Canonical Allele Identifier: CA412665694

Gene: DMD

Linked Data

• COSMIC: COSM5656962 ; COSM5656963 ; COSM5656964 ; COSM5656965
• MyVariant Identifiers: chrX:g.32305673A>T (hg19) ; chrX:g.32287556A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287556A>T , CM000685.2:g.32287556A>T	GRCh38
NC_000023.10:g.32305673A>T , CM000685.1:g.32305673A>T	GRCh37
NC_000023.9:g.32215594A>T	NCBI36
NG_012232.1:g.1057054T>A , LRG_199:g.1057054T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1109T>A	ENSP00000350765.3:p.Val370Asp
ENST00000357033.9:c.6263T>A MANE Select	ENSP00000354923.3:p.Val2088Asp
ENST00000619831.5:c.2231T>A	ENSP00000479270.2:p.Val744Asp
ENST00000357033.8:c.6263T>A	ENSP00000354923.3:p.Val2088Asp
ENST00000378677.6:c.6251T>A	ENSP00000367948.2:p.Val2084Asp
ENST00000488902.5:n.336-70493T>A
ENST00000619831.4:c.6251T>A	ENSP00000479270.1:p.Val2084Asp
ENST00000620040.4:c.6263T>A	ENSP00000478150.1:p.Val2088Asp
NM_000109.3:c.6239T>A	NP_000100.2:p.Val2080Asp
NM_004006.2:c.6263T>A , LRG_199t1:c.6263T>A	NP_003997.1:p.Val2088Asp
NM_004009.3:c.6251T>A	NP_004000.1:p.Val2084Asp
NM_004010.3:c.5894T>A	NP_004001.1:p.Val1965Asp
NM_004011.3:c.2240T>A	NP_004002.2:p.Val747Asp
NM_004012.3:c.2231T>A	NP_004003.1:p.Val744Asp
XM_006724468.2:c.6263T>A	XP_006724531.1:p.Val2088Asp
XM_006724469.2:c.6239T>A	XP_006724532.1:p.Val2080Asp
XM_006724470.2:c.6263T>A	XP_006724533.1:p.Val2088Asp
XM_006724471.2:c.6263T>A	XP_006724534.1:p.Val2088Asp
XM_006724472.2:c.6134T>A	XP_006724535.1:p.Val2045Asp
XM_006724473.2:c.6125T>A	XP_006724536.1:p.Val2042Asp
XM_006724474.2:c.6263T>A	XP_006724537.1:p.Val2088Asp
XM_006724475.2:c.6263T>A	XP_006724538.1:p.Val2088Asp
XM_011545467.1:c.6140T>A	XP_011543769.1:p.Val2047Asp
XM_011545468.1:c.6263T>A	XP_011543770.1:p.Val2088Asp
XM_006724469.3:c.6239T>A	XP_006724532.1:p.Val2080Asp
XM_006724470.3:c.6263T>A	XP_006724533.1:p.Val2088Asp
XM_006724474.3:c.6263T>A	XP_006724537.1:p.Val2088Asp
XM_011545468.2:c.6263T>A	XP_011543770.1:p.Val2088Asp
XM_017029328.1:c.6263T>A	XP_016884817.1:p.Val2088Asp
XM_017029329.1:c.6263T>A	XP_016884818.1:p.Val2088Asp
XM_017029330.2:c.6263T>A	XP_016884819.1:p.Val2088Asp
XM_017029331.1:c.437T>A	XP_016884820.1:p.Val146Asp
NM_000109.4:c.6239T>A	NP_000100.3:p.Val2080Asp
NM_004006.3:c.6263T>A MANE Select	NP_003997.2:p.Val2088Asp
NM_004011.4:c.2240T>A	NP_004002.3:p.Val747Asp
NM_004012.4:c.2231T>A	NP_004003.2:p.Val744Asp