Canonical Allele Identifier: CA347478

Gene: DMD

Linked Data

• ClinVar Variation Id: 217214
• ClinVar RCV Id: RCV000201027 ; RCV001781603 ; RCV001828037
• dbSNP Id: rs863225012
• MyVariant Identifiers: chrX:g.31525431C>T (hg19) ; chrX:g.31507314C>T (hg38)
• PubMed: PMID:10464635

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31507314C>T , CM000685.2:g.31507314C>T	GRCh38
NC_000023.10:g.31525431C>T , CM000685.1:g.31525431C>T	GRCh37
NC_000023.9:g.31435352C>T	NCBI36
NG_012232.1:g.1837296G>A , LRG_199:g.1837296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3203G>A	ENSP00000350765.3:p.Trp1068Ter
ENST00000682238.1:c.977G>A	ENSP00000508124.1:p.Trp326Ter
ENST00000683450.1:n.1822G>A
ENST00000683957.1:n.1849G>A
ENST00000684130.1:c.977G>A	ENSP00000508037.1:p.Trp326Ter
ENST00000343523.7:c.212G>A	ENSP00000340057.4:p.Trp71Ter
ENST00000357033.9:c.8357G>A MANE Select	ENSP00000354923.3:p.Trp2786Ter
ENST00000619831.5:c.4325G>A	ENSP00000479270.2:p.Trp1442Ter
ENST00000620040.5:c.977G>A	ENSP00000478150.2:p.Trp326Ter
ENST00000680961.1:c.977G>A	ENSP00000506386.1:p.Trp326Ter
ENST00000681646.1:n.2018G>A
ENST00000343523.6:c.170G>A	ENSP00000340057.3:p.Trp57Ter
ENST00000357033.8:c.8357G>A	ENSP00000354923.3:p.Trp2786Ter
ENST00000358062.6:c.1445G>A	ENSP00000350765.2:p.Trp482Ter
ENST00000359836.5:c.977G>A	ENSP00000352894.1:p.Trp326Ter
ENST00000378677.6:c.8345G>A	ENSP00000367948.2:p.Trp2782Ter
ENST00000378707.7:c.977G>A	ENSP00000367979.3:p.Trp326Ter
ENST00000445312.1:n.414G>A
ENST00000474231.5:c.977G>A	ENSP00000417123.1:p.Trp326Ter
ENST00000541735.5:c.977G>A	ENSP00000444119.1:p.Trp326Ter
ENST00000619831.4:c.8342G>A	ENSP00000479270.1:p.Trp2781Ter
ENST00000620040.4:c.8354G>A	ENSP00000478150.1:p.Trp2785Ter
NM_000109.3:c.8333G>A	NP_000100.2:p.Trp2778Ter
NM_004006.2:c.8357G>A , LRG_199t1:c.8357G>A	NP_003997.1:p.Trp2786Ter
NM_004009.3:c.8345G>A	NP_004000.1:p.Trp2782Ter
NM_004010.3:c.7988G>A	NP_004001.1:p.Trp2663Ter
NM_004011.3:c.4334G>A	NP_004002.2:p.Trp1445Ter
NM_004012.3:c.4325G>A	NP_004003.1:p.Trp1442Ter
NM_004013.2:c.977G>A	NP_004004.1:p.Trp326Ter
NM_004014.2:c.170G>A	NP_004005.1:p.Trp57Ter
NM_004020.3:c.977G>A	NP_004011.2:p.Trp326Ter
NM_004021.2:c.977G>A	NP_004012.1:p.Trp326Ter
NM_004022.2:c.977G>A	NP_004013.1:p.Trp326Ter
NM_004023.2:c.977G>A	NP_004014.1:p.Trp326Ter
XM_006724468.2:c.8357G>A	XP_006724531.1:p.Trp2786Ter
XM_006724469.2:c.8333G>A	XP_006724532.1:p.Trp2778Ter
XM_006724470.2:c.8357G>A	XP_006724533.1:p.Trp2786Ter
XM_006724471.2:c.8357G>A	XP_006724534.1:p.Trp2786Ter
XM_006724472.2:c.8228G>A	XP_006724535.1:p.Trp2743Ter
XM_006724473.2:c.8219G>A	XP_006724536.1:p.Trp2740Ter
XM_006724474.2:c.8357G>A	XP_006724537.1:p.Trp2786Ter
XM_006724475.2:c.8357G>A	XP_006724538.1:p.Trp2786Ter
XM_011545467.1:c.8234G>A	XP_011543769.1:p.Trp2745Ter
XM_011545468.1:c.8357G>A	XP_011543770.1:p.Trp2786Ter
XM_006724469.3:c.8333G>A	XP_006724532.1:p.Trp2778Ter
XM_006724470.3:c.8357G>A	XP_006724533.1:p.Trp2786Ter
XM_006724474.3:c.8357G>A	XP_006724537.1:p.Trp2786Ter
XM_011545468.2:c.8357G>A	XP_011543770.1:p.Trp2786Ter
XM_017029328.1:c.8357G>A	XP_016884817.1:p.Trp2786Ter
XM_017029331.1:c.2531G>A	XP_016884820.1:p.Trp844Ter
NM_000109.4:c.8333G>A	NP_000100.3:p.Trp2778Ter
NM_004006.3:c.8357G>A MANE Select	NP_003997.2:p.Trp2786Ter
NM_004011.4:c.4334G>A	NP_004002.3:p.Trp1445Ter
NM_004012.4:c.4325G>A	NP_004003.2:p.Trp1442Ter
NM_004021.3:c.977G>A	NP_004012.2:p.Trp326Ter
NM_004023.3:c.977G>A	NP_004014.2:p.Trp326Ter
NM_004013.3:c.977G>A	NP_004004.2:p.Trp326Ter
NM_004014.3:c.170G>A	NP_004005.2:p.Trp57Ter
NM_004020.4:c.977G>A	NP_004011.3:p.Trp326Ter
NM_004022.3:c.977G>A	NP_004013.2:p.Trp326Ter