Canonical Allele Identifier: CA16616661

Gene: DMD

Linked Data

• ClinVar Variation Id: 415862
• ClinVar RCV Id: RCV001088464 ; RCV003991532
• dbSNP Id: rs1060504677
• gnomAD v4: X-31146284-C-A
• MyVariant Identifiers: chrX:g.31164401C>A (hg19) ; chrX:g.31146284C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31146284C>A , CM000685.2:g.31146284C>A	GRCh38
NC_000023.10:g.31164401C>A , CM000685.1:g.31164401C>A	GRCh37
NC_000023.9:g.31074322C>A	NCBI36
NG_012232.1:g.2198326G>T , LRG_199:g.2198326G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.5728+7G>T	ENSP00000350765.3:n.5728+7G>T
ENST00000680162.2:c.1612+7G>T	ENSP00000506634.2:n.1612+7G>T
ENST00000680768.2:c.1618+7G>T	ENSP00000506359.2:n.1618+7G>T
ENST00000681989.1:n.1719+7G>T
ENST00000682207.1:n.1041+7G>T
ENST00000682238.1:c.3211+7G>T	ENSP00000508124.1:n.3211+7G>T
ENST00000682322.1:c.1612+7G>T	ENSP00000507690.1:n.1612+7G>T
ENST00000682600.1:c.1678+7G>T	ENSP00000507640.1:n.1678+7G>T
ENST00000682746.1:n.311+7G>T
ENST00000682769.1:n.1513+7G>T
ENST00000683503.1:n.2736+7G>T
ENST00000683509.1:n.2399+7G>T
ENST00000683675.1:n.2020+7G>T
ENST00000683709.1:n.2400+7G>T
ENST00000683995.1:n.1066+7G>T
ENST00000684072.1:n.1150+7G>T
ENST00000684103.1:n.1329+7G>T
ENST00000684130.1:c.3502+7G>T	ENSP00000508037.1:n.3502+7G>T
ENST00000684247.1:n.393+7G>T
ENST00000684342.1:n.1965+7G>T
ENST00000684350.1:n.2736+7G>T
ENST00000343523.7:c.2776+7G>T	ENSP00000340057.4:n.2776+7G>T
ENST00000357033.9:c.10921+7G>T MANE Select	ENSP00000354923.3:n.10921+7G>T
ENST00000619831.5:c.6889+7G>T	ENSP00000479270.2:n.6889+7G>T
ENST00000620040.5:c.3335+1034G>T	ENSP00000478150.2:n.3335+1034G>T
ENST00000679437.1:c.583+7G>T	ENSP00000506629.1:n.583+7G>T
ENST00000679641.1:c.*593+7G>T	ENSP00000506135.1:n.*593+7G>T
ENST00000679706.1:c.548+7G>T
ENST00000679850.1:n.5932+7G>T
ENST00000680162.1:c.1594+7G>T	ENSP00000506634.1:n.1594+7G>T
ENST00000680355.1:c.1387+7G>T	ENSP00000506257.1:n.1387+7G>T
ENST00000680557.1:c.604-12090G>T	ENSP00000505164.1:n.604-12090G>T
ENST00000680701.1:n.696+7G>T
ENST00000680768.1:c.1621+7G>T	ENSP00000506359.1:n.1621+7G>T
ENST00000680961.1:c.*884+7G>T	ENSP00000506386.1:n.*884+7G>T
ENST00000681026.1:c.583+7G>T	ENSP00000506689.1:n.583+7G>T
ENST00000681153.1:c.1678+7G>T	ENSP00000505124.1:n.1678+7G>T
ENST00000343523.6:c.2734+7G>T	ENSP00000340057.3:n.2734+7G>T
ENST00000357033.8:c.10921+7G>T	ENSP00000354923.3:n.10921+7G>T
ENST00000358062.6:c.3970+7G>T	ENSP00000350765.2:n.3970+7G>T
ENST00000359836.5:c.3502+7G>T	ENSP00000352894.1:n.3502+7G>T
ENST00000361471.8:c.1678+7G>T	ENSP00000354464.4:n.1678+7G>T
ENST00000378677.6:c.10909+7G>T	ENSP00000367948.2:n.10909+7G>T
ENST00000378680.6:c.1387+7G>T	ENSP00000367951.2:n.1387+7G>T
