Canonical Allele Identifier: CA10653907

Gene: DMD

Linked Data

• ClinVar Variation Id: 368249
• ClinVar RCV Id: RCV000370724
• dbSNP Id: rs1057515874
• gnomAD v2: X-32482810-T-C
• gnomAD v4: X-32464693-T-C
• MyVariant Identifiers: chrX:g.32482810T>C (hg19) ; chrX:g.32464693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32464693T>C , CM000685.2:g.32464693T>C	GRCh38
NC_000023.10:g.32482810T>C , CM000685.1:g.32482810T>C	GRCh37
NC_000023.9:g.32392731T>C	NCBI36
NG_012232.1:g.879917A>G , LRG_199:g.879917A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3376A>G
ENST00000357033.9:c.3169A>G MANE Select	ENSP00000354923.3:p.Ile1057Val
ENST00000357033.8:c.3169A>G	ENSP00000354923.3:p.Ile1057Val
ENST00000378677.6:c.3157A>G	ENSP00000367948.2:p.Ile1053Val
ENST00000420596.5:c.94-99494A>G	ENSP00000399897.1:n.94-99494A>G
ENST00000448370.5:c.94-99983A>G	ENSP00000388559.1:n.94-99983A>G
ENST00000488902.5:n.336-247630A>G
ENST00000619831.4:c.3157A>G	ENSP00000479270.1:p.Ile1053Val
ENST00000620040.4:c.3169A>G	ENSP00000478150.1:p.Ile1057Val
NM_000109.3:c.3145A>G	NP_000100.2:p.Ile1049Val
NM_004006.2:c.3169A>G , LRG_199t1:c.3169A>G	NP_003997.1:p.Ile1057Val
NM_004009.3:c.3157A>G	NP_004000.1:p.Ile1053Val
NM_004010.3:c.2800A>G	NP_004001.1:p.Ile934Val
XM_006724468.2:c.3169A>G	XP_006724531.1:p.Ile1057Val
XM_006724469.2:c.3145A>G	XP_006724532.1:p.Ile1049Val
XM_006724470.2:c.3169A>G	XP_006724533.1:p.Ile1057Val
XM_006724471.2:c.3169A>G	XP_006724534.1:p.Ile1057Val
XM_006724472.2:c.3040A>G	XP_006724535.1:p.Ile1014Val
XM_006724473.2:c.3169A>G	XP_006724536.1:p.Ile1057Val
XM_006724474.2:c.3169A>G	XP_006724537.1:p.Ile1057Val
XM_006724475.2:c.3169A>G	XP_006724538.1:p.Ile1057Val
XM_011545467.1:c.3169A>G	XP_011543769.1:p.Ile1057Val
XM_011545468.1:c.3169A>G	XP_011543770.1:p.Ile1057Val
XM_011545469.1:c.3169A>G	XP_011543771.1:p.Ile1057Val
XM_006724469.3:c.3145A>G	XP_006724532.1:p.Ile1049Val
XM_006724470.3:c.3169A>G	XP_006724533.1:p.Ile1057Val
XM_006724474.3:c.3169A>G	XP_006724537.1:p.Ile1057Val
XM_011545468.2:c.3169A>G	XP_011543770.1:p.Ile1057Val
XM_017029328.1:c.3169A>G	XP_016884817.1:p.Ile1057Val
XM_017029329.1:c.3169A>G	XP_016884818.1:p.Ile1057Val
XM_017029330.2:c.3169A>G	XP_016884819.1:p.Ile1057Val
NM_000109.4:c.3145A>G	NP_000100.3:p.Ile1049Val
NM_004006.3:c.3169A>G MANE Select	NP_003997.2:p.Ile1057Val