter
XM_017029328.1:c.8608C>T	XP_016884817.1:p.Arg2870Ter
XM_017029331.1:c.2782C>T	XP_016884820.1:p.Arg928Ter
NM_000109.4:c.8584C>T	NP_000100.3:p.Arg2862Ter
NM_004006.3:c.8608C>T MANE Select	NP_003997.2:p.Arg2870Ter
NM_004011.4:c.4585C>T	NP_004002.3:p.Arg1529Ter
NM_004012.4:c.4576C>T	NP_004003.2:p.Arg1526Ter
NM_004021.3:c.1228C>T	NP_004012.2:p.Arg410Ter
NM_004023.3:c.1228C>T	NP_004014.2:p.Arg410Ter
NM_004013.3:c.1228C>T	NP_004004.2:p.Arg410Ter
NM_004014.3:c.421C>T	NP_004005.2:p.Arg141Ter
NM_004020.4:c.1228C>T	NP_004011.3:p.Arg410Ter
NM_004022.3:c.1228C>T	NP_004013.2:p.Arg410Ter