Canonical Allele Identifier: CA412652464

Gene: DMD

Linked Data

• ClinVar Variation Id: 1380174
• ClinVar RCV Id: RCV001892180
• dbSNP Id: rs2147648996
• MyVariant Identifiers: chrX:g.31279090C>A (hg19) ; chrX:g.31260973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31260973C>A , CM000685.2:g.31260973C>A	GRCh38
NC_000023.10:g.31279090C>A , CM000685.1:g.31279090C>A	GRCh37
NC_000023.9:g.31189011C>A	NCBI36
NG_012232.1:g.2083637G>T , LRG_199:g.2083637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4114G>T	ENSP00000350765.3:p.Glu1372Ter
ENST00000680162.2:c.64G>T	ENSP00000506634.2:p.Glu22Ter
ENST00000680768.2:c.64G>T	ENSP00000506359.2:p.Glu22Ter
ENST00000682238.1:c.1888G>T	ENSP00000508124.1:p.Glu630Ter
ENST00000682322.1:c.64G>T	ENSP00000507690.1:p.Glu22Ter
ENST00000682600.1:c.64G>T	ENSP00000507640.1:p.Glu22Ter
ENST00000683509.1:n.785G>T
ENST00000683675.1:n.367G>T
ENST00000683709.1:n.786G>T
ENST00000683957.1:n.2760G>T
ENST00000684130.1:c.1888G>T	ENSP00000508037.1:p.Glu630Ter
ENST00000343523.7:c.1123G>T	ENSP00000340057.4:p.Glu375Ter
ENST00000357033.9:c.9268G>T MANE Select	ENSP00000354923.3:p.Glu3090Ter
ENST00000619831.5:c.5236G>T	ENSP00000479270.2:p.Glu1746Ter
ENST00000620040.5:c.1888G>T	ENSP00000478150.2:p.Glu630Ter
ENST00000679641.1:c.64G>T	ENSP00000506135.1:p.Glu22Ter
ENST00000680216.1:c.44G>T
ENST00000680355.1:c.64G>T	ENSP00000506257.1:p.Glu22Ter
ENST00000680557.1:c.64G>T	ENSP00000505164.1:p.Glu22Ter
ENST00000680768.1:c.7G>T	ENSP00000506359.1:p.Glu3Ter
ENST00000680961.1:c.1888G>T	ENSP00000506386.1:p.Glu630Ter
ENST00000681153.1:c.64G>T	ENSP00000505124.1:p.Glu22Ter
ENST00000681334.1:c.64G>T	ENSP00000506066.1:p.Glu22Ter
ENST00000681646.1:n.2929G>T
ENST00000681654.1:n.198G>T
ENST00000681870.1:c.64G>T	ENSP00000506709.1:p.Glu22Ter
ENST00000343523.6:c.1081G>T	ENSP00000340057.3:p.Glu361Ter
ENST00000357033.8:c.9268G>T	ENSP00000354923.3:p.Glu3090Ter
ENST00000358062.6:c.2356G>T	ENSP00000350765.2:p.Glu786Ter
ENST00000359836.5:c.1888G>T	ENSP00000352894.1:p.Glu630Ter
ENST00000361471.8:c.64G>T	ENSP00000354464.4:p.Glu22Ter
ENST00000378677.6:c.9256G>T	ENSP00000367948.2:p.Glu3086Ter
ENST00000378680.6:c.64G>T	ENSP00000367951.2:p.Glu22Ter
ENST00000378702.8:c.64G>T	ENSP00000367974.4:p.Glu22Ter
ENST00000378707.7:c.1888G>T	ENSP00000367979.3:p.Glu630Ter
ENST00000378723.7:c.64G>T	ENSP00000367997.3:p.Glu22Ter
ENST00000469142.1:n.287G>T
ENST00000474231.5:c.1888G>T	ENSP00000417123.1:p.Glu630Ter
ENST00000541735.5:c.1888G>T	ENSP00000444119.1:p.Glu630Ter
