Canonical Allele Identifier: CA412652434

Gene: DMD

Linked Data

• COSMIC: COSM1120139 ; COSM1120141 ; COSM1120143 ; COSM1120144 ; COSM1599222 ; COSM1599223
• MyVariant Identifiers: chrX:g.31279077G>T (hg19) ; chrX:g.31260960G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31260960G>T , CM000685.2:g.31260960G>T	GRCh38
NC_000023.10:g.31279077G>T , CM000685.1:g.31279077G>T	GRCh37
NC_000023.9:g.31188998G>T	NCBI36
NG_012232.1:g.2083650C>A , LRG_199:g.2083650C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4127C>A	ENSP00000350765.3:p.Ser1376Tyr
ENST00000680162.2:c.77C>A	ENSP00000506634.2:p.Ser26Tyr
ENST00000680768.2:c.77C>A	ENSP00000506359.2:p.Ser26Tyr
ENST00000682238.1:c.1901C>A	ENSP00000508124.1:p.Ser634Tyr
ENST00000682322.1:c.77C>A	ENSP00000507690.1:p.Ser26Tyr
ENST00000682600.1:c.77C>A	ENSP00000507640.1:p.Ser26Tyr
ENST00000683509.1:n.798C>A
ENST00000683675.1:n.380C>A
ENST00000683709.1:n.799C>A
ENST00000683957.1:n.2773C>A
ENST00000684130.1:c.1901C>A	ENSP00000508037.1:p.Ser634Tyr
ENST00000343523.7:c.1136C>A	ENSP00000340057.4:p.Ser379Tyr
ENST00000357033.9:c.9281C>A MANE Select	ENSP00000354923.3:p.Ser3094Tyr
ENST00000619831.5:c.5249C>A	ENSP00000479270.2:p.Ser1750Tyr
ENST00000620040.5:c.1901C>A	ENSP00000478150.2:p.Ser634Tyr
ENST00000679641.1:c.77C>A	ENSP00000506135.1:p.Ser26Tyr
ENST00000680216.1:c.57C>A
ENST00000680355.1:c.77C>A	ENSP00000506257.1:p.Ser26Tyr
ENST00000680557.1:c.77C>A	ENSP00000505164.1:p.Ser26Tyr
ENST00000680768.1:c.20C>A	ENSP00000506359.1:p.Ser7Tyr
ENST00000680961.1:c.1901C>A	ENSP00000506386.1:p.Ser634Tyr
ENST00000681153.1:c.77C>A	ENSP00000505124.1:p.Ser26Tyr
ENST00000681334.1:c.77C>A	ENSP00000506066.1:p.Ser26Tyr
ENST00000681646.1:n.2942C>A
ENST00000681654.1:n.211C>A
ENST00000681870.1:c.77C>A	ENSP00000506709.1:p.Ser26Tyr
ENST00000343523.6:c.1094C>A	ENSP00000340057.3:p.Ser365Tyr
ENST00000357033.8:c.9281C>A	ENSP00000354923.3:p.Ser3094Tyr
ENST00000358062.6:c.2369C>A	ENSP00000350765.2:p.Ser790Tyr
ENST00000359836.5:c.1901C>A	ENSP00000352894.1:p.Ser634Tyr
ENST00000361471.8:c.77C>A	ENSP00000354464.4:p.Ser26Tyr
ENST00000378677.6:c.9269C>A	ENSP00000367948.2:p.Ser3090Tyr
ENST00000378680.6:c.77C>A	ENSP00000367951.2:p.Ser26Tyr
ENST00000378702.8:c.77C>A	ENSP00000367974.4:p.Ser26Tyr
ENST00000378707.7:c.1901C>A	ENSP00000367979.3:p.Ser634Tyr
ENST00000378723.7:c.77C>A	ENSP00000367997.3:p.Ser26Tyr
ENST00000469142.1:n.300C>A
ENST00000474231.5:c.1901C>A	ENSP00000417123.1:p.Ser634Tyr
ENST00000541735.5:c.1901C>A	ENSP00000444119.1:p.Ser634Tyr
