Canonical Allele Identifier: CA10604800

Gene: DMD

Linked Data

• ClinVar Variation Id: 284461
• ClinVar RCV Id: RCV000322331 ; RCV001382719
• dbSNP Id: rs886042875
• MyVariant Identifiers: chrX:g.31198511A>T (hg19) ; chrX:g.31180394A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31180394A>T , CM000685.2:g.31180394A>T	GRCh38
NC_000023.10:g.31198511A>T , CM000685.1:g.31198511A>T	GRCh37
NC_000023.9:g.31108432A>T	NCBI36
NG_012232.1:g.2164216T>A , LRG_199:g.2164216T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4908T>A	ENSP00000350765.3:p.Tyr1636Ter
ENST00000475732.3:n.2409T>A
ENST00000680162.2:c.858T>A	ENSP00000506634.2:p.Tyr286Ter
ENST00000680768.2:c.858T>A	ENSP00000506359.2:p.Tyr286Ter
ENST00000681989.1:n.860T>A
ENST00000682238.1:c.2682T>A	ENSP00000508124.1:p.Tyr894Ter
ENST00000682322.1:c.858T>A	ENSP00000507690.1:p.Tyr286Ter
ENST00000682600.1:c.858T>A	ENSP00000507640.1:p.Tyr286Ter
ENST00000682769.1:n.693T>A
ENST00000683509.1:n.1579T>A
ENST00000683675.1:n.1161T>A
ENST00000683709.1:n.1580T>A
ENST00000683957.1:n.3554T>A
ENST00000684130.1:c.2682T>A	ENSP00000508037.1:p.Tyr894Ter
ENST00000343523.7:c.1917T>A	ENSP00000340057.4:p.Tyr639Ter
ENST00000357033.9:c.10062T>A MANE Select	ENSP00000354923.3:p.Tyr3354Ter
ENST00000475732.2:n.428T>A
ENST00000619831.5:c.6030T>A	ENSP00000479270.2:p.Tyr2010Ter
ENST00000620040.5:c.2682T>A	ENSP00000478150.2:p.Tyr894Ter
ENST00000679641.1:c.*64T>A	ENSP00000506135.1:n.*64T>A
ENST00000679706.1:c.19T>A
ENST00000680162.1:c.735T>A	ENSP00000506634.1:p.Tyr245Ter
ENST00000680355.1:c.858T>A	ENSP00000506257.1:p.Tyr286Ter
ENST00000680557.1:c.603+23567T>A	ENSP00000505164.1:n.603+23567T>A
ENST00000680768.1:c.801T>A	ENSP00000506359.1:p.Tyr267Ter
ENST00000680961.1:c.*64T>A	ENSP00000506386.1:n.*64T>A
ENST00000681153.1:c.858T>A	ENSP00000505124.1:p.Tyr286Ter
ENST00000681654.1:n.992T>A
ENST00000343523.6:c.1875T>A	ENSP00000340057.3:p.Tyr625Ter
ENST00000357033.8:c.10062T>A	ENSP00000354923.3:p.Tyr3354Ter
ENST00000358062.6:c.3150T>A	ENSP00000350765.2:p.Tyr1050Ter
ENST00000359836.5:c.2682T>A	ENSP00000352894.1:p.Tyr894Ter
ENST00000361471.8:c.858T>A	ENSP00000354464.4:p.Tyr286Ter
ENST00000378677.6:c.10050T>A	ENSP00000367948.2:p.Tyr3350Ter
ENST00000378680.6:c.858T>A	ENSP00000367951.2:p.Tyr286Ter
ENST00000378702.8:c.858T>A	ENSP00000367974.4:p.Tyr286Ter
ENST00000378705.3:c.432T>A	ENSP00000367977.3:p.Tyr144Ter
ENST00000378707.7:c.2682T>A	ENSP00000367979.3:p.Tyr894Ter
ENST00000378723.7:c.858T>A	ENSP00000367997.3:p.Tyr286Ter
