Canonical Allele Identifier: CA412659151

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31792283T>G (hg19) ; chrX:g.31774166T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774166T>G , CM000685.2:g.31774166T>G	GRCh38
NC_000023.10:g.31792283T>G , CM000685.1:g.31792283T>G	GRCh37
NC_000023.9:g.31702204T>G	NCBI36
NG_012232.1:g.1570444A>C , LRG_199:g.1570444A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2182A>C	ENSP00000350765.3:p.Thr728Pro
ENST00000682238.1:c.-45A>C	ENSP00000508124.1:n.-45A>C
ENST00000683117.1:n.997A>C
ENST00000683450.1:n.919A>C
ENST00000683851.1:n.997A>C
ENST00000683957.1:n.828A>C
ENST00000684130.1:c.-45A>C	ENSP00000508037.1:n.-45A>C
ENST00000357033.9:c.7336A>C MANE Select	ENSP00000354923.3:p.Thr2446Pro
ENST00000619831.5:c.3304A>C	ENSP00000479270.2:p.Thr1102Pro
ENST00000620040.5:c.-45A>C	ENSP00000478150.2:n.-45A>C
ENST00000680961.1:c.-45A>C	ENSP00000506386.1:n.-45A>C
ENST00000681646.1:n.997A>C
ENST00000681839.1:c.325A>C	ENSP00000505228.1:p.Thr109Pro
ENST00000357033.8:c.7336A>C	ENSP00000354923.3:p.Thr2446Pro
ENST00000358062.6:c.424A>C	ENSP00000350765.2:p.Thr142Pro
ENST00000359836.5:c.-45A>C	ENSP00000352894.1:n.-45A>C
ENST00000378677.6:c.7324A>C	ENSP00000367948.2:p.Thr2442Pro
ENST00000378707.7:c.-45A>C	ENSP00000367979.3:n.-45A>C
ENST00000471779.1:c.93A>C	ENSP00000417075.1:p.Ter31Cys
ENST00000474231.5:c.-45A>C	ENSP00000417123.1:n.-45A>C
ENST00000541735.5:c.-45A>C	ENSP00000444119.1:n.-45A>C
ENST00000619831.4:c.7321A>C	ENSP00000479270.1:p.Thr2441Pro
ENST00000620040.4:c.7333A>C	ENSP00000478150.1:p.Thr2445Pro
NM_000109.3:c.7312A>C	NP_000100.2:p.Thr2438Pro
NM_004006.2:c.7336A>C , LRG_199t1:c.7336A>C	NP_003997.1:p.Thr2446Pro
NM_004009.3:c.7324A>C	NP_004000.1:p.Thr2442Pro
NM_004010.3:c.6967A>C	NP_004001.1:p.Thr2323Pro
NM_004011.3:c.3313A>C	NP_004002.2:p.Thr1105Pro
NM_004012.3:c.3304A>C	NP_004003.1:p.Thr1102Pro
NM_004013.2:c.-45A>C	NP_004004.1:n.-45A>C
NM_004020.3:c.-45A>C	NP_004011.2:n.-45A>C
NM_004021.2:c.-45A>C	NP_004012.1:n.-45A>C
NM_004022.2:c.-45A>C	NP_004013.1:n.-45A>C
NM_004023.2:c.-45A>C	NP_004014.1:n.-45A>C
XM_006724468.2:c.7336A>C	XP_006724531.1:p.Thr2446Pro
XM_006724469.2:c.7312A>C	XP_006724532.1:p.Thr2438Pro
XM_006724470.2:c.7336A>C	XP_006724533.1:p.Thr2446Pro
XM_006724471.2:c.7336A>C	XP_006724534.1:p.Thr2446Pro
XM_006724472.2:c.7207A>C	XP_006724535.1:p.Thr2403Pro
XM_006724473.2:c.7198A>C	XP_006724536.1:p.Thr2400Pro
XM_006724474.2:c.7336A>C	XP_006724537.1:p.Thr2446Pro
XM_006724475.2:c.7336A>C	XP_006724538.1:p.Thr2446Pro
XM_011545467.1:c.7213A>C	XP_011543769.1:p.Thr2405Pro
XM_011545468.1:c.7336A>C	XP_011543770.1:p.Thr2446Pro
XM_006724469.3:c.7312A>C	XP_006724532.1:p.Thr2438Pro
XM_006724470.3:c.7336A>C	XP_006724533.1:p.Thr2446Pro
XM_006724474.3:c.7336A>C	XP_006724537.1:p.Thr2446Pro
XM_011545468.2:c.7336A>C	XP_011543770.1:p.Thr2446Pro
XM_017029328.1:c.7336A>C	XP_016884817.1:p.Thr2446Pro
XM_017029331.1:c.1510A>C	XP_016884820.1:p.Thr504Pro
NM_000109.4:c.7312A>C	NP_000100.3:p.Thr2438Pro
NM_004006.3:c.7336A>C MANE Select	NP_003997.2:p.Thr2446Pro
NM_004011.4:c.3313A>C	NP_004002.3:p.Thr1105Pro
NM_004012.4:c.3304A>C	NP_004003.2:p.Thr1102Pro
NM_004021.3:c.-45A>C	NP_004012.2:n.-45A>C
NM_004023.3:c.-45A>C	NP_004014.2:n.-45A>C
NM_004013.3:c.-45A>C	NP_004004.2:n.-45A>C
NM_004020.4:c.-45A>C	NP_004011.3:n.-45A>C
NM_004022.3:c.-45A>C	NP_004013.2:n.-45A>C