ENST00000619831.4:c.9266C>A	ENSP00000479270.1:p.Ser3089Tyr
ENST00000620040.4:c.9278C>A	ENSP00000478150.1:p.Ser3093Tyr
NM_000109.3:c.9257C>A	NP_000100.2:p.Ser3086Tyr
NM_004006.2:c.9281C>A , LRG_199t1:c.9281C>A	NP_003997.1:p.Ser3094Tyr
NM_004009.3:c.9269C>A	NP_004000.1:p.Ser3090Tyr
NM_004010.3:c.8912C>A	NP_004001.1:p.Ser2971Tyr
NM_004011.3:c.5258C>A	NP_004002.2:p.Ser1753Tyr
NM_004012.3:c.5249C>A	NP_004003.1:p.Ser1750Tyr
NM_004013.2:c.1901C>A	NP_004004.1:p.Ser634Tyr
NM_004014.2:c.1094C>A	NP_004005.1:p.Ser365Tyr
NM_004015.2:c.77C>A	NP_004006.1:p.Ser26Tyr
NM_004016.2:c.77C>A	NP_004007.1:p.Ser26Tyr
NM_004017.2:c.77C>A	NP_004008.1:p.Ser26Tyr
NM_004018.2:c.77C>A	NP_004009.1:p.Ser26Tyr
NM_004019.2:c.77C>A	NP_004010.1:p.Ser26Tyr
NM_004020.3:c.1901C>A	NP_004011.2:p.Ser634Tyr
NM_004021.2:c.1901C>A	NP_004012.1:p.Ser634Tyr
NM_004022.2:c.1901C>A	NP_004013.1:p.Ser634Tyr
NM_004023.2:c.1901C>A	NP_004014.1:p.Ser634Tyr
XM_006724468.2:c.9281C>A	XP_006724531.1:p.Ser3094Tyr
XM_006724469.2:c.9257C>A	XP_006724532.1:p.Ser3086Tyr
XM_006724470.2:c.9281C>A	XP_006724533.1:p.Ser3094Tyr
XM_006724471.2:c.9281C>A	XP_006724534.1:p.Ser3094Tyr
XM_006724472.2:c.9152C>A	XP_006724535.1:p.Ser3051Tyr
XM_006724473.2:c.9143C>A	XP_006724536.1:p.Ser3048Tyr
XM_006724474.2:c.9281C>A	XP_006724537.1:p.Ser3094Tyr
XM_006724475.2:c.9281C>A	XP_006724538.1:p.Ser3094Tyr
XM_011545467.1:c.9158C>A	XP_011543769.1:p.Ser3053Tyr
XM_011545468.1:c.9281C>A	XP_011543770.1:p.Ser3094Tyr
XM_006724469.3:c.9257C>A	XP_006724532.1:p.Ser3086Tyr
XM_006724470.3:c.9281C>A	XP_006724533.1:p.Ser3094Tyr
XM_006724474.3:c.9281C>A	XP_006724537.1:p.Ser3094Tyr
XM_011545468.2:c.9281C>A	XP_011543770.1:p.Ser3094Tyr
XM_017029328.1:c.9281C>A	XP_016884817.1:p.Ser3094Tyr
XM_017029331.1:c.3455C>A	XP_016884820.1:p.Ser1152Tyr
NM_000109.4:c.9257C>A	NP_000100.3:p.Ser3086Tyr
NM_004006.3:c.9281C>A MANE Select	NP_003997.2:p.Ser3094Tyr
NM_004011.4:c.5258C>A	NP_004002.3:p.Ser1753Tyr
NM_004012.4:c.5249C>A	NP_004003.2:p.Ser1750Tyr
NM_004015.3:c.77C>A	NP_004006.1:p.Ser26Tyr
NM_004016.3:c.77C>A	NP_004007.1:p.Ser26Tyr
NM_004017.3:c.77C>A	NP_004008.1:p.Ser26Tyr
NM_004018.3:c.77C>A	NP_004009.1:p.Ser26Tyr
NM_004019.3:c.77C>A	NP_004010.1:p.Ser26Tyr
NM_004021.3:c.1901C>A	NP_004012.2:p.Ser634Tyr
NM_004023.3:c.1901C>A	NP_004014.2:p.Ser634Tyr
NM_004013.3:c.1901C>A	NP_004004.2:p.Ser634Tyr
NM_004014.3:c.1094C>A	NP_004005.2:p.Ser365Tyr
NM_004020.4:c.1901C>A	NP_004011.3:p.Ser634Tyr
NM_004022.3:c.1901C>A	NP_004013.2:p.Ser634Tyr