Canonical Allele Identifier: CA515858174

Gene: DMD

Linked Data

• gnomAD v4: X-31444484-C-T
• MyVariant Identifiers: chrX:g.31462601C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444484C>T , CM000685.2:g.31444484C>T	GRCh38
NC_000023.10:g.31462601C>T , CM000685.1:g.31462601C>T	GRCh37
NC_000023.9:g.31372522C>T	NCBI36
NG_012232.1:g.1900126G>A , LRG_199:g.1900126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3927G>A	ENSP00000350765.3:p.Leu1309=
ENST00000682238.1:c.1701G>A	ENSP00000508124.1:p.Leu567=
ENST00000683450.1:n.2546G>A
ENST00000683957.1:n.2573G>A
ENST00000684130.1:c.1701G>A	ENSP00000508037.1:p.Leu567=
ENST00000343523.7:c.936G>A	ENSP00000340057.4:p.Leu312=
ENST00000357033.9:c.9081G>A MANE Select	ENSP00000354923.3:p.Leu3027=
ENST00000619831.5:c.5049G>A	ENSP00000479270.2:p.Leu1683=
ENST00000620040.5:c.1701G>A	ENSP00000478150.2:p.Leu567=
ENST00000680961.1:c.1701G>A	ENSP00000506386.1:p.Leu567=
ENST00000681646.1:n.2742G>A
ENST00000343523.6:c.894G>A	ENSP00000340057.3:p.Leu298=
ENST00000357033.8:c.9081G>A	ENSP00000354923.3:p.Leu3027=
ENST00000358062.6:c.2169G>A	ENSP00000350765.2:p.Leu723=
ENST00000359836.5:c.1701G>A	ENSP00000352894.1:p.Leu567=
ENST00000378677.6:c.9069G>A	ENSP00000367948.2:p.Leu3023=
ENST00000378707.7:c.1701G>A	ENSP00000367979.3:p.Leu567=
ENST00000474231.5:c.1701G>A	ENSP00000417123.1:p.Leu567=
ENST00000541735.5:c.1701G>A	ENSP00000444119.1:p.Leu567=
ENST00000619831.4:c.9066G>A	ENSP00000479270.1:p.Leu3022=
ENST00000620040.4:c.9078G>A	ENSP00000478150.1:p.Leu3026=
NM_000109.3:c.9057G>A	NP_000100.2:p.Leu3019=
NM_004006.2:c.9081G>A , LRG_199t1:c.9081G>A	NP_003997.1:p.Leu3027=
NM_004009.3:c.9069G>A	NP_004000.1:p.Leu3023=
NM_004010.3:c.8712G>A	NP_004001.1:p.Leu2904=
NM_004011.3:c.5058G>A	NP_004002.2:p.Leu1686=
NM_004012.3:c.5049G>A	NP_004003.1:p.Leu1683=
NM_004013.2:c.1701G>A	NP_004004.1:p.Leu567=
NM_004014.2:c.894G>A	NP_004005.1:p.Leu298=
NM_004020.3:c.1701G>A	NP_004011.2:p.Leu567=
NM_004021.2:c.1701G>A	NP_004012.1:p.Leu567=
NM_004022.2:c.1701G>A	NP_004013.1:p.Leu567=
NM_004023.2:c.1701G>A	NP_004014.1:p.Leu567=
XM_006724468.2:c.9081G>A	XP_006724531.1:p.Leu3027=
XM_006724469.2:c.9057G>A	XP_006724532.1:p.Leu3019=
XM_006724470.2:c.9081G>A	XP_006724533.1:p.Leu3027=
XM_006724471.2:c.9081G>A	XP_006724534.1:p.Leu3027=
XM_006724472.2:c.8952G>A	XP_006724535.1:p.Leu2984=
XM_006724473.2:c.8943G>A	XP_006724536.1:p.Leu2981=
XM_006724474.2:c.9081G>A	XP_006724537.1:p.Leu3027=
XM_006724475.2:c.9081G>A	XP_006724538.1:p.Leu3027=
XM_011545467.1:c.8958G>A	XP_011543769.1:p.Leu2986=
XM_011545468.1:c.9081G>A	XP_011543770.1:p.Leu3027=
XM_006724469.3:c.9057G>A	XP_006724532.1:p.Leu3019=
XM_006724470.3:c.9081G>A	XP_006724533.1:p.Leu3027=
XM_006724474.3:c.9081G>A	XP_006724537.1:p.Leu3027=
XM_011545468.2:c.9081G>A	XP_011543770.1:p.Leu3027=
XM_017029328.1:c.9081G>A	XP_016884817.1:p.Leu3027=
XM_017029331.1:c.3255G>A	XP_016884820.1:p.Leu1085=
NM_000109.4:c.9057G>A	NP_000100.3:p.Leu3019=
NM_004006.3:c.9081G>A MANE Select	NP_003997.2:p.Leu3027=
NM_004011.4:c.5058G>A	NP_004002.3:p.Leu1686=
NM_004012.4:c.5049G>A	NP_004003.2:p.Leu1683=
NM_004021.3:c.1701G>A	NP_004012.2:p.Leu567=
NM_004023.3:c.1701G>A	NP_004014.2:p.Leu567=
NM_004013.3:c.1701G>A	NP_004004.2:p.Leu567=
NM_004014.3:