Canonical Allele Identifier: CA273088

Gene: DMD

Linked Data

• ClinVar Variation Id: 11260
• ClinVar RCV Id: RCV000012011 ; RCV001781242
• dbSNP Id: rs128626250
• gnomAD v4: X-32217062-G-A
• COSMIC: COSM185562 ; COSM4774015 ; COSM4774016 ; COSM4774017
• MyVariant Identifiers: chrX:g.32235179G>A (hg19) ; chrX:g.32217062G>A (hg38)
• PubMed: PMID:7668256 ; PMID:7951253 ; PMID:9298822 ; PMID:17041906 ; PMID:17952667 ; PMID:19783145 ; PMID:19937601 ; PMID:22092019 ; PMID:23536893

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32217062G>A , CM000685.2:g.32217062G>A	GRCh38
NC_000023.10:g.32235179G>A , CM000685.1:g.32235179G>A	GRCh37
NC_000023.9:g.32145100G>A	NCBI36
NG_012232.1:g.1127548C>T , LRG_199:g.1127548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1138C>T	ENSP00000350765.3:p.Arg380Ter
ENST00000357033.9:c.6292C>T MANE Select	ENSP00000354923.3:p.Arg2098Ter
ENST00000619831.5:c.2260C>T	ENSP00000479270.2:p.Arg754Ter
ENST00000357033.8:c.6292C>T	ENSP00000354923.3:p.Arg2098Ter
ENST00000378677.6:c.6280C>T	ENSP00000367948.2:p.Arg2094Ter
ENST00000488902.5:n.337C>T
ENST00000619831.4:c.6280C>T	ENSP00000479270.1:p.Arg2094Ter
ENST00000620040.4:c.6292C>T	ENSP00000478150.1:p.Arg2098Ter
NM_000109.3:c.6268C>T	NP_000100.2:p.Arg2090Ter
NM_004006.2:c.6292C>T , LRG_199t1:c.6292C>T	NP_003997.1:p.Arg2098Ter
NM_004009.3:c.6280C>T	NP_004000.1:p.Arg2094Ter
NM_004010.3:c.5923C>T	NP_004001.1:p.Arg1975Ter
NM_004011.3:c.2269C>T	NP_004002.2:p.Arg757Ter
NM_004012.3:c.2260C>T	NP_004003.1:p.Arg754Ter
XM_006724468.2:c.6292C>T	XP_006724531.1:p.Arg2098Ter
XM_006724469.2:c.6268C>T	XP_006724532.1:p.Arg2090Ter
XM_006724470.2:c.6292C>T	XP_006724533.1:p.Arg2098Ter
XM_006724471.2:c.6292C>T	XP_006724534.1:p.Arg2098Ter
XM_006724472.2:c.6163C>T	XP_006724535.1:p.Arg2055Ter
XM_006724473.2:c.6154C>T	XP_006724536.1:p.Arg2052Ter
XM_006724474.2:c.6292C>T	XP_006724537.1:p.Arg2098Ter
XM_006724475.2:c.6292C>T	XP_006724538.1:p.Arg2098Ter
XM_011545467.1:c.6169C>T	XP_011543769.1:p.Arg2057Ter
XM_011545468.1:c.6292C>T	XP_011543770.1:p.Arg2098Ter
XM_006724469.3:c.6268C>T	XP_006724532.1:p.Arg2090Ter
XM_006724470.3:c.6292C>T	XP_006724533.1:p.Arg2098Ter
XM_006724474.3:c.6292C>T	XP_006724537.1:p.Arg2098Ter
XM_011545468.2:c.6292C>T	XP_011543770.1:p.Arg2098Ter
XM_017029328.1:c.6292C>T	XP_016884817.1:p.Arg2098Ter
XM_017029329.1:c.6292C>T	XP_016884818.1:p.Arg2098Ter
XM_017029330.2:c.6292C>T	XP_016884819.1:p.Arg2098Ter
XM_017029331.1:c.466C>T	XP_016884820.1:p.Arg156Ter
NM_000109.4:c.6268C>T	NP_000100.3:p.Arg2090Ter
NM_004006.3:c.6292C>T MANE Select	NP_003997.2:p.Arg2098Ter
NM_004011.4:c.2269C>T	NP_004002.3:p.Arg757Ter
NM_004012.4:c.2260C>T	NP_004003.2:p.Arg754Ter