Canonical Allele Identifier: CA16616505

Gene: DMD

Linked Data

• ClinVar Variation Id: 409911
• ClinVar RCV Id: RCV000474172 ; RCV000757161 ; RCV001193188 ; RCV001833585
• dbSNP Id: rs1060502639
• COSMIC: COSM1120657 ; COSM1120659
• MyVariant Identifiers: chrX:g.32503174G>A (hg19) ; chrX:g.32485057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32485057G>A , CM000685.2:g.32485057G>A	GRCh38
NC_000023.10:g.32503174G>A , CM000685.1:g.32503174G>A	GRCh37
NC_000023.9:g.32413095G>A	NCBI36
NG_012232.1:g.859553C>T , LRG_199:g.859553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.2872C>T
ENST00000683985.1:n.2872C>T
ENST00000357033.9:c.2665C>T MANE Select	ENSP00000354923.3:p.Arg889Ter
ENST00000357033.8:c.2665C>T	ENSP00000354923.3:p.Arg889Ter
ENST00000378677.6:c.2653C>T	ENSP00000367948.2:p.Arg885Ter
ENST00000420596.5:c.94-119858C>T	ENSP00000399897.1:n.94-119858C>T
ENST00000448370.5:c.94-120347C>T	ENSP00000388559.1:n.94-120347C>T
ENST00000488902.5:n.336-267994C>T
ENST00000619831.4:c.2653C>T	ENSP00000479270.1:p.Arg885Ter
ENST00000620040.4:c.2665C>T	ENSP00000478150.1:p.Arg889Ter
NM_000109.3:c.2641C>T	NP_000100.2:p.Arg881Ter
NM_004006.2:c.2665C>T , LRG_199t1:c.2665C>T	NP_003997.1:p.Arg889Ter
NM_004009.3:c.2653C>T	NP_004000.1:p.Arg885Ter
NM_004010.3:c.2296C>T	NP_004001.1:p.Arg766Ter
XM_006724468.2:c.2665C>T	XP_006724531.1:p.Arg889Ter
XM_006724469.2:c.2641C>T	XP_006724532.1:p.Arg881Ter
XM_006724470.2:c.2665C>T	XP_006724533.1:p.Arg889Ter
XM_006724471.2:c.2665C>T	XP_006724534.1:p.Arg889Ter
XM_006724472.2:c.2536C>T	XP_006724535.1:p.Arg846Ter
XM_006724473.2:c.2665C>T	XP_006724536.1:p.Arg889Ter
XM_006724474.2:c.2665C>T	XP_006724537.1:p.Arg889Ter
XM_006724475.2:c.2665C>T	XP_006724538.1:p.Arg889Ter
XM_011545467.1:c.2665C>T	XP_011543769.1:p.Arg889Ter
XM_011545468.1:c.2665C>T	XP_011543770.1:p.Arg889Ter
XM_011545469.1:c.2665C>T	XP_011543771.1:p.Arg889Ter
XM_006724469.3:c.2641C>T	XP_006724532.1:p.Arg881Ter
XM_006724470.3:c.2665C>T	XP_006724533.1:p.Arg889Ter
XM_006724474.3:c.2665C>T	XP_006724537.1:p.Arg889Ter
XM_011545468.2:c.2665C>T	XP_011543770.1:p.Arg889Ter
XM_017029328.1:c.2665C>T	XP_016884817.1:p.Arg889Ter
XM_017029329.1:c.2665C>T	XP_016884818.1:p.Arg889Ter
XM_017029330.2:c.2665C>T	XP_016884819.1:p.Arg889Ter
NM_000109.4:c.2641C>T	NP_000100.3:p.Arg881Ter
NM_004006.3:c.2665C>T MANE Select	NP_003997.2:p.Arg889Ter