Canonical Allele Identifier: CA412664920

Gene: DMD

Linked Data

• ClinVar Variation Id: 1729081
• ClinVar RCV Id: RCV002445485 ; RCV003099310
• gnomAD v4: X-32464642-C-T
• COSMIC: COSM3844568 ; COSM3844569 ; COSM3844570
• MyVariant Identifiers: chrX:g.32482759C>T (hg19) ; chrX:g.32464642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32464642C>T , CM000685.2:g.32464642C>T	GRCh38
NC_000023.10:g.32482759C>T , CM000685.1:g.32482759C>T	GRCh37
NC_000023.9:g.32392680C>T	NCBI36
NG_012232.1:g.879968G>A , LRG_199:g.879968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3427G>A
ENST00000357033.9:c.3220G>A MANE Select	ENSP00000354923.3:p.Glu1074Lys
ENST00000357033.8:c.3220G>A	ENSP00000354923.3:p.Glu1074Lys
ENST00000378677.6:c.3208G>A	ENSP00000367948.2:p.Glu1070Lys
ENST00000420596.5:c.94-99443G>A	ENSP00000399897.1:n.94-99443G>A
ENST00000448370.5:c.94-99932G>A	ENSP00000388559.1:n.94-99932G>A
ENST00000488902.5:n.336-247579G>A
ENST00000619831.4:c.3208G>A	ENSP00000479270.1:p.Glu1070Lys
ENST00000620040.4:c.3220G>A	ENSP00000478150.1:p.Glu1074Lys
NM_000109.3:c.3196G>A	NP_000100.2:p.Glu1066Lys
NM_004006.2:c.3220G>A , LRG_199t1:c.3220G>A	NP_003997.1:p.Glu1074Lys
NM_004009.3:c.3208G>A	NP_004000.1:p.Glu1070Lys
NM_004010.3:c.2851G>A	NP_004001.1:p.Glu951Lys
XM_006724468.2:c.3220G>A	XP_006724531.1:p.Glu1074Lys
XM_006724469.2:c.3196G>A	XP_006724532.1:p.Glu1066Lys
XM_006724470.2:c.3220G>A	XP_006724533.1:p.Glu1074Lys
XM_006724471.2:c.3220G>A	XP_006724534.1:p.Glu1074Lys
XM_006724472.2:c.3091G>A	XP_006724535.1:p.Glu1031Lys
XM_006724473.2:c.3220G>A	XP_006724536.1:p.Glu1074Lys
XM_006724474.2:c.3220G>A	XP_006724537.1:p.Glu1074Lys
XM_006724475.2:c.3220G>A	XP_006724538.1:p.Glu1074Lys
XM_011545467.1:c.3220G>A	XP_011543769.1:p.Glu1074Lys
XM_011545468.1:c.3220G>A	XP_011543770.1:p.Glu1074Lys
XM_011545469.1:c.3220G>A	XP_011543771.1:p.Glu1074Lys
XM_006724469.3:c.3196G>A	XP_006724532.1:p.Glu1066Lys
XM_006724470.3:c.3220G>A	XP_006724533.1:p.Glu1074Lys
XM_006724474.3:c.3220G>A	XP_006724537.1:p.Glu1074Lys
XM_011545468.2:c.3220G>A	XP_011543770.1:p.Glu1074Lys
XM_017029328.1:c.3220G>A	XP_016884817.1:p.Glu1074Lys
XM_017029329.1:c.3220G>A	XP_016884818.1:p.Glu1074Lys
XM_017029330.2:c.3220G>A	XP_016884819.1:p.Glu1074Lys
NM_000109.4:c.3196G>A	NP_000100.3:p.Glu1066Lys
NM_004006.3:c.3220G>A MANE Select	NP_003997.2:p.Glu1074Lys