Canonical Allele Identifier: CA10604314

Gene: DMD

Linked Data

• ClinVar Variation Id: 282841
• ClinVar RCV Id: RCV000711447 ; RCV001071113
• dbSNP Id: rs886042495
• MyVariant Identifiers: chrX:g.31187636G>A (hg19) ; chrX:g.31169519G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31169519G>A , CM000685.2:g.31169519G>A	GRCh38
NC_000023.10:g.31187636G>A , CM000685.1:g.31187636G>A	GRCh37
NC_000023.9:g.31097557G>A	NCBI36
NG_012232.1:g.2175091C>T , LRG_199:g.2175091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.5284C>T	ENSP00000350765.3:p.Gln1762Ter
ENST00000680162.2:c.1168C>T	ENSP00000506634.2:p.Gln390Ter
ENST00000680768.2:c.1234C>T	ENSP00000506359.2:p.Gln412Ter
ENST00000681989.1:n.1275C>T
ENST00000682207.1:n.597C>T
ENST00000682238.1:c.2843+9150C>T	ENSP00000508124.1:n.2843+9150C>T
ENST00000682322.1:c.1168C>T	ENSP00000507690.1:p.Gln390Ter
ENST00000682600.1:c.1234C>T	ENSP00000507640.1:p.Gln412Ter
ENST00000682769.1:n.1069C>T
ENST00000683503.1:n.2292C>T
ENST00000683509.1:n.1955C>T
ENST00000683675.1:n.1576C>T
ENST00000683709.1:n.1956C>T
ENST00000683957.1:n.3930C>T
ENST00000683995.1:n.622C>T
ENST00000684072.1:n.706C>T
ENST00000684130.1:c.3058C>T	ENSP00000508037.1:p.Gln1020Ter
ENST00000684342.1:n.1521C>T
ENST00000684350.1:n.2292C>T
ENST00000343523.7:c.2332C>T	ENSP00000340057.4:p.Gln778Ter
ENST00000357033.9:c.10477C>T MANE Select	ENSP00000354923.3:p.Gln3493Ter
ENST00000619831.5:c.6445C>T	ENSP00000479270.2:p.Gln2149Ter
ENST00000620040.5:c.3058C>T	ENSP00000478150.2:p.Gln1020Ter
ENST00000679437.1:c.139C>T	ENSP00000506629.1:p.Gln47Ter
ENST00000679641.1:c.*225+9150C>T	ENSP00000506135.1:n.*225+9150C>T
ENST00000679706.1:c.180+9150C>T
ENST00000679850.1:n.5488C>T
ENST00000680162.1:c.1150C>T	ENSP00000506634.1:p.Gln384Ter
ENST00000680355.1:c.1019+9150C>T	ENSP00000506257.1:n.1019+9150C>T
ENST00000680557.1:c.603+34442C>T	ENSP00000505164.1:n.603+34442C>T
ENST00000680701.1:n.252C>T
ENST00000680768.1:c.1177C>T	ENSP00000506359.1:p.Gln393Ter
ENST00000680961.1:c.*440C>T	ENSP00000506386.1:n.*440C>T
ENST00000681026.1:c.139C>T	ENSP00000506689.1:p.Gln47Ter
ENST00000681153.1:c.1234C>T	ENSP00000505124.1:p.Gln412Ter
ENST00000343523.6:c.2290C>T	ENSP00000340057.3:p.Gln764Ter
ENST00000357033.8:c.10477C>T	ENSP00000354923.3:p.Gln3493Ter
ENST00000358062.6:c.3526C>T	ENSP00000350765.2:p.Gln1176Ter
ENST00000359836.5:c.3058C>T	ENSP00000352894.1:p.Gln1020Ter
ENST00000361471.8:c.1234C>T	ENSP00000354464.4:p.Gln412Ter
ENST00000378677.6:c.10465C>T	ENSP00000367948.2:p.Gln3489Ter
ENST00000378680.6:c.1019+9150C>T	ENSP00000367951.2:n.1019+9150C>T
ENST00000378702.8:c.1273C>T	ENSP00000367974.4:p.Gln425Ter
ENST00000378707.7:c.3097C>T	ENSP00000367979.3:p.Gln1033Ter
ENST00000378723.7:c.1273C>T	ENSP00000367997.3:p.Gln425Ter
ENST00000474231.5:c.3097C>T	ENSP00000417123.1:p.Gln1033Ter
ENST00000481143.2:n.38C>T
ENST00000541735.5:c.2843+9150C>T	ENSP00000444119.1:n.2843+9150C>T
ENST00000619831.4:c.10462C>T	ENSP00000479270.1:p.Gln3488Ter
ENST00000620040.4:c.10474C>T	ENSP00000478150.1:p.Gln3492Ter
NM_000109.3:c.10453C>T	NP_000100.2:p.Gln3485Ter
NM_004006.2:c.10477C>T , LRG_199t1:c.10477C>T	NP_003997.1:p.Gln3493Ter
NM_004009.3:c.10465C>T	NP_004000.1:p.Gln3489Ter
NM_004010.3:c.10108C>T	NP_004001.1:p.Gln3370Ter
NM_004011.3:c.6454C>T	NP_004002.2:p.Gln2152Ter
NM_004012.3:c.6445C>T	NP_004003.1:p.Gln2149Ter
NM_004013.2:c.3097C>T	NP_004004.1:p.Gln1033Ter
NM_004014.2:c.2290C>T	NP_004005.1:p.Gln764Ter
NM_004015.2:c.1273C>T	NP_004006.1:p.Gln425Ter
NM_004016.2:c.1273C>T	NP_004007.1:p.Gln425Ter
NM_004017.2:c.1234C>T	NP_004008.1:p.Gln412Ter
NM_004018.2:c.1234C>T	NP_004009.1:p.Gln412Ter
NM_004020.3:c.2843+9150C>T	NP_004011.2:n.2843+9150C>T
NM_004021.2:c.3097C>T	NP_004012.1:p.Gln1033Ter
NM_004022.2:c.3058C>T	NP_004013.1:p.Gln1020Ter
NM_004023.2:c.2843+9150C>T	NP_004014.1:n.2843+9150C>T
XM_006724468.2:c.10477C>T	XP_006724531.1:p.Gln3493Ter
XM_006724469.2:c.10453C>T	XP_006724532.1:p.Gln3485Ter
XM_006724470.2:c.10438C>T	XP_006724533.1:p.Gln3480Ter
XM_006724471.2:c.10372C>T	XP_006724534.1:p.Gln3458Ter
XM_006724472.2:c.10348C>T	XP_006724535.1:p.Gln3450Ter
XM_006724473.2:c.10339C>T	XP_006724536.1:p.Gln3447Ter
XM_006724474.2:c.10223+9150C>T	XP_006724537.1:n.10223+9150C>T
XM_006724475.2:c.10223+9150C>T	XP_006724538.1:n.10223+9150C>T
XM_011545467.1:c.10354C>T	XP_011543769.1:p.Gln3452Ter
XM_006724469.3:c.10453C>T	XP_006724532.1:p.Gln3485Ter
XM_006724470.3:c.10438C>T	XP_006724533.1:p.Gln3480Ter
XM_006724474.3:c.10223+9150C>T	XP_006724537.1:n.10223+9150C>T
XM_017029328.1:c.10438C>T	XP_016884817.1:p.Gln3480Ter
XM_017029331.1:c.4651C>T	XP_016884820.1:p.Gln1551Ter
NM_000109.4:c.10453C>T	NP_000100.3:p.Gln3485Ter
NM_004006.3:c.10477C>T MANE Select	NP_003997.2:p.Gln3493Ter
NM_004011.4:c.6454C>T	NP_004002.3:p.Gln2152Ter
NM_004012.4:c.6445C>T	NP_004003.2:p.Gln2149Ter
NM_004015.3:c.1273C>T	NP_004006.1:p.Gln425Ter
NM_004016.3:c.1273C>T	NP_004007.1:p.Gln425Ter
NM_004017.3:c.1234C>T	NP_004008.1:p.Gln412Ter
NM_004018.3:c.1234C>T	NP_004009.1:p.Gln412Ter
NM_004021.3:c.3097C>T	NP_004012.2:p.Gln1033Ter
NM_004023.3:c.2843+9150C>T	NP_004014.2:n.2843+9150C>T
NM_004013.3:c.3097C>T	NP_004004.2:p.Gln1033Ter
NM_004014.3:c.2290C>T	NP_004005.2:p.Gln764Ter
NM_004020.4:c.2843+9150C>T	NP_004011.3:n.2843+9150C>T
NM_004022.3:c.3058C>T	NP_004013.2:p.Gln1020Ter