Canonical Allele Identifier: CA266862

Gene: DMD

Linked Data

• ClinVar Variation Id: 1453123
• ClinVar RCV Id: RCV002000139
• dbSNP Id: rs398123833
• MyVariant Identifiers: chrX:g.31196817G>A (hg19) ; chrX:g.31178700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31178700G>A , CM000685.2:g.31178700G>A	GRCh38
NC_000023.10:g.31196817G>A , CM000685.1:g.31196817G>A	GRCh37
NC_000023.9:g.31106738G>A	NCBI36
NG_012232.1:g.2165910C>T , LRG_199:g.2165910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.5038C>T	ENSP00000350765.3:p.Gln1680Ter
ENST00000475732.3:n.2539C>T
ENST00000680162.2:c.988C>T	ENSP00000506634.2:p.Gln330Ter
ENST00000680768.2:c.988C>T	ENSP00000506359.2:p.Gln330Ter
ENST00000681989.1:n.990C>T
ENST00000682238.1:c.2812C>T	ENSP00000508124.1:p.Gln938Ter
ENST00000682322.1:c.988C>T	ENSP00000507690.1:p.Gln330Ter
ENST00000682600.1:c.988C>T	ENSP00000507640.1:p.Gln330Ter
ENST00000682769.1:n.823C>T
ENST00000683509.1:n.1709C>T
ENST00000683675.1:n.1291C>T
ENST00000683709.1:n.1710C>T
ENST00000683957.1:n.3684C>T
ENST00000684130.1:c.2812C>T	ENSP00000508037.1:p.Gln938Ter
ENST00000343523.7:c.2047C>T	ENSP00000340057.4:p.Gln683Ter
ENST00000357033.9:c.10192C>T MANE Select	ENSP00000354923.3:p.Gln3398Ter
ENST00000475732.2:n.558C>T
ENST00000619831.5:c.6160C>T	ENSP00000479270.2:p.Gln2054Ter
ENST00000620040.5:c.2812C>T	ENSP00000478150.2:p.Gln938Ter
ENST00000679641.1:c.*194C>T	ENSP00000506135.1:n.*194C>T
ENST00000679706.1:c.149C>T
ENST00000680162.1:c.865C>T	ENSP00000506634.1:p.Gln289Ter
ENST00000680355.1:c.988C>T	ENSP00000506257.1:p.Gln330Ter
ENST00000680557.1:c.603+25261C>T	ENSP00000505164.1:n.603+25261C>T
ENST00000680768.1:c.931C>T	ENSP00000506359.1:p.Gln311Ter
ENST00000680961.1:c.*194C>T	ENSP00000506386.1:n.*194C>T
ENST00000681153.1:c.988C>T	ENSP00000505124.1:p.Gln330Ter
ENST00000681654.1:n.1122C>T
ENST00000343523.6:c.2005C>T	ENSP00000340057.3:p.Gln669Ter
ENST00000357033.8:c.10192C>T	ENSP00000354923.3:p.Gln3398Ter
ENST00000358062.6:c.3280C>T	ENSP00000350765.2:p.Gln1094Ter
ENST00000359836.5:c.2812C>T	ENSP00000352894.1:p.Gln938Ter
ENST00000361471.8:c.988C>T	ENSP00000354464.4:p.Gln330Ter
ENST00000378677.6:c.10180C>T	ENSP00000367948.2:p.Gln3394Ter
ENST00000378680.6:c.988C>T	ENSP00000367951.2:p.Gln330Ter
ENST00000378702.8:c.988C>T	ENSP00000367974.4:p.Gln330Ter
ENST00000378705.3:c.562C>T	ENSP00000367977.3:p.Gln188Ter
ENST00000378707.7:c.2812C>T	ENSP00000367979.3:p.Gln938Ter
ENST00000378723.7:c.988C>T	ENSP00000367997.3:p.Gln330Ter
ENST00000474231.5:c.2812C>T	ENSP00000417123.1:p.Gln938Ter
