Canonical Allele Identifier: CA16616498

Gene: DMD

Linked Data

• ClinVar Variation Id: 409920
• ClinVar RCV Id: RCV000458499 ; RCV002356685 ; RCV001833587
• dbSNP Id: rs760733415
• gnomAD v4: X-32441285-C-A
• COSMIC: COSM4820010 ; COSM4820011 ; COSM4820012
• MyVariant Identifiers: chrX:g.32459402C>A (hg19) ; chrX:g.32441285C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32441285C>A , CM000685.2:g.32441285C>A	GRCh38
NC_000023.10:g.32459402C>A , CM000685.1:g.32459402C>A	GRCh37
NC_000023.9:g.32369323C>A	NCBI36
NG_012232.1:g.903325G>T , LRG_199:g.903325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.3816G>T MANE Select	ENSP00000354923.3:p.Leu1272Phe
ENST00000357033.8:c.3816G>T	ENSP00000354923.3:p.Leu1272Phe
ENST00000378677.6:c.3804G>T	ENSP00000367948.2:p.Leu1268Phe
ENST00000420596.5:c.94-76086G>T	ENSP00000399897.1:n.94-76086G>T
ENST00000448370.5:c.94-76575G>T	ENSP00000388559.1:n.94-76575G>T
ENST00000488902.5:n.336-224222G>T
ENST00000619831.4:c.3804G>T	ENSP00000479270.1:p.Leu1268Phe
ENST00000620040.4:c.3816G>T	ENSP00000478150.1:p.Leu1272Phe
NM_000109.3:c.3792G>T	NP_000100.2:p.Leu1264Phe
NM_004006.2:c.3816G>T , LRG_199t1:c.3816G>T	NP_003997.1:p.Leu1272Phe
NM_004009.3:c.3804G>T	NP_004000.1:p.Leu1268Phe
NM_004010.3:c.3447G>T	NP_004001.1:p.Leu1149Phe
XM_006724468.2:c.3816G>T	XP_006724531.1:p.Leu1272Phe
XM_006724469.2:c.3792G>T	XP_006724532.1:p.Leu1264Phe
XM_006724470.2:c.3816G>T	XP_006724533.1:p.Leu1272Phe
XM_006724471.2:c.3816G>T	XP_006724534.1:p.Leu1272Phe
XM_006724472.2:c.3687G>T	XP_006724535.1:p.Leu1229Phe
XM_006724473.2:c.3816G>T	XP_006724536.1:p.Leu1272Phe
XM_006724474.2:c.3816G>T	XP_006724537.1:p.Leu1272Phe
XM_006724475.2:c.3816G>T	XP_006724538.1:p.Leu1272Phe
XM_011545467.1:c.3816G>T	XP_011543769.1:p.Leu1272Phe
XM_011545468.1:c.3816G>T	XP_011543770.1:p.Leu1272Phe
XM_011545469.1:c.3816G>T	XP_011543771.1:p.Leu1272Phe
XM_006724469.3:c.3792G>T	XP_006724532.1:p.Leu1264Phe
XM_006724470.3:c.3816G>T	XP_006724533.1:p.Leu1272Phe
XM_006724474.3:c.3816G>T	XP_006724537.1:p.Leu1272Phe
XM_011545468.2:c.3816G>T	XP_011543770.1:p.Leu1272Phe
XM_017029328.1:c.3816G>T	XP_016884817.1:p.Leu1272Phe
XM_017029329.1:c.3816G>T	XP_016884818.1:p.Leu1272Phe
XM_017029330.2:c.3816G>T	XP_016884819.1:p.Leu1272Phe
NM_000109.4:c.3792G>T	NP_000100.3:p.Leu1264Phe
NM_004006.3:c.3816G>T MANE Select	NP_003997.2:p.Leu1272Phe