Canonical Allele Identifier: CA412652745

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31196820C>G (hg19) ; chrX:g.31178703C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31178703C>G , CM000685.2:g.31178703C>G	GRCh38
NC_000023.10:g.31196820C>G , CM000685.1:g.31196820C>G	GRCh37
NC_000023.9:g.31106741C>G	NCBI36
NG_012232.1:g.2165907G>C , LRG_199:g.2165907G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.5035G>C	ENSP00000350765.3:p.Val1679Leu
ENST00000475732.3:n.2536G>C
ENST00000680162.2:c.985G>C	ENSP00000506634.2:p.Val329Leu
ENST00000680768.2:c.985G>C	ENSP00000506359.2:p.Val329Leu
ENST00000681989.1:n.987G>C
ENST00000682238.1:c.2809G>C	ENSP00000508124.1:p.Val937Leu
ENST00000682322.1:c.985G>C	ENSP00000507690.1:p.Val329Leu
ENST00000682600.1:c.985G>C	ENSP00000507640.1:p.Val329Leu
ENST00000682769.1:n.820G>C
ENST00000683509.1:n.1706G>C
ENST00000683675.1:n.1288G>C
ENST00000683709.1:n.1707G>C
ENST00000683957.1:n.3681G>C
ENST00000684130.1:c.2809G>C	ENSP00000508037.1:p.Val937Leu
ENST00000343523.7:c.2044G>C	ENSP00000340057.4:p.Val682Leu
ENST00000357033.9:c.10189G>C MANE Select	ENSP00000354923.3:p.Val3397Leu
ENST00000475732.2:n.555G>C
ENST00000619831.5:c.6157G>C	ENSP00000479270.2:p.Val2053Leu
ENST00000620040.5:c.2809G>C	ENSP00000478150.2:p.Val937Leu
ENST00000679641.1:c.*191G>C	ENSP00000506135.1:n.*191G>C
ENST00000679706.1:c.146G>C
ENST00000680162.1:c.862G>C	ENSP00000506634.1:p.Val288Leu
ENST00000680355.1:c.985G>C	ENSP00000506257.1:p.Val329Leu
ENST00000680557.1:c.603+25258G>C	ENSP00000505164.1:n.603+25258G>C
ENST00000680768.1:c.928G>C	ENSP00000506359.1:p.Val310Leu
ENST00000680961.1:c.*191G>C	ENSP00000506386.1:n.*191G>C
ENST00000681153.1:c.985G>C	ENSP00000505124.1:p.Val329Leu
ENST00000681654.1:n.1119G>C
ENST00000343523.6:c.2002G>C	ENSP00000340057.3:p.Val668Leu
ENST00000357033.8:c.10189G>C	ENSP00000354923.3:p.Val3397Leu
ENST00000358062.6:c.3277G>C	ENSP00000350765.2:p.Val1093Leu
ENST00000359836.5:c.2809G>C	ENSP00000352894.1:p.Val937Leu
ENST00000361471.8:c.985G>C	ENSP00000354464.4:p.Val329Leu
ENST00000378677.6:c.10177G>C	ENSP00000367948.2:p.Val3393Leu
ENST00000378680.6:c.985G>C	ENSP00000367951.2:p.Val329Leu
ENST00000378702.8:c.985G>C	ENSP00000367974.4:p.Val329Leu
ENST00000378705.3:c.559G>C	ENSP00000367977.3:p.Val187Leu
ENST00000378707.7:c.2809G>C	ENSP00000367979.3:p.Val937Leu
ENST00000378723.7:c.985G>C	ENSP00000367997.3:p.Val329Leu
ENST00000474231.5:c.2809G>C	ENSP00000417123.1:p.Val937Leu
ENST00000475732.1:n.405G>C