ENST00000475732.1:n.408C>T
ENST00000541735.5:c.2812C>T	ENSP00000444119.1:p.Gln938Ter
ENST00000619831.4:c.10177C>T	ENSP00000479270.1:p.Gln3393Ter
ENST00000620040.4:c.10189C>T	ENSP00000478150.1:p.Gln3397Ter
NM_000109.3:c.10168C>T	NP_000100.2:p.Gln3390Ter
NM_004006.2:c.10192C>T , LRG_199t1:c.10192C>T	NP_003997.1:p.Gln3398Ter
NM_004009.3:c.10180C>T	NP_004000.1:p.Gln3394Ter
NM_004010.3:c.9823C>T	NP_004001.1:p.Gln3275Ter
NM_004011.3:c.6169C>T	NP_004002.2:p.Gln2057Ter
NM_004012.3:c.6160C>T	NP_004003.1:p.Gln2054Ter
NM_004013.2:c.2812C>T	NP_004004.1:p.Gln938Ter
NM_004014.2:c.2005C>T	NP_004005.1:p.Gln669Ter
NM_004015.2:c.988C>T	NP_004006.1:p.Gln330Ter
NM_004016.2:c.988C>T	NP_004007.1:p.Gln330Ter
NM_004017.2:c.988C>T	NP_004008.1:p.Gln330Ter
NM_004018.2:c.988C>T	NP_004009.1:p.Gln330Ter
NM_004019.2:c.988C>T	NP_004010.1:p.Gln330Ter
NM_004020.3:c.2812C>T	NP_004011.2:p.Gln938Ter
NM_004021.2:c.2812C>T	NP_004012.1:p.Gln938Ter
NM_004022.2:c.2812C>T	NP_004013.1:p.Gln938Ter
NM_004023.2:c.2812C>T	NP_004014.1:p.Gln938Ter
XM_006724468.2:c.10192C>T	XP_006724531.1:p.Gln3398Ter
XM_006724469.2:c.10168C>T	XP_006724532.1:p.Gln3390Ter
XM_006724470.2:c.10192C>T	XP_006724533.1:p.Gln3398Ter
XM_006724471.2:c.10192C>T	XP_006724534.1:p.Gln3398Ter
XM_006724472.2:c.10063C>T	XP_006724535.1:p.Gln3355Ter
XM_006724473.2:c.10054C>T	XP_006724536.1:p.Gln3352Ter
XM_006724474.2:c.10192C>T	XP_006724537.1:p.Gln3398Ter
XM_006724475.2:c.10192C>T	XP_006724538.1:p.Gln3398Ter
XM_011545467.1:c.10069C>T	XP_011543769.1:p.Gln3357Ter
XM_006724469.3:c.10168C>T	XP_006724532.1:p.Gln3390Ter
XM_006724470.3:c.10192C>T	XP_006724533.1:p.Gln3398Ter
XM_006724474.3:c.10192C>T	XP_006724537.1:p.Gln3398Ter
XM_017029328.1:c.10192C>T	XP_016884817.1:p.Gln3398Ter
XM_017029331.1:c.4366C>T	XP_016884820.1:p.Gln1456Ter
NM_000109.4:c.10168C>T	NP_000100.3:p.Gln3390Ter
NM_004006.3:c.10192C>T MANE Select	NP_003997.2:p.Gln3398Ter
NM_004011.4:c.6169C>T	NP_004002.3:p.Gln2057Ter
NM_004012.4:c.6160C>T	NP_004003.2:p.Gln2054Ter
NM_004015.3:c.988C>T	NP_004006.1:p.Gln330Ter
NM_004016.3:c.988C>T	NP_004007.1:p.Gln330Ter
NM_004017.3:c.988C>T	NP_004008.1:p.Gln330Ter
NM_004018.3:c.988C>T	NP_004009.1:p.Gln330Ter
NM_004019.3:c.988C>T	NP_004010.1:p.Gln330Ter
NM_004021.3:c.2812C>T	NP_004012.2:p.Gln938Ter
NM_004023.3:c.2812C>T	NP_004014.2:p.Gln938Ter
NM_004013.3:c.2812C>T	NP_004004.2:p.Gln938Ter
NM_004014.3:c.2005C>T	NP_004005.2:p.Gln669Ter
NM_004020.4:c.2812C>T	NP_004011.3:p.Gln938Ter
NM_004022.3:c.2812C>T	NP_004013.2:p.Gln938Ter