Canonical Allele Identifier: CA412658772

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31792120A>T (hg19) ; chrX:g.31774003A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774003A>T , CM000685.2:g.31774003A>T	GRCh38
NC_000023.10:g.31792120A>T , CM000685.1:g.31792120A>T	GRCh37
NC_000023.9:g.31702041A>T	NCBI36
NG_012232.1:g.1570607T>A , LRG_199:g.1570607T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2345T>A	ENSP00000350765.3:p.Val782Glu
ENST00000682238.1:c.119T>A	ENSP00000508124.1:p.Val40Glu
ENST00000683117.1:n.1160T>A
ENST00000683450.1:n.1082T>A
ENST00000683851.1:n.1160T>A
ENST00000683957.1:n.991T>A
ENST00000684130.1:c.119T>A	ENSP00000508037.1:p.Val40Glu
ENST00000357033.9:c.7499T>A MANE Select	ENSP00000354923.3:p.Val2500Glu
ENST00000619831.5:c.3467T>A	ENSP00000479270.2:p.Val1156Glu
ENST00000620040.5:c.119T>A	ENSP00000478150.2:p.Val40Glu
ENST00000680961.1:c.119T>A	ENSP00000506386.1:p.Val40Glu
ENST00000681646.1:n.1160T>A
ENST00000681839.1:c.488T>A	ENSP00000505228.1:p.Val163Glu
ENST00000357033.8:c.7499T>A	ENSP00000354923.3:p.Val2500Glu
ENST00000358062.6:c.587T>A	ENSP00000350765.2:p.Val196Glu
ENST00000359836.5:c.119T>A	ENSP00000352894.1:p.Val40Glu
ENST00000378677.6:c.7487T>A	ENSP00000367948.2:p.Val2496Glu
ENST00000378707.7:c.119T>A	ENSP00000367979.3:p.Val40Glu
ENST00000471779.1:c.256T>A	ENSP00000417075.1:n.256T>A
ENST00000474231.5:c.119T>A	ENSP00000417123.1:p.Val40Glu
ENST00000541735.5:c.119T>A	ENSP00000444119.1:p.Val40Glu
ENST00000619831.4:c.7484T>A	ENSP00000479270.1:p.Val2495Glu
ENST00000620040.4:c.7496T>A	ENSP00000478150.1:p.Val2499Glu
NM_000109.3:c.7475T>A	NP_000100.2:p.Val2492Glu
NM_004006.2:c.7499T>A , LRG_199t1:c.7499T>A	NP_003997.1:p.Val2500Glu
NM_004009.3:c.7487T>A	NP_004000.1:p.Val2496Glu
NM_004010.3:c.7130T>A	NP_004001.1:p.Val2377Glu
NM_004011.3:c.3476T>A	NP_004002.2:p.Val1159Glu
NM_004012.3:c.3467T>A	NP_004003.1:p.Val1156Glu
NM_004013.2:c.119T>A	NP_004004.1:p.Val40Glu
NM_004020.3:c.119T>A	NP_004011.2:p.Val40Glu
NM_004021.2:c.119T>A	NP_004012.1:p.Val40Glu
NM_004022.2:c.119T>A	NP_004013.1:p.Val40Glu
NM_004023.2:c.119T>A	NP_004014.1:p.Val40Glu
XM_006724468.2:c.7499T>A	XP_006724531.1:p.Val2500Glu
XM_006724469.2:c.7475T>A	XP_006724532.1:p.Val2492Glu
XM_006724470.2:c.7499T>A	XP_006724533.1:p.Val2500Glu
XM_006724471.2:c.7499T>A	XP_006724534.1:p.Val2500Glu
XM_006724472.2:c.7370T>A	XP_006724535.1:p.Val2457Glu
XM_006724473.2:c.7361T>A	XP_006724536.1:p.Val2454Glu
XM_006724474.2:c.7499T>A	XP_006724537.1:p.Val2500Glu
XM_006724475.2:c.7499T>A	XP_006724538.1:p.Val2500Glu
XM_011545467.1:c.7376T>A	XP_011543769.1:p.Val2459Glu
XM_011545468.1:c.7499T>A	XP_011543770.1:p.Val2500Glu
XM_006724469.3:c.7475T>A	XP_006724532.1:p.Val2492Glu
XM_006724470.3:c.7499T>A	XP_006724533.1:p.Val2500Glu
XM_006724474.3:c.7499T>A	XP_006724537.1:p.Val2500Glu
XM_011545468.2:c.7499T>A	XP_011543770.1:p.Val2500Glu
XM_017029328.1:c.7499T>A	XP_016884817.1:p.Val2500Glu
XM_017029331.1:c.1673T>A	XP_016884820.1:p.Val558Glu
NM_000109.4:c.7475T>A	NP_000100.3:p.Val2492Glu
NM_004006.3:c.7499T>A MANE Select	NP_003997.2:p.Val2500Glu
NM_004011.4:c.3476T>A	NP_004002.3:p.Val1159Glu
NM_004012.4:c.3467T>A	NP_004003.2:p.Val1156Glu
NM_004021.3:c.119T>A	NP_004012.2:p.Val40Glu
NM_004023.3:c.119T>A	NP_004014.2:p.Val40Glu
NM_004013.3:c.119T>A	NP_004004.2:p.Val40Glu
NM_004020.4:c.119T>A	NP_004011.3:p.Val40Glu
NM_004022.3:c.119T>A	NP_004013.2:p.Val40Glu