Canonical Allele Identifier: CA267143

Gene: DMD

Linked Data

• ClinVar Variation Id: 94778
• ClinVar RCV Id: RCV000080771 ; RCV001034930
• dbSNP Id: rs398124055
• MyVariant Identifiers: chrX:g.31697593C>A (hg19) ; chrX:g.31679476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31679476C>A , CM000685.2:g.31679476C>A	GRCh38
NC_000023.10:g.31697593C>A , CM000685.1:g.31697593C>A	GRCh37
NC_000023.9:g.31607514C>A	NCBI36
NG_012232.1:g.1665134G>T , LRG_199:g.1665134G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2617G>T	ENSP00000350765.3:p.Glu873Ter
ENST00000682238.1:c.391G>T	ENSP00000508124.1:p.Glu131Ter
ENST00000683117.1:n.1432G>T
ENST00000683450.1:n.1236G>T
ENST00000683851.1:n.1432G>T
ENST00000683957.1:n.1263G>T
ENST00000684130.1:c.391G>T	ENSP00000508037.1:p.Glu131Ter
ENST00000357033.9:c.7771G>T MANE Select	ENSP00000354923.3:p.Glu2591Ter
ENST00000619831.5:c.3739G>T	ENSP00000479270.2:p.Glu1247Ter
ENST00000620040.5:c.391G>T	ENSP00000478150.2:p.Glu131Ter
ENST00000680961.1:c.391G>T	ENSP00000506386.1:p.Glu131Ter
ENST00000681646.1:n.1432G>T
ENST00000681839.1:c.760G>T	ENSP00000505228.1:p.Glu254Ter
ENST00000357033.8:c.7771G>T	ENSP00000354923.3:p.Glu2591Ter
ENST00000358062.6:c.859G>T	ENSP00000350765.2:p.Glu287Ter
ENST00000359836.5:c.391G>T	ENSP00000352894.1:p.Glu131Ter
ENST00000378677.6:c.7759G>T	ENSP00000367948.2:p.Glu2587Ter
ENST00000378707.7:c.391G>T	ENSP00000367979.3:p.Glu131Ter
ENST00000474231.5:c.391G>T	ENSP00000417123.1:p.Glu131Ter
ENST00000541735.5:c.391G>T	ENSP00000444119.1:p.Glu131Ter
ENST00000619831.4:c.7756G>T	ENSP00000479270.1:p.Glu2586Ter
ENST00000620040.4:c.7768G>T	ENSP00000478150.1:p.Glu2590Ter
NM_000109.3:c.7747G>T	NP_000100.2:p.Glu2583Ter
NM_004006.2:c.7771G>T , LRG_199t1:c.7771G>T	NP_003997.1:p.Glu2591Ter
NM_004009.3:c.7759G>T	NP_004000.1:p.Glu2587Ter
NM_004010.3:c.7402G>T	NP_004001.1:p.Glu2468Ter
NM_004011.3:c.3748G>T	NP_004002.2:p.Glu1250Ter
NM_004012.3:c.3739G>T	NP_004003.1:p.Glu1247Ter
NM_004013.2:c.391G>T	NP_004004.1:p.Glu131Ter
NM_004020.3:c.391G>T	NP_004011.2:p.Glu131Ter
NM_004021.2:c.391G>T	NP_004012.1:p.Glu131Ter
NM_004022.2:c.391G>T	NP_004013.1:p.Glu131Ter
NM_004023.2:c.391G>T	NP_004014.1:p.Glu131Ter
XM_006724468.2:c.7771G>T	XP_006724531.1:p.Glu2591Ter
XM_006724469.2:c.7747G>T	XP_006724532.1:p.Glu2583Ter
XM_006724470.2:c.7771G>T	XP_006724533.1:p.Glu2591Ter
XM_006724471.2:c.7771G>T	XP_006724534.1:p.Glu2591Ter
XM_006724472.2:c.7642G>T	XP_006724535.1:p.Glu2548Ter
XM_006724473.2:c.7633G>T	XP_006724536.1:p.Glu2545Ter
XM_006724474.2:c.7771G>T	XP_006724537.1:p.Glu2591Ter
XM_006724475.2:c.7771G>T	XP_006724538.1:p.Glu2591Ter
XM_011545467.1:c.7648G>T	XP_011543769.1:p.Glu2550Ter
XM_011545468.1:c.7771G>T	XP_011543770.1:p.Glu2591Ter
XM_006724469.3:c.7747G>T	XP_006724532.1:p.Glu2583Ter
XM_006724470.3:c.7771G>T	XP_006724533.1:p.Glu2591Ter
XM_006724474.3:c.7771G>T	XP_006724537.1:p.Glu2591Ter
XM_011545468.2:c.7771G>T	XP_011543770.1:p.Glu2591Ter
XM_017029328.1:c.7771G>T	XP_016884817.1:p.Glu2591Ter
XM_017029331.1:c.1945G>T	XP_016884820.1:p.Glu649Ter
NM_000109.4:c.7747G>T	NP_000100.3:p.Glu2583Ter
NM_004006.3:c.7771G>T MANE Select	NP_003997.2:p.Glu2591Ter
NM_004011.4:c.3748G>T	NP_004002.3:p.Glu1250Ter
NM_004012.4:c.3739G>T	NP_004003.2:p.Glu1247Ter
NM_004021.3:c.391G>T	NP_004012.2:p.Glu131Ter
NM_004023.3:c.391G>T	NP_004014.2:p.Glu131Ter
NM_004013.3:c.391G>T	NP_004004.2:p.Glu131Ter
NM_004020.4:c.391G>T	NP_004011.3:p.Glu131Ter
NM_004022.3:c.391G>T	NP_004013.2:p.Glu131Ter