Canonical Allele Identifier: CA412659100

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31792260T>A (hg19) ; chrX:g.31774143T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774143T>A , CM000685.2:g.31774143T>A	GRCh38
NC_000023.10:g.31792260T>A , CM000685.1:g.31792260T>A	GRCh37
NC_000023.9:g.31702181T>A	NCBI36
NG_012232.1:g.1570467A>T , LRG_199:g.1570467A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2205A>T	ENSP00000350765.3:p.Glu735Asp
ENST00000682238.1:c.-22A>T	ENSP00000508124.1:n.-22A>T
ENST00000683117.1:n.1020A>T
ENST00000683450.1:n.942A>T
ENST00000683851.1:n.1020A>T
ENST00000683957.1:n.851A>T
ENST00000684130.1:c.-22A>T	ENSP00000508037.1:n.-22A>T
ENST00000357033.9:c.7359A>T MANE Select	ENSP00000354923.3:p.Glu2453Asp
ENST00000619831.5:c.3327A>T	ENSP00000479270.2:p.Glu1109Asp
ENST00000620040.5:c.-22A>T	ENSP00000478150.2:n.-22A>T
ENST00000680961.1:c.-22A>T	ENSP00000506386.1:n.-22A>T
ENST00000681646.1:n.1020A>T
ENST00000681839.1:c.348A>T	ENSP00000505228.1:p.Glu116Asp
ENST00000357033.8:c.7359A>T	ENSP00000354923.3:p.Glu2453Asp
ENST00000358062.6:c.447A>T	ENSP00000350765.2:p.Glu149Asp
ENST00000359836.5:c.-22A>T	ENSP00000352894.1:n.-22A>T
ENST00000378677.6:c.7347A>T	ENSP00000367948.2:p.Glu2449Asp
ENST00000378707.7:c.-22A>T	ENSP00000367979.3:n.-22A>T
ENST00000471779.1:c.116A>T	ENSP00000417075.1:n.116A>T
ENST00000474231.5:c.-22A>T	ENSP00000417123.1:n.-22A>T
ENST00000541735.5:c.-22A>T	ENSP00000444119.1:n.-22A>T
ENST00000619831.4:c.7344A>T	ENSP00000479270.1:p.Glu2448Asp
ENST00000620040.4:c.7356A>T	ENSP00000478150.1:p.Glu2452Asp
NM_000109.3:c.7335A>T	NP_000100.2:p.Glu2445Asp
NM_004006.2:c.7359A>T , LRG_199t1:c.7359A>T	NP_003997.1:p.Glu2453Asp
NM_004009.3:c.7347A>T	NP_004000.1:p.Glu2449Asp
NM_004010.3:c.6990A>T	NP_004001.1:p.Glu2330Asp
NM_004011.3:c.3336A>T	NP_004002.2:p.Glu1112Asp
NM_004012.3:c.3327A>T	NP_004003.1:p.Glu1109Asp
NM_004013.2:c.-22A>T	NP_004004.1:n.-22A>T
NM_004020.3:c.-22A>T	NP_004011.2:n.-22A>T
NM_004021.2:c.-22A>T	NP_004012.1:n.-22A>T
NM_004022.2:c.-22A>T	NP_004013.1:n.-22A>T
NM_004023.2:c.-22A>T	NP_004014.1:n.-22A>T
XM_006724468.2:c.7359A>T	XP_006724531.1:p.Glu2453Asp
XM_006724469.2:c.7335A>T	XP_006724532.1:p.Glu2445Asp
XM_006724470.2:c.7359A>T	XP_006724533.1:p.Glu2453Asp
XM_006724471.2:c.7359A>T	XP_006724534.1:p.Glu2453Asp
XM_006724472.2:c.7230A>T	XP_006724535.1:p.Glu2410Asp
XM_006724473.2:c.7221A>T	XP_006724536.1:p.Glu2407Asp
XM_006724474.2:c.7359A>T	XP_006724537.1:p.Glu2453Asp
XM_006724475.2:c.7359A>T	XP_006724538.1:p.Glu2453Asp
XM_011545467.1:c.7236A>T	XP_011543769.1:p.Glu2412Asp
XM_011545468.1:c.7359A>T	XP_011543770.1:p.Glu2453Asp
XM_006724469.3:c.7335A>T	XP_006724532.1:p.Glu2445Asp
XM_006724470.3:c.7359A>T	XP_006724533.1:p.Glu2453Asp
XM_006724474.3:c.7359A>T	XP_006724537.1:p.Glu2453Asp
XM_011545468.2:c.7359A>T	XP_011543770.1:p.Glu2453Asp
XM_017029328.1:c.7359A>T	XP_016884817.1:p.Glu2453Asp
XM_017029331.1:c.1533A>T	XP_016884820.1:p.Glu511Asp
NM_000109.4:c.7335A>T	NP_000100.3:p.Glu2445Asp
NM_004006.3:c.7359A>T MANE Select	NP_003997.2:p.Glu2453Asp
NM_004011.4:c.3336A>T	NP_004002.3:p.Glu1112Asp
NM_004012.4:c.3327A>T	NP_004003.2:p.Glu1109Asp
NM_004021.3:c.-22A>T	NP_004012.2:n.-22A>T
NM_004023.3:c.-22A>T	NP_004014.2:n.-22A>T
NM_004013.3:c.-22A>T	NP_004004.2:n.-22A>T
NM_004020.4:c.-22A>T	NP_004011.3:n.-22A>T
NM_004022.3:c.-22A>T	NP_004013.2:n.-22A>T