Canonical Allele Identifier: CA412655275

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31462713T>A (hg19) ; chrX:g.31444596T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444596T>A , CM000685.2:g.31444596T>A	GRCh38
NC_000023.10:g.31462713T>A , CM000685.1:g.31462713T>A	GRCh37
NC_000023.9:g.31372634T>A	NCBI36
NG_012232.1:g.1900014A>T , LRG_199:g.1900014A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3815A>T	ENSP00000350765.3:p.Glu1272Val
ENST00000682238.1:c.1589A>T	ENSP00000508124.1:p.Glu530Val
ENST00000683450.1:n.2434A>T
ENST00000683957.1:n.2461A>T
ENST00000684130.1:c.1589A>T	ENSP00000508037.1:p.Glu530Val
ENST00000343523.7:c.824A>T	ENSP00000340057.4:p.Glu275Val
ENST00000357033.9:c.8969A>T MANE Select	ENSP00000354923.3:p.Glu2990Val
ENST00000619831.5:c.4937A>T	ENSP00000479270.2:p.Glu1646Val
ENST00000620040.5:c.1589A>T	ENSP00000478150.2:p.Glu530Val
ENST00000680961.1:c.1589A>T	ENSP00000506386.1:p.Glu530Val
ENST00000681646.1:n.2630A>T
ENST00000343523.6:c.782A>T	ENSP00000340057.3:p.Glu261Val
ENST00000357033.8:c.8969A>T	ENSP00000354923.3:p.Glu2990Val
ENST00000358062.6:c.2057A>T	ENSP00000350765.2:p.Glu686Val
ENST00000359836.5:c.1589A>T	ENSP00000352894.1:p.Glu530Val
ENST00000378677.6:c.8957A>T	ENSP00000367948.2:p.Glu2986Val
ENST00000378707.7:c.1589A>T	ENSP00000367979.3:p.Glu530Val
ENST00000474231.5:c.1589A>T	ENSP00000417123.1:p.Glu530Val
ENST00000541735.5:c.1589A>T	ENSP00000444119.1:p.Glu530Val
ENST00000619831.4:c.8954A>T	ENSP00000479270.1:p.Glu2985Val
ENST00000620040.4:c.8966A>T	ENSP00000478150.1:p.Glu2989Val
NM_000109.3:c.8945A>T	NP_000100.2:p.Glu2982Val
NM_004006.2:c.8969A>T , LRG_199t1:c.8969A>T	NP_003997.1:p.Glu2990Val
NM_004009.3:c.8957A>T	NP_004000.1:p.Glu2986Val
NM_004010.3:c.8600A>T	NP_004001.1:p.Glu2867Val
NM_004011.3:c.4946A>T	NP_004002.2:p.Glu1649Val
NM_004012.3:c.4937A>T	NP_004003.1:p.Glu1646Val
NM_004013.2:c.1589A>T	NP_004004.1:p.Glu530Val
NM_004014.2:c.782A>T	NP_004005.1:p.Glu261Val
NM_004020.3:c.1589A>T	NP_004011.2:p.Glu530Val
NM_004021.2:c.1589A>T	NP_004012.1:p.Glu530Val
NM_004022.2:c.1589A>T	NP_004013.1:p.Glu530Val
NM_004023.2:c.1589A>T	NP_004014.1:p.Glu530Val
XM_006724468.2:c.8969A>T	XP_006724531.1:p.Glu2990Val
XM_006724469.2:c.8945A>T	XP_006724532.1:p.Glu2982Val
XM_006724470.2:c.8969A>T	XP_006724533.1:p.Glu2990Val
XM_006724471.2:c.8969A>T	XP_006724534.1:p.Glu2990Val
XM_006724472.2:c.8840A>T	XP_006724535.1:p.Glu2947Val
XM_006724473.2:c.8831A>T	XP_006724536.1:p.Glu2944Val
XM_006724474.2:c.8969A>T	XP_006724537.1:p.Glu2990Val
XM_006724475.2:c.8969A>T	XP_006724538.1:p.Glu2990Val
XM_011545467.1:c.8846A>T	XP_011543769.1:p.Glu2949Val
XM_011545468.1:c.8969A>T	XP_011543770.1:p.Glu2990Val
XM_006724469.3:c.8945A>T	XP_006724532.1:p.Glu2982Val
XM_006724470.3:c.8969A>T	XP_006724533.1:p.Glu2990Val
XM_006724474.3:c.8969A>T	XP_006724537.1:p.Glu2990Val
XM_011545468.2:c.8969A>T	XP_011543770.1:p.Glu2990Val
XM_017029328.1:c.8969A>T	XP_016884817.1:p.Glu2990Val
XM_017029331.1:c.3143A>T	XP_016884820.1:p.Glu1048Val
NM_000109.4:c.8945A>T	NP_000100.3:p.Glu2982Val
NM_004006.3:c.8969A>T MANE Select	NP_003997.2:p.Glu2990Val
NM_004011.4:c.4946A>T	NP_004002.3:p.Glu1649Val
NM_004012.4:c.4937A>T	NP_004003.2:p.Glu1646Val
NM_004021.3:c.1589A>T	NP_004012.2:p.Glu530Val
NM_004023.3:c.1589A>T	NP_004014.2:p.Glu530Val
NM_004013.3:c.1589A>T	NP_004004.2:p.Glu530Val
NM_004014.3:c.782A>T	NP_004005.2:p.Glu261Val
NM_004020.4:c.1589A>T	NP_004011.3:p.Glu530Val
NM_004022.3:c.1589A>T	NP_004013.2:p.Glu530Val