Canonical Allele Identifier: CA515857838

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31196905A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31178788A>G , CM000685.2:g.31178788A>G	GRCh38
NC_000023.10:g.31196905A>G , CM000685.1:g.31196905A>G	GRCh37
NC_000023.9:g.31106826A>G	NCBI36
NG_012232.1:g.2165822T>C , LRG_199:g.2165822T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.4950T>C	ENSP00000350765.3:p.Asp1650=
ENST00000475732.3:n.2451T>C
ENST00000680162.2:c.900T>C	ENSP00000506634.2:p.Asp300=
ENST00000680768.2:c.900T>C	ENSP00000506359.2:p.Asp300=
ENST00000681989.1:n.902T>C
ENST00000682238.1:c.2724T>C	ENSP00000508124.1:p.Asp908=
ENST00000682322.1:c.900T>C	ENSP00000507690.1:p.Asp300=
ENST00000682600.1:c.900T>C	ENSP00000507640.1:p.Asp300=
ENST00000682769.1:n.735T>C
ENST00000683509.1:n.1621T>C
ENST00000683675.1:n.1203T>C
ENST00000683709.1:n.1622T>C
ENST00000683957.1:n.3596T>C
ENST00000684130.1:c.2724T>C	ENSP00000508037.1:p.Asp908=
ENST00000343523.7:c.1959T>C	ENSP00000340057.4:p.Asp653=
ENST00000357033.9:c.10104T>C MANE Select	ENSP00000354923.3:p.Asp3368=
ENST00000475732.2:n.470T>C
ENST00000619831.5:c.6072T>C	ENSP00000479270.2:p.Asp2024=
ENST00000620040.5:c.2724T>C	ENSP00000478150.2:p.Asp908=
ENST00000679641.1:c.*106T>C	ENSP00000506135.1:n.*106T>C
ENST00000679706.1:c.61T>C
ENST00000680162.1:c.777T>C	ENSP00000506634.1:p.Asp259=
ENST00000680355.1:c.900T>C	ENSP00000506257.1:p.Asp300=
ENST00000680557.1:c.603+25173T>C	ENSP00000505164.1:n.603+25173T>C
ENST00000680768.1:c.843T>C	ENSP00000506359.1:p.Asp281=
ENST00000680961.1:c.*106T>C	ENSP00000506386.1:n.*106T>C
ENST00000681153.1:c.900T>C	ENSP00000505124.1:p.Asp300=
ENST00000681654.1:n.1034T>C
ENST00000343523.6:c.1917T>C	ENSP00000340057.3:p.Asp639=
ENST00000357033.8:c.10104T>C	ENSP00000354923.3:p.Asp3368=
ENST00000358062.6:c.3192T>C	ENSP00000350765.2:p.Asp1064=
ENST00000359836.5:c.2724T>C	ENSP00000352894.1:p.Asp908=
ENST00000361471.8:c.900T>C	ENSP00000354464.4:p.Asp300=
ENST00000378677.6:c.10092T>C	ENSP00000367948.2:p.Asp3364=
ENST00000378680.6:c.900T>C	ENSP00000367951.2:p.Asp300=
ENST00000378702.8:c.900T>C	ENSP00000367974.4:p.Asp300=
ENST00000378705.3:c.474T>C	ENSP00000367977.3:p.Asp158=
ENST00000378707.7:c.2724T>C	ENSP00000367979.3:p.Asp908=
ENST00000378723.7:c.900T>C	ENSP00000367997.3:p.Asp300=
ENST00000474231.5:c.2724T>C	ENSP00000417123.1:p.Asp908=
