Canonical Allele Identifier: CA273299

Gene: DMD

Linked Data

• ClinVar Variation Id: 166668
• ClinVar RCV Id: RCV000152766 ; RCV001850083
• dbSNP Id: rs727503802
• COSMIC: COSM4386066 ; COSM4386067 ; COSM4386068 ; COSM4386069 ; COSM4386070
• MyVariant Identifiers: chrX:g.31496480C>A (hg19) ; chrX:g.31478363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31478363C>A , CM000685.2:g.31478363C>A	GRCh38
NC_000023.10:g.31496480C>A , CM000685.1:g.31496480C>A	GRCh37
NC_000023.9:g.31406401C>A	NCBI36
NG_012232.1:g.1866247G>T , LRG_199:g.1866247G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3526G>T	ENSP00000350765.3:p.Glu1176Ter
ENST00000682238.1:c.1300G>T	ENSP00000508124.1:p.Glu434Ter
ENST00000683450.1:n.2145G>T
ENST00000683957.1:n.2172G>T
ENST00000684130.1:c.1300G>T	ENSP00000508037.1:p.Glu434Ter
ENST00000343523.7:c.535G>T	ENSP00000340057.4:p.Glu179Ter
ENST00000357033.9:c.8680G>T MANE Select	ENSP00000354923.3:p.Glu2894Ter
ENST00000619831.5:c.4648G>T	ENSP00000479270.2:p.Glu1550Ter
ENST00000620040.5:c.1300G>T	ENSP00000478150.2:p.Glu434Ter
ENST00000680961.1:c.1300G>T	ENSP00000506386.1:p.Glu434Ter
ENST00000681646.1:n.2341G>T
ENST00000343523.6:c.493G>T	ENSP00000340057.3:p.Glu165Ter
ENST00000357033.8:c.8680G>T	ENSP00000354923.3:p.Glu2894Ter
ENST00000358062.6:c.1768G>T	ENSP00000350765.2:p.Glu590Ter
ENST00000359836.5:c.1300G>T	ENSP00000352894.1:p.Glu434Ter
ENST00000378677.6:c.8668G>T	ENSP00000367948.2:p.Glu2890Ter
ENST00000378707.7:c.1300G>T	ENSP00000367979.3:p.Glu434Ter
ENST00000445312.1:n.737G>T
ENST00000474231.5:c.1300G>T	ENSP00000417123.1:p.Glu434Ter
ENST00000541735.5:c.1300G>T	ENSP00000444119.1:p.Glu434Ter
ENST00000619831.4:c.8665G>T	ENSP00000479270.1:p.Glu2889Ter
ENST00000620040.4:c.8677G>T	ENSP00000478150.1:p.Glu2893Ter
NM_000109.3:c.8656G>T	NP_000100.2:p.Glu2886Ter
NM_004006.2:c.8680G>T , LRG_199t1:c.8680G>T	NP_003997.1:p.Glu2894Ter
NM_004009.3:c.8668G>T	NP_004000.1:p.Glu2890Ter
NM_004010.3:c.8311G>T	NP_004001.1:p.Glu2771Ter
NM_004011.3:c.4657G>T	NP_004002.2:p.Glu1553Ter
NM_004012.3:c.4648G>T	NP_004003.1:p.Glu1550Ter
NM_004013.2:c.1300G>T	NP_004004.1:p.Glu434Ter
NM_004014.2:c.493G>T	NP_004005.1:p.Glu165Ter
NM_004020.3:c.1300G>T	NP_004011.2:p.Glu434Ter
NM_004021.2:c.1300G>T	NP_004012.1:p.Glu434Ter
NM_004022.2:c.1300G>T	NP_004013.1:p.Glu434Ter
NM_004023.2:c.1300G>T	NP_004014.1:p.Glu434Ter
XM_006724468.2:c.8680G>T	XP_006724531.1:p.Glu2894Ter
XM_006724469.2:c.8656G>T	XP_006724532.1:p.Glu2886Ter
XM_006724470.2:c.8680G>T	XP_006724533.1:p.Glu2894Ter
XM_006724471.2:c.8680G>T	XP_006724534.1:p.Glu2894Ter
XM_006724472.2:c.8551G>T	XP_006724535.1:p.Glu2851Ter
XM_006724473.2:c.8542G>T	XP_006724536.1:p.Glu2848Ter
XM_006724474.2:c.8680G>T	XP_006724537.1:p.Glu2894Ter
XM_006724475.2:c.8680G>T	XP_006724538.1:p.Glu2894Ter
XM_011545467.1:c.8557G>T	XP_011543769.1:p.Glu2853Ter
XM_011545468.1:c.8680G>T	XP_011543770.1:p.Glu2894Ter
XM_006724469.3:c.8656G>T	XP_006724532.1:p.Glu2886Ter
XM_006724470.3:c.8680G>T	XP_006724533.1:p.Glu2894Ter
XM_006724474.3:c.8680G>T	XP_006724537.1:p.Glu2894Ter
XM_011545468.2:c.8680G>T	XP_011543770.1:p.Glu2894Ter
XM_017029328.1:c.8680G>T	XP_016884817.1:p.Glu2894Ter
XM_017029331.1:c.2854G>T	XP_016884820.1:p.Glu952Ter
NM_000109.4:c.8656G>T	NP_000100.3:p.Glu2886Ter
NM_004006.3:c.8680G>T MANE Select	NP_003997.2:p.Glu2894Ter
NM_004011.4:c.4657G>T	NP_004002.3:p.Glu1553Ter
NM_004012.4:c.4648G>T	NP_004003.2:p.Glu1550Ter
NM_004021.3:c.1300G>T	NP_004012.2:p.Glu434Ter
NM_004023.3:c.1300G>T	NP_004014.2:p.Glu434Ter
NM_004013.3:c.1300G>T	NP_004004.2:p.Glu434Ter
NM_004014.3:c.493G>T	NP_004005.2:p.Glu165Ter
NM_004020.4:c.1300G>T	NP_004011.3:p.Glu434Ter
NM_004022.3:c.1300G>T	NP_004013.2:p.Glu434Ter