Canonical Allele Identifier: CA10378185

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31658108C>T , CM000685.2:g.31658108C>T	GRCh38
NC_000023.10:g.31676225C>T , CM000685.1:g.31676225C>T	GRCh37
NC_000023.9:g.31586146C>T	NCBI36
NG_012232.1:g.1686502G>A , LRG_199:g.1686502G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.7909G>A MANE Select	NP_003997.2:p.Val2637Ile
ENST00000357033.9:c.7909G>A MANE Select	ENSP00000354923.3:p.Val2637Ile
NM_000109.3:c.7885G>A	NP_000100.2:p.Val2629Ile
NM_000109.4:c.7885G>A	NP_000100.3:p.Val2629Ile
NM_004006.2:c.7909G>A , LRG_199t1:c.7909G>A	NP_003997.1:p.Val2637Ile
NM_004009.3:c.7897G>A	NP_004000.1:p.Val2633Ile
NM_004010.3:c.7540G>A	NP_004001.1:p.Val2514Ile
NM_004011.3:c.3886G>A	NP_004002.2:p.Val1296Ile
NM_004011.4:c.3886G>A	NP_004002.3:p.Val1296Ile
NM_004012.3:c.3877G>A	NP_004003.1:p.Val1293Ile
NM_004012.4:c.3877G>A	NP_004003.2:p.Val1293Ile
NM_004013.2:c.529G>A	NP_004004.1:p.Val177Ile
NM_004013.3:c.529G>A	NP_004004.2:p.Val177Ile
NM_004020.3:c.529G>A	NP_004011.2:p.Val177Ile
NM_004020.4:c.529G>A	NP_004011.3:p.Val177Ile
NM_004021.2:c.529G>A	NP_004012.1:p.Val177Ile
NM_004021.3:c.529G>A	NP_004012.2:p.Val177Ile
NM_004022.2:c.529G>A	NP_004013.1:p.Val177Ile
NM_004022.3:c.529G>A	NP_004013.2:p.Val177Ile
NM_004023.2:c.529G>A	NP_004014.1:p.Val177Ile
NM_004023.3:c.529G>A	NP_004014.2:p.Val177Ile
ENST00000357033.8:c.7909G>A	ENSP00000354923.3:p.Val2637Ile
ENST00000358062.6:c.997G>A	ENSP00000350765.2:p.Val333Ile
ENST00000358062.7:c.2755G>A	ENSP00000350765.3:p.Val919Ile
ENST00000359836.5:c.529G>A	ENSP00000352894.1:p.Val177Ile
ENST00000378677.6:c.7897G>A	ENSP00000367948.2:p.Val2633Ile
ENST00000378707.7:c.529G>A	ENSP00000367979.3:p.Val177Ile
ENST00000474231.5:c.529G>A	ENSP00000417123.1:p.Val177Ile
ENST00000541735.5:c.529G>A	ENSP00000444119.1:p.Val177Ile
ENST00000619831.4:c.7894G>A	ENSP00000479270.1:p.Val2632Ile
ENST00000619831.5:c.3877G>A	ENSP00000479270.2:p.Val1293Ile
ENST00000620040.4:c.7906G>A	ENSP00000478150.1:p.Val2636Ile
ENST00000620040.5:c.529G>A	ENSP00000478150.2:p.Val177Ile
ENST00000680961.1:c.529G>A	ENSP00000506386.1:p.Val177Ile
ENST00000681646.1:n.1570G>A
ENST00000682238.1:c.529G>A	ENSP00000508124.1:p.Val177Ile
ENST00000683450.1:n.1374G>A
ENST00000683851.1:n.1570G>A
ENST00000683957.1:n.1401G>A
ENST00000684130.1:c.529G>A	ENSP00000508037.1:p.Val177Ile
XM_006724468.2:c.7909G>A	XP_006724531.1:p.Val2637Ile
XM_006724469.2:c.7885G>A	XP_006724532.1:p.Val2629Ile
XM_006724469.3:c.7885G>A	XP_006724532.1:p.Val2629Ile
XM_006724470.2:c.7909G>A	XP_006724533.1:p.Val2637Ile
XM_006724470.3:c.7909G>A	XP_006724533.1:p.Val2637Ile
XM_006724471.2:c.7909G>A	XP_006724534.1:p.Val2637Ile
XM_006724472.2:c.7780G>A	XP_006724535.1:p.Val2594Ile
XM_006724473.2:c.7771G>A	XP_006724536.1:p.Val2591Ile
XM_006724474.2:c.7909G>A	XP_006724537.1:p.Val2637Ile
XM_006724474.3:c.7909G>A	XP_006724537.1:p.Val2637Ile
XM_006724475.2:c.7909G>A	XP_006724538.1:p.Val2637Ile
XM_011545467.1:c.7786G>A	XP_011543769.1:p.Val2596Ile
XM_011545468.1:c.7909G>A	XP_011543770.1:p.Val2637Ile
XM_011545468.2:c.7909G>A	XP_011543770.1:p.Val2637Ile
XM_017029328.1:c.7909G>A	XP_016884817.1:p.Val2637Ile
XM_017029331.1:c.2083G>A	XP_016884820.1:p.Val695Ile