Canonical Allele Identifier: CA412655123

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31462642G>T (hg19) ; chrX:g.31444525G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444525G>T , CM000685.2:g.31444525G>T	GRCh38
NC_000023.10:g.31462642G>T , CM000685.1:g.31462642G>T	GRCh37
NC_000023.9:g.31372563G>T	NCBI36
NG_012232.1:g.1900085C>A , LRG_199:g.1900085C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.3886C>A	ENSP00000350765.3:p.Leu1296Ile
ENST00000682238.1:c.1660C>A	ENSP00000508124.1:p.Leu554Ile
ENST00000683450.1:n.2505C>A
ENST00000683957.1:n.2532C>A
ENST00000684130.1:c.1660C>A	ENSP00000508037.1:p.Leu554Ile
ENST00000343523.7:c.895C>A	ENSP00000340057.4:p.Leu299Ile
ENST00000357033.9:c.9040C>A MANE Select	ENSP00000354923.3:p.Leu3014Ile
ENST00000619831.5:c.5008C>A	ENSP00000479270.2:p.Leu1670Ile
ENST00000620040.5:c.1660C>A	ENSP00000478150.2:p.Leu554Ile
ENST00000680961.1:c.1660C>A	ENSP00000506386.1:p.Leu554Ile
ENST00000681646.1:n.2701C>A
ENST00000343523.6:c.853C>A	ENSP00000340057.3:p.Leu285Ile
ENST00000357033.8:c.9040C>A	ENSP00000354923.3:p.Leu3014Ile
ENST00000358062.6:c.2128C>A	ENSP00000350765.2:p.Leu710Ile
ENST00000359836.5:c.1660C>A	ENSP00000352894.1:p.Leu554Ile
ENST00000378677.6:c.9028C>A	ENSP00000367948.2:p.Leu3010Ile
ENST00000378707.7:c.1660C>A	ENSP00000367979.3:p.Leu554Ile
ENST00000474231.5:c.1660C>A	ENSP00000417123.1:p.Leu554Ile
ENST00000541735.5:c.1660C>A	ENSP00000444119.1:p.Leu554Ile
ENST00000619831.4:c.9025C>A	ENSP00000479270.1:p.Leu3009Ile
ENST00000620040.4:c.9037C>A	ENSP00000478150.1:p.Leu3013Ile
NM_000109.3:c.9016C>A	NP_000100.2:p.Leu3006Ile
NM_004006.2:c.9040C>A , LRG_199t1:c.9040C>A	NP_003997.1:p.Leu3014Ile
NM_004009.3:c.9028C>A	NP_004000.1:p.Leu3010Ile
NM_004010.3:c.8671C>A	NP_004001.1:p.Leu2891Ile
NM_004011.3:c.5017C>A	NP_004002.2:p.Leu1673Ile
NM_004012.3:c.5008C>A	NP_004003.1:p.Leu1670Ile
NM_004013.2:c.1660C>A	NP_004004.1:p.Leu554Ile
NM_004014.2:c.853C>A	NP_004005.1:p.Leu285Ile
NM_004020.3:c.1660C>A	NP_004011.2:p.Leu554Ile
NM_004021.2:c.1660C>A	NP_004012.1:p.Leu554Ile
NM_004022.2:c.1660C>A	NP_004013.1:p.Leu554Ile
NM_004023.2:c.1660C>A	NP_004014.1:p.Leu554Ile
XM_006724468.2:c.9040C>A	XP_006724531.1:p.Leu3014Ile
XM_006724469.2:c.9016C>A	XP_006724532.1:p.Leu3006Ile
XM_006724470.2:c.9040C>A	XP_006724533.1:p.Leu3014Ile
XM_006724471.2:c.9040C>A	XP_006724534.1:p.Leu3014Ile
XM_006724472.2:c.8911C>A	XP_006724535.1:p.Leu2971Ile
XM_006724473.2:c.8902C>A	XP_006724536.1:p.Leu2968Ile
XM_006724474.2:c.9040C>A	XP_006724537.1:p.Leu3014Ile
XM_006724475.2:c.9040C>A	XP_006724538.1:p.Leu3014Ile
XM_011545467.1:c.8917C>A	XP_011543769.1:p.Leu2973Ile
XM_011545468.1:c.9040C>A	XP_011543770.1:p.Leu3014Ile
XM_006724469.3:c.9016C>A	XP_006724532.1:p.Leu3006Ile
XM_006724470.3:c.9040C>A	XP_006724533.1:p.Leu3014Ile
XM_006724474.3:c.9040C>A	XP_006724537.1:p.Leu3014Ile
XM_011545468.2:c.9040C>A	XP_011543770.1:p.Leu3014Ile
XM_017029328.1:c.9040C>A	XP_016884817.1:p.Leu3014Ile
XM_017029331.1:c.3214C>A	XP_016884820.1:p.Leu1072Ile
NM_000109.4:c.9016C>A	NP_000100.3:p.Leu3006Ile
NM_004006.3:c.9040C>A MANE Select	NP_003997.2:p.Leu3014Ile
NM_004011.4:c.5017C>A	NP_004002.3:p.Leu1673Ile
NM_004012.4:c.5008C>A	NP_004003.2:p.Leu1670Ile
NM_004021.3:c.1660C>A	NP_004012.2:p.Leu554Ile
NM_004023.3:c.1660C>A	NP_004014.2:p.Leu554Ile
NM_004013.3:c.1660C>A	NP_004004.2:p.Leu554Ile
NM_004014.3:c.853C>A	NP_004005.2:p.Leu285Ile
NM_004020.4:c.1660C>A	NP_004011.3:p.Leu554Ile
NM_004022.3:c.1660C>A	NP_004013.2:p.Leu554Ile