Canonical Allele Identifier: CA412652485

Gene: DMD

Linked Data

• gnomAD v4: X-31260981-T-G
• MyVariant Identifiers: chrX:g.31279098T>G (hg19) ; chrX:g.31260981T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31260981T>G , CM000685.2:g.31260981T>G	GRCh38
NC_000023.10:g.31279098T>G , CM000685.1:g.31279098T>G	GRCh37
NC_000023.9:g.31189019T>G	NCBI36
NG_012232.1:g.2083629A>C , LRG_199:g.2083629A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4106A>C	ENSP00000350765.3:p.Lys1369Thr
ENST00000680162.2:c.56A>C	ENSP00000506634.2:p.Lys19Thr
ENST00000680768.2:c.56A>C	ENSP00000506359.2:p.Lys19Thr
ENST00000682238.1:c.1880A>C	ENSP00000508124.1:p.Lys627Thr
ENST00000682322.1:c.56A>C	ENSP00000507690.1:p.Lys19Thr
ENST00000682600.1:c.56A>C	ENSP00000507640.1:p.Lys19Thr
ENST00000683509.1:n.777A>C
ENST00000683675.1:n.359A>C
ENST00000683709.1:n.778A>C
ENST00000683957.1:n.2752A>C
ENST00000684130.1:c.1880A>C	ENSP00000508037.1:p.Lys627Thr
ENST00000343523.7:c.1115A>C	ENSP00000340057.4:p.Lys372Thr
ENST00000357033.9:c.9260A>C MANE Select	ENSP00000354923.3:p.Lys3087Thr
ENST00000619831.5:c.5228A>C	ENSP00000479270.2:p.Lys1743Thr
ENST00000620040.5:c.1880A>C	ENSP00000478150.2:p.Lys627Thr
ENST00000679641.1:c.56A>C	ENSP00000506135.1:p.Lys19Thr
ENST00000680216.1:c.36A>C
ENST00000680355.1:c.56A>C	ENSP00000506257.1:p.Lys19Thr
ENST00000680557.1:c.56A>C	ENSP00000505164.1:p.Lys19Thr
ENST00000680768.1:c.-2A>C	ENSP00000506359.1:n.-2A>C
ENST00000680961.1:c.1880A>C	ENSP00000506386.1:p.Lys627Thr
ENST00000681153.1:c.56A>C	ENSP00000505124.1:p.Lys19Thr
ENST00000681334.1:c.56A>C	ENSP00000506066.1:p.Lys19Thr
ENST00000681646.1:n.2921A>C
ENST00000681654.1:n.190A>C
ENST00000681870.1:c.56A>C	ENSP00000506709.1:p.Lys19Thr
ENST00000343523.6:c.1073A>C	ENSP00000340057.3:p.Lys358Thr
ENST00000357033.8:c.9260A>C	ENSP00000354923.3:p.Lys3087Thr
ENST00000358062.6:c.2348A>C	ENSP00000350765.2:p.Lys783Thr
ENST00000359836.5:c.1880A>C	ENSP00000352894.1:p.Lys627Thr
ENST00000361471.8:c.56A>C	ENSP00000354464.4:p.Lys19Thr
ENST00000378677.6:c.9248A>C	ENSP00000367948.2:p.Lys3083Thr
ENST00000378680.6:c.56A>C	ENSP00000367951.2:p.Lys19Thr
ENST00000378702.8:c.56A>C	ENSP00000367974.4:p.Lys19Thr
ENST00000378707.7:c.1880A>C	ENSP00000367979.3:p.Lys627Thr
ENST00000378723.7:c.56A>C	ENSP00000367997.3:p.Lys19Thr
ENST00000469142.1:n.279A>C
ENST00000474231.5:c.1880A>C	ENSP00000417123.1:p.Lys627Thr
ENST00000541735.5:c.1880A>C	ENSP00000444119.1:p.Lys627Thr
