Canonical Allele Identifier: CA515858525

Gene: DMD

Linked Data

• ClinVar Variation Id: 1649453
• ClinVar RCV Id: RCV002146404
• dbSNP Id: rs2147648728
• MyVariant Identifiers: chrX:g.31279079C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31260962C>T , CM000685.2:g.31260962C>T	GRCh38
NC_000023.10:g.31279079C>T , CM000685.1:g.31279079C>T	GRCh37
NC_000023.9:g.31189000C>T	NCBI36
NG_012232.1:g.2083648G>A , LRG_199:g.2083648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4125G>A	ENSP00000350765.3:p.Gln1375=
ENST00000680162.2:c.75G>A	ENSP00000506634.2:p.Gln25=
ENST00000680768.2:c.75G>A	ENSP00000506359.2:p.Gln25=
ENST00000682238.1:c.1899G>A	ENSP00000508124.1:p.Gln633=
ENST00000682322.1:c.75G>A	ENSP00000507690.1:p.Gln25=
ENST00000682600.1:c.75G>A	ENSP00000507640.1:p.Gln25=
ENST00000683509.1:n.796G>A
ENST00000683675.1:n.378G>A
ENST00000683709.1:n.797G>A
ENST00000683957.1:n.2771G>A
ENST00000684130.1:c.1899G>A	ENSP00000508037.1:p.Gln633=
ENST00000343523.7:c.1134G>A	ENSP00000340057.4:p.Gln378=
ENST00000357033.9:c.9279G>A MANE Select	ENSP00000354923.3:p.Gln3093=
ENST00000619831.5:c.5247G>A	ENSP00000479270.2:p.Gln1749=
ENST00000620040.5:c.1899G>A	ENSP00000478150.2:p.Gln633=
ENST00000679641.1:c.75G>A	ENSP00000506135.1:p.Gln25=
ENST00000680216.1:c.55G>A
ENST00000680355.1:c.75G>A	ENSP00000506257.1:p.Gln25=
ENST00000680557.1:c.75G>A	ENSP00000505164.1:p.Gln25=
ENST00000680768.1:c.18G>A	ENSP00000506359.1:p.Gln6=
ENST00000680961.1:c.1899G>A	ENSP00000506386.1:p.Gln633=
ENST00000681153.1:c.75G>A	ENSP00000505124.1:p.Gln25=
ENST00000681334.1:c.75G>A	ENSP00000506066.1:p.Gln25=
ENST00000681646.1:n.2940G>A
ENST00000681654.1:n.209G>A
ENST00000681870.1:c.75G>A	ENSP00000506709.1:p.Gln25=
ENST00000343523.6:c.1092G>A	ENSP00000340057.3:p.Gln364=
ENST00000357033.8:c.9279G>A	ENSP00000354923.3:p.Gln3093=
ENST00000358062.6:c.2367G>A	ENSP00000350765.2:p.Gln789=
ENST00000359836.5:c.1899G>A	ENSP00000352894.1:p.Gln633=
ENST00000361471.8:c.75G>A	ENSP00000354464.4:p.Gln25=
ENST00000378677.6:c.9267G>A	ENSP00000367948.2:p.Gln3089=
ENST00000378680.6:c.75G>A	ENSP00000367951.2:p.Gln25=
ENST00000378702.8:c.75G>A	ENSP00000367974.4:p.Gln25=
ENST00000378707.7:c.1899G>A	ENSP00000367979.3:p.Gln633=
ENST00000378723.7:c.75G>A	ENSP00000367997.3:p.Gln25=
ENST00000469142.1:n.298G>A
ENST00000474231.5:c.1899G>A	ENSP00000417123.1:p.Gln633=
ENST00000541735.5:c.1899G>A	ENSP00000444119.1:p.Gln633=