ENST00000378702.8:c.1717+7G>T	ENSP00000367974.4:n.1717+7G>T
ENST00000378707.7:c.3541+7G>T	ENSP00000367979.3:n.3541+7G>T
ENST00000378723.7:c.1717+7G>T	ENSP00000367997.3:n.1717+7G>T
ENST00000474231.5:c.3541+7G>T	ENSP00000417123.1:n.3541+7G>T
ENST00000481143.2:n.114+23159G>T
ENST00000541735.5:c.3211+7G>T	ENSP00000444119.1:n.3211+7G>T
ENST00000619831.4:c.10906+7G>T	ENSP00000479270.1:n.10906+7G>T
ENST00000620040.4:c.10918+7G>T	ENSP00000478150.1:n.10918+7G>T
NM_000109.3:c.10897+7G>T	NP_000100.2:n.10897+7G>T
NM_004006.2:c.10921+7G>T , LRG_199t1:c.10921+7G>T	NP_003997.1:n.10921+7G>T
NM_004009.3:c.10909+7G>T	NP_004000.1:n.10909+7G>T
NM_004010.3:c.10552+7G>T	NP_004001.1:n.10552+7G>T
NM_004011.3:c.6898+7G>T	NP_004002.2:n.6898+7G>T
NM_004012.3:c.6889+7G>T	NP_004003.1:n.6889+7G>T
NM_004013.2:c.3541+7G>T	NP_004004.1:n.3541+7G>T
NM_004014.2:c.2734+7G>T	NP_004005.1:n.2734+7G>T
NM_004015.2:c.1717+7G>T	NP_004006.1:n.1717+7G>T
NM_004016.2:c.1717+7G>T	NP_004007.1:n.1717+7G>T
NM_004017.2:c.1678+7G>T	NP_004008.1:n.1678+7G>T
NM_004018.2:c.1678+7G>T	NP_004009.1:n.1678+7G>T
NM_004020.3:c.3211+7G>T	NP_004011.2:n.3211+7G>T
NM_004021.2:c.3541+7G>T	NP_004012.1:n.3541+7G>T
NM_004022.2:c.3502+7G>T	NP_004013.1:n.3502+7G>T
NM_004023.2:c.3211+7G>T	NP_004014.1:n.3211+7G>T
XM_006724468.2:c.10921+7G>T	XP_006724531.1:n.10921+7G>T
XM_006724469.2:c.10897+7G>T	XP_006724532.1:n.10897+7G>T
XM_006724470.2:c.10882+7G>T	XP_006724533.1:n.10882+7G>T
XM_006724471.2:c.10816+7G>T	XP_006724534.1:n.10816+7G>T
XM_006724472.2:c.10792+7G>T	XP_006724535.1:n.10792+7G>T
XM_006724473.2:c.10783+7G>T	XP_006724536.1:n.10783+7G>T
XM_006724474.2:c.10591+7G>T	XP_006724537.1:n.10591+7G>T
XM_006724475.2:c.10591+7G>T	XP_006724538.1:n.10591+7G>T
XM_011545467.1:c.10798+7G>T	XP_011543769.1:n.10798+7G>T
XM_006724469.3:c.10897+7G>T	XP_006724532.1:n.10897+7G>T
XM_006724470.3:c.10882+7G>T	XP_006724533.1:n.10882+7G>T
XM_006724474.3:c.10591+7G>T	XP_006724537.1:n.10591+7G>T
XM_017029328.1:c.10882+7G>T	XP_016884817.1:n.10882+7G>T
XM_017029331.1:c.5095+7G>T	XP_016884820.1:n.5095+7G>T
NM_000109.4:c.10897+7G>T	NP_000100.3:n.10897+7G>T
NM_004006.3:c.10921+7G>T MANE Select	NP_003997.2:n.10921+7G>T
NM_004011.4:c.6898+7G>T	NP_004002.3:n.6898+7G>T
NM_004012.4:c.6889+7G>T	NP_004003.2:n.6889+7G>T
NM_004015.3:c.1717+7G>T	NP_004006.1:n.1717+7G>T
NM_004016.3:c.1717+7G>T	NP_004007.1:n.1717+7G>T
NM_004017.3:c.1678+7G>T	NP_004008.1:n.1678+7G>T
NM_004018.3:c.1678+7G>T	NP_004009.1:n.1678+7G>T
NM_004021.3:c.3541+7G>T	NP_004012.2:n.3541+7G>T
NM_004023.3:c.3211+7G>T	NP_004014.2:n.3211+7G>T
NM_004013.3:c.3541+7G>T	NP_004004.2:n.3541+7G>T
NM_004014.3:c.2734+7G>T	NP_004005.2:n.2734+7G>T
NM_004020.4:c.3211+7G>T	NP_004011.3:n.3211+7G>T
NM_004022.3:c.3502+7G>T	NP_004013.2:n.3502+7G>T