ENST00000619831.4:c.9253G>T	ENSP00000479270.1:p.Glu3085Ter
ENST00000620040.4:c.9265G>T	ENSP00000478150.1:p.Glu3089Ter
NM_000109.3:c.9244G>T	NP_000100.2:p.Glu3082Ter
NM_004006.2:c.9268G>T , LRG_199t1:c.9268G>T	NP_003997.1:p.Glu3090Ter
NM_004009.3:c.9256G>T	NP_004000.1:p.Glu3086Ter
NM_004010.3:c.8899G>T	NP_004001.1:p.Glu2967Ter
NM_004011.3:c.5245G>T	NP_004002.2:p.Glu1749Ter
NM_004012.3:c.5236G>T	NP_004003.1:p.Glu1746Ter
NM_004013.2:c.1888G>T	NP_004004.1:p.Glu630Ter
NM_004014.2:c.1081G>T	NP_004005.1:p.Glu361Ter
NM_004015.2:c.64G>T	NP_004006.1:p.Glu22Ter
NM_004016.2:c.64G>T	NP_004007.1:p.Glu22Ter
NM_004017.2:c.64G>T	NP_004008.1:p.Glu22Ter
NM_004018.2:c.64G>T	NP_004009.1:p.Glu22Ter
NM_004019.2:c.64G>T	NP_004010.1:p.Glu22Ter
NM_004020.3:c.1888G>T	NP_004011.2:p.Glu630Ter
NM_004021.2:c.1888G>T	NP_004012.1:p.Glu630Ter
NM_004022.2:c.1888G>T	NP_004013.1:p.Glu630Ter
NM_004023.2:c.1888G>T	NP_004014.1:p.Glu630Ter
XM_006724468.2:c.9268G>T	XP_006724531.1:p.Glu3090Ter
XM_006724469.2:c.9244G>T	XP_006724532.1:p.Glu3082Ter
XM_006724470.2:c.9268G>T	XP_006724533.1:p.Glu3090Ter
XM_006724471.2:c.9268G>T	XP_006724534.1:p.Glu3090Ter
XM_006724472.2:c.9139G>T	XP_006724535.1:p.Glu3047Ter
XM_006724473.2:c.9130G>T	XP_006724536.1:p.Glu3044Ter
XM_006724474.2:c.9268G>T	XP_006724537.1:p.Glu3090Ter
XM_006724475.2:c.9268G>T	XP_006724538.1:p.Glu3090Ter
XM_011545467.1:c.9145G>T	XP_011543769.1:p.Glu3049Ter
XM_011545468.1:c.9268G>T	XP_011543770.1:p.Glu3090Ter
XM_006724469.3:c.9244G>T	XP_006724532.1:p.Glu3082Ter
XM_006724470.3:c.9268G>T	XP_006724533.1:p.Glu3090Ter
XM_006724474.3:c.9268G>T	XP_006724537.1:p.Glu3090Ter
XM_011545468.2:c.9268G>T	XP_011543770.1:p.Glu3090Ter
XM_017029328.1:c.9268G>T	XP_016884817.1:p.Glu3090Ter
XM_017029331.1:c.3442G>T	XP_016884820.1:p.Glu1148Ter
NM_000109.4:c.9244G>T	NP_000100.3:p.Glu3082Ter
NM_004006.3:c.9268G>T MANE Select	NP_003997.2:p.Glu3090Ter
NM_004011.4:c.5245G>T	NP_004002.3:p.Glu1749Ter
NM_004012.4:c.5236G>T	NP_004003.2:p.Glu1746Ter
NM_004015.3:c.64G>T	NP_004006.1:p.Glu22Ter
NM_004016.3:c.64G>T	NP_004007.1:p.Glu22Ter
NM_004017.3:c.64G>T	NP_004008.1:p.Glu22Ter
NM_004018.3:c.64G>T	NP_004009.1:p.Glu22Ter
NM_004019.3:c.64G>T	NP_004010.1:p.Glu22Ter
NM_004021.3:c.1888G>T	NP_004012.2:p.Glu630Ter
NM_004023.3:c.1888G>T	NP_004014.2:p.Glu630Ter
NM_004013.3:c.1888G>T	NP_004004.2:p.Glu630Ter
NM_004014.3:c.1081G>T	NP_004005.2:p.Glu361Ter
NM_004020.4:c.1888G>T	NP_004011.3:p.Glu630Ter
NM_004022.3:c.1888G>T	NP_004013.2:p.Glu630Ter