ENST00000475732.1:n.320T>C
ENST00000541735.5:c.2724T>C	ENSP00000444119.1:p.Asp908=
ENST00000619831.4:c.10089T>C	ENSP00000479270.1:p.Asp3363=
ENST00000620040.4:c.10101T>C	ENSP00000478150.1:p.Asp3367=
NM_000109.3:c.10080T>C	NP_000100.2:p.Asp3360=
NM_004006.2:c.10104T>C , LRG_199t1:c.10104T>C	NP_003997.1:p.Asp3368=
NM_004009.3:c.10092T>C	NP_004000.1:p.Asp3364=
NM_004010.3:c.9735T>C	NP_004001.1:p.Asp3245=
NM_004011.3:c.6081T>C	NP_004002.2:p.Asp2027=
NM_004012.3:c.6072T>C	NP_004003.1:p.Asp2024=
NM_004013.2:c.2724T>C	NP_004004.1:p.Asp908=
NM_004014.2:c.1917T>C	NP_004005.1:p.Asp639=
NM_004015.2:c.900T>C	NP_004006.1:p.Asp300=
NM_004016.2:c.900T>C	NP_004007.1:p.Asp300=
NM_004017.2:c.900T>C	NP_004008.1:p.Asp300=
NM_004018.2:c.900T>C	NP_004009.1:p.Asp300=
NM_004019.2:c.900T>C	NP_004010.1:p.Asp300=
NM_004020.3:c.2724T>C	NP_004011.2:p.Asp908=
NM_004021.2:c.2724T>C	NP_004012.1:p.Asp908=
NM_004022.2:c.2724T>C	NP_004013.1:p.Asp908=
NM_004023.2:c.2724T>C	NP_004014.1:p.Asp908=
XM_006724468.2:c.10104T>C	XP_006724531.1:p.Asp3368=
XM_006724469.2:c.10080T>C	XP_006724532.1:p.Asp3360=
XM_006724470.2:c.10104T>C	XP_006724533.1:p.Asp3368=
XM_006724471.2:c.10104T>C	XP_006724534.1:p.Asp3368=
XM_006724472.2:c.9975T>C	XP_006724535.1:p.Asp3325=
XM_006724473.2:c.9966T>C	XP_006724536.1:p.Asp3322=
XM_006724474.2:c.10104T>C	XP_006724537.1:p.Asp3368=
XM_006724475.2:c.10104T>C	XP_006724538.1:p.Asp3368=
XM_011545467.1:c.9981T>C	XP_011543769.1:p.Asp3327=
XM_006724469.3:c.10080T>C	XP_006724532.1:p.Asp3360=
XM_006724470.3:c.10104T>C	XP_006724533.1:p.Asp3368=
XM_006724474.3:c.10104T>C	XP_006724537.1:p.Asp3368=
XM_017029328.1:c.10104T>C	XP_016884817.1:p.Asp3368=
XM_017029331.1:c.4278T>C	XP_016884820.1:p.Asp1426=
NM_000109.4:c.10080T>C	NP_000100.3:p.Asp3360=
NM_004006.3:c.10104T>C MANE Select	NP_003997.2:p.Asp3368=
NM_004011.4:c.6081T>C	NP_004002.3:p.Asp2027=
NM_004012.4:c.6072T>C	NP_004003.2:p.Asp2024=
NM_004015.3:c.900T>C	NP_004006.1:p.Asp300=
NM_004016.3:c.900T>C	NP_004007.1:p.Asp300=
NM_004017.3:c.900T>C	NP_004008.1:p.Asp300=
NM_004018.3:c.900T>C	NP_004009.1:p.Asp300=
NM_004019.3:c.900T>C	NP_004010.1:p.Asp300=
NM_004021.3:c.2724T>C	NP_004012.2:p.Asp908=
NM_004023.3:c.2724T>C	NP_004014.2:p.Asp908=
NM_004013.3:c.2724T>C	NP_004004.2:p.Asp908=
NM_004014.3:c.1917T>C	NP_004005.2:p.Asp639=
NM_004020.4:c.2724T>C	NP_004011.3:p.Asp908=
NM_004022.3:c.2724T>C	NP_004013.2:p.Asp908=