ENST00000619831.4:c.9264G>A	ENSP00000479270.1:p.Gln3088=
ENST00000620040.4:c.9276G>A	ENSP00000478150.1:p.Gln3092=
NM_000109.3:c.9255G>A	NP_000100.2:p.Gln3085=
NM_004006.2:c.9279G>A , LRG_199t1:c.9279G>A	NP_003997.1:p.Gln3093=
NM_004009.3:c.9267G>A	NP_004000.1:p.Gln3089=
NM_004010.3:c.8910G>A	NP_004001.1:p.Gln2970=
NM_004011.3:c.5256G>A	NP_004002.2:p.Gln1752=
NM_004012.3:c.5247G>A	NP_004003.1:p.Gln1749=
NM_004013.2:c.1899G>A	NP_004004.1:p.Gln633=
NM_004014.2:c.1092G>A	NP_004005.1:p.Gln364=
NM_004015.2:c.75G>A	NP_004006.1:p.Gln25=
NM_004016.2:c.75G>A	NP_004007.1:p.Gln25=
NM_004017.2:c.75G>A	NP_004008.1:p.Gln25=
NM_004018.2:c.75G>A	NP_004009.1:p.Gln25=
NM_004019.2:c.75G>A	NP_004010.1:p.Gln25=
NM_004020.3:c.1899G>A	NP_004011.2:p.Gln633=
NM_004021.2:c.1899G>A	NP_004012.1:p.Gln633=
NM_004022.2:c.1899G>A	NP_004013.1:p.Gln633=
NM_004023.2:c.1899G>A	NP_004014.1:p.Gln633=
XM_006724468.2:c.9279G>A	XP_006724531.1:p.Gln3093=
XM_006724469.2:c.9255G>A	XP_006724532.1:p.Gln3085=
XM_006724470.2:c.9279G>A	XP_006724533.1:p.Gln3093=
XM_006724471.2:c.9279G>A	XP_006724534.1:p.Gln3093=
XM_006724472.2:c.9150G>A	XP_006724535.1:p.Gln3050=
XM_006724473.2:c.9141G>A	XP_006724536.1:p.Gln3047=
XM_006724474.2:c.9279G>A	XP_006724537.1:p.Gln3093=
XM_006724475.2:c.9279G>A	XP_006724538.1:p.Gln3093=
XM_011545467.1:c.9156G>A	XP_011543769.1:p.Gln3052=
XM_011545468.1:c.9279G>A	XP_011543770.1:p.Gln3093=
XM_006724469.3:c.9255G>A	XP_006724532.1:p.Gln3085=
XM_006724470.3:c.9279G>A	XP_006724533.1:p.Gln3093=
XM_006724474.3:c.9279G>A	XP_006724537.1:p.Gln3093=
XM_011545468.2:c.9279G>A	XP_011543770.1:p.Gln3093=
XM_017029328.1:c.9279G>A	XP_016884817.1:p.Gln3093=
XM_017029331.1:c.3453G>A	XP_016884820.1:p.Gln1151=
NM_000109.4:c.9255G>A	NP_000100.3:p.Gln3085=
NM_004006.3:c.9279G>A MANE Select	NP_003997.2:p.Gln3093=
NM_004011.4:c.5256G>A	NP_004002.3:p.Gln1752=
NM_004012.4:c.5247G>A	NP_004003.2:p.Gln1749=
NM_004015.3:c.75G>A	NP_004006.1:p.Gln25=
NM_004016.3:c.75G>A	NP_004007.1:p.Gln25=
NM_004017.3:c.75G>A	NP_004008.1:p.Gln25=
NM_004018.3:c.75G>A	NP_004009.1:p.Gln25=
NM_004019.3:c.75G>A	NP_004010.1:p.Gln25=
NM_004021.3:c.1899G>A	NP_004012.2:p.Gln633=
NM_004023.3:c.1899G>A	NP_004014.2:p.Gln633=
NM_004013.3:c.1899G>A	NP_004004.2:p.Gln633=
NM_004014.3:c.1092G>A	NP_004005.2:p.Gln364=
NM_004020.4:c.1899G>A	NP_004011.3:p.Gln633=
NM_004022.3:c.1899G>A	NP_004013.2:p.Gln633=