ENST00000541735.5:c.2809G>C	ENSP00000444119.1:p.Val937Leu
ENST00000619831.4:c.10174G>C	ENSP00000479270.1:p.Val3392Leu
ENST00000620040.4:c.10186G>C	ENSP00000478150.1:p.Val3396Leu
NM_000109.3:c.10165G>C	NP_000100.2:p.Val3389Leu
NM_004006.2:c.10189G>C , LRG_199t1:c.10189G>C	NP_003997.1:p.Val3397Leu
NM_004009.3:c.10177G>C	NP_004000.1:p.Val3393Leu
NM_004010.3:c.9820G>C	NP_004001.1:p.Val3274Leu
NM_004011.3:c.6166G>C	NP_004002.2:p.Val2056Leu
NM_004012.3:c.6157G>C	NP_004003.1:p.Val2053Leu
NM_004013.2:c.2809G>C	NP_004004.1:p.Val937Leu
NM_004014.2:c.2002G>C	NP_004005.1:p.Val668Leu
NM_004015.2:c.985G>C	NP_004006.1:p.Val329Leu
NM_004016.2:c.985G>C	NP_004007.1:p.Val329Leu
NM_004017.2:c.985G>C	NP_004008.1:p.Val329Leu
NM_004018.2:c.985G>C	NP_004009.1:p.Val329Leu
NM_004019.2:c.985G>C	NP_004010.1:p.Val329Leu
NM_004020.3:c.2809G>C	NP_004011.2:p.Val937Leu
NM_004021.2:c.2809G>C	NP_004012.1:p.Val937Leu
NM_004022.2:c.2809G>C	NP_004013.1:p.Val937Leu
NM_004023.2:c.2809G>C	NP_004014.1:p.Val937Leu
XM_006724468.2:c.10189G>C	XP_006724531.1:p.Val3397Leu
XM_006724469.2:c.10165G>C	XP_006724532.1:p.Val3389Leu
XM_006724470.2:c.10189G>C	XP_006724533.1:p.Val3397Leu
XM_006724471.2:c.10189G>C	XP_006724534.1:p.Val3397Leu
XM_006724472.2:c.10060G>C	XP_006724535.1:p.Val3354Leu
XM_006724473.2:c.10051G>C	XP_006724536.1:p.Val3351Leu
XM_006724474.2:c.10189G>C	XP_006724537.1:p.Val3397Leu
XM_006724475.2:c.10189G>C	XP_006724538.1:p.Val3397Leu
XM_011545467.1:c.10066G>C	XP_011543769.1:p.Val3356Leu
XM_006724469.3:c.10165G>C	XP_006724532.1:p.Val3389Leu
XM_006724470.3:c.10189G>C	XP_006724533.1:p.Val3397Leu
XM_006724474.3:c.10189G>C	XP_006724537.1:p.Val3397Leu
XM_017029328.1:c.10189G>C	XP_016884817.1:p.Val3397Leu
XM_017029331.1:c.4363G>C	XP_016884820.1:p.Val1455Leu
NM_000109.4:c.10165G>C	NP_000100.3:p.Val3389Leu
NM_004006.3:c.10189G>C MANE Select	NP_003997.2:p.Val3397Leu
NM_004011.4:c.6166G>C	NP_004002.3:p.Val2056Leu
NM_004012.4:c.6157G>C	NP_004003.2:p.Val2053Leu
NM_004015.3:c.985G>C	NP_004006.1:p.Val329Leu
NM_004016.3:c.985G>C	NP_004007.1:p.Val329Leu
NM_004017.3:c.985G>C	NP_004008.1:p.Val329Leu
NM_004018.3:c.985G>C	NP_004009.1:p.Val329Leu
NM_004019.3:c.985G>C	NP_004010.1:p.Val329Leu
NM_004021.3:c.2809G>C	NP_004012.2:p.Val937Leu
NM_004023.3:c.2809G>C	NP_004014.2:p.Val937Leu
NM_004013.3:c.2809G>C	NP_004004.2:p.Val937Leu
NM_004014.3:c.2002G>C	NP_004005.2:p.Val668Leu
NM_004020.4:c.2809G>C	NP_004011.3:p.Val937Leu
NM_004022.3:c.2809G>C	NP_004013.2:p.Val937Leu