ENST00000474231.5:c.2682T>A	ENSP00000417123.1:p.Tyr894Ter
ENST00000475732.1:n.278T>A
ENST00000541735.5:c.2682T>A	ENSP00000444119.1:p.Tyr894Ter
ENST00000619831.4:c.10047T>A	ENSP00000479270.1:p.Tyr3349Ter
ENST00000620040.4:c.10059T>A	ENSP00000478150.1:p.Tyr3353Ter
NM_000109.3:c.10038T>A	NP_000100.2:p.Tyr3346Ter
NM_004006.2:c.10062T>A , LRG_199t1:c.10062T>A	NP_003997.1:p.Tyr3354Ter
NM_004009.3:c.10050T>A	NP_004000.1:p.Tyr3350Ter
NM_004010.3:c.9693T>A	NP_004001.1:p.Tyr3231Ter
NM_004011.3:c.6039T>A	NP_004002.2:p.Tyr2013Ter
NM_004012.3:c.6030T>A	NP_004003.1:p.Tyr2010Ter
NM_004013.2:c.2682T>A	NP_004004.1:p.Tyr894Ter
NM_004014.2:c.1875T>A	NP_004005.1:p.Tyr625Ter
NM_004015.2:c.858T>A	NP_004006.1:p.Tyr286Ter
NM_004016.2:c.858T>A	NP_004007.1:p.Tyr286Ter
NM_004017.2:c.858T>A	NP_004008.1:p.Tyr286Ter
NM_004018.2:c.858T>A	NP_004009.1:p.Tyr286Ter
NM_004019.2:c.858T>A	NP_004010.1:p.Tyr286Ter
NM_004020.3:c.2682T>A	NP_004011.2:p.Tyr894Ter
NM_004021.2:c.2682T>A	NP_004012.1:p.Tyr894Ter
NM_004022.2:c.2682T>A	NP_004013.1:p.Tyr894Ter
NM_004023.2:c.2682T>A	NP_004014.1:p.Tyr894Ter
XM_006724468.2:c.10062T>A	XP_006724531.1:p.Tyr3354Ter
XM_006724469.2:c.10038T>A	XP_006724532.1:p.Tyr3346Ter
XM_006724470.2:c.10062T>A	XP_006724533.1:p.Tyr3354Ter
XM_006724471.2:c.10062T>A	XP_006724534.1:p.Tyr3354Ter
XM_006724472.2:c.9933T>A	XP_006724535.1:p.Tyr3311Ter
XM_006724473.2:c.9924T>A	XP_006724536.1:p.Tyr3308Ter
XM_006724474.2:c.10062T>A	XP_006724537.1:p.Tyr3354Ter
XM_006724475.2:c.10062T>A	XP_006724538.1:p.Tyr3354Ter
XM_011545467.1:c.9939T>A	XP_011543769.1:p.Tyr3313Ter
XM_006724469.3:c.10038T>A	XP_006724532.1:p.Tyr3346Ter
XM_006724470.3:c.10062T>A	XP_006724533.1:p.Tyr3354Ter
XM_006724474.3:c.10062T>A	XP_006724537.1:p.Tyr3354Ter
XM_017029328.1:c.10062T>A	XP_016884817.1:p.Tyr3354Ter
XM_017029331.1:c.4236T>A	XP_016884820.1:p.Tyr1412Ter
NM_000109.4:c.10038T>A	NP_000100.3:p.Tyr3346Ter
NM_004006.3:c.10062T>A MANE Select	NP_003997.2:p.Tyr3354Ter
NM_004011.4:c.6039T>A	NP_004002.3:p.Tyr2013Ter
NM_004012.4:c.6030T>A	NP_004003.2:p.Tyr2010Ter
NM_004015.3:c.858T>A	NP_004006.1:p.Tyr286Ter
NM_004016.3:c.858T>A	NP_004007.1:p.Tyr286Ter
NM_004017.3:c.858T>A	NP_004008.1:p.Tyr286Ter
NM_004018.3:c.858T>A	NP_004009.1:p.Tyr286Ter
NM_004019.3:c.858T>A	NP_004010.1:p.Tyr286Ter
NM_004021.3:c.2682T>A	NP_004012.2:p.Tyr894Ter
NM_004023.3:c.2682T>A	NP_004014.2:p.Tyr894Ter
NM_004013.3:c.2682T>A	NP_004004.2:p.Tyr894Ter
NM_004014.3:c.1875T>A	NP_004005.2:p.Tyr625Ter
NM_004020.4:c.2682T>A	NP_004011.3:p.Tyr894Ter
NM_004022.3:c.2682T>A	NP_004013.2:p.Tyr894Ter