ENST00000619831.4:c.9245A>C	ENSP00000479270.1:p.Lys3082Thr
ENST00000620040.4:c.9257A>C	ENSP00000478150.1:p.Lys3086Thr
NM_000109.3:c.9236A>C	NP_000100.2:p.Lys3079Thr
NM_004006.2:c.9260A>C , LRG_199t1:c.9260A>C	NP_003997.1:p.Lys3087Thr
NM_004009.3:c.9248A>C	NP_004000.1:p.Lys3083Thr
NM_004010.3:c.8891A>C	NP_004001.1:p.Lys2964Thr
NM_004011.3:c.5237A>C	NP_004002.2:p.Lys1746Thr
NM_004012.3:c.5228A>C	NP_004003.1:p.Lys1743Thr
NM_004013.2:c.1880A>C	NP_004004.1:p.Lys627Thr
NM_004014.2:c.1073A>C	NP_004005.1:p.Lys358Thr
NM_004015.2:c.56A>C	NP_004006.1:p.Lys19Thr
NM_004016.2:c.56A>C	NP_004007.1:p.Lys19Thr
NM_004017.2:c.56A>C	NP_004008.1:p.Lys19Thr
NM_004018.2:c.56A>C	NP_004009.1:p.Lys19Thr
NM_004019.2:c.56A>C	NP_004010.1:p.Lys19Thr
NM_004020.3:c.1880A>C	NP_004011.2:p.Lys627Thr
NM_004021.2:c.1880A>C	NP_004012.1:p.Lys627Thr
NM_004022.2:c.1880A>C	NP_004013.1:p.Lys627Thr
NM_004023.2:c.1880A>C	NP_004014.1:p.Lys627Thr
XM_006724468.2:c.9260A>C	XP_006724531.1:p.Lys3087Thr
XM_006724469.2:c.9236A>C	XP_006724532.1:p.Lys3079Thr
XM_006724470.2:c.9260A>C	XP_006724533.1:p.Lys3087Thr
XM_006724471.2:c.9260A>C	XP_006724534.1:p.Lys3087Thr
XM_006724472.2:c.9131A>C	XP_006724535.1:p.Lys3044Thr
XM_006724473.2:c.9122A>C	XP_006724536.1:p.Lys3041Thr
XM_006724474.2:c.9260A>C	XP_006724537.1:p.Lys3087Thr
XM_006724475.2:c.9260A>C	XP_006724538.1:p.Lys3087Thr
XM_011545467.1:c.9137A>C	XP_011543769.1:p.Lys3046Thr
XM_011545468.1:c.9260A>C	XP_011543770.1:p.Lys3087Thr
XM_006724469.3:c.9236A>C	XP_006724532.1:p.Lys3079Thr
XM_006724470.3:c.9260A>C	XP_006724533.1:p.Lys3087Thr
XM_006724474.3:c.9260A>C	XP_006724537.1:p.Lys3087Thr
XM_011545468.2:c.9260A>C	XP_011543770.1:p.Lys3087Thr
XM_017029328.1:c.9260A>C	XP_016884817.1:p.Lys3087Thr
XM_017029331.1:c.3434A>C	XP_016884820.1:p.Lys1145Thr
NM_000109.4:c.9236A>C	NP_000100.3:p.Lys3079Thr
NM_004006.3:c.9260A>C MANE Select	NP_003997.2:p.Lys3087Thr
NM_004011.4:c.5237A>C	NP_004002.3:p.Lys1746Thr
NM_004012.4:c.5228A>C	NP_004003.2:p.Lys1743Thr
NM_004015.3:c.56A>C	NP_004006.1:p.Lys19Thr
NM_004016.3:c.56A>C	NP_004007.1:p.Lys19Thr
NM_004017.3:c.56A>C	NP_004008.1:p.Lys19Thr
NM_004018.3:c.56A>C	NP_004009.1:p.Lys19Thr
NM_004019.3:c.56A>C	NP_004010.1:p.Lys19Thr
NM_004021.3:c.1880A>C	NP_004012.2:p.Lys627Thr
NM_004023.3:c.1880A>C	NP_004014.2:p.Lys627Thr
NM_004013.3:c.1880A>C	NP_004004.2:p.Lys627Thr
NM_004014.3:c.1073A>C	NP_004005.2:p.Lys358Thr
NM_004020.4:c.1880A>C	NP_004011.3:p.Lys627Thr
NM_004022.3:c.1880A>C	NP_004013.2:p.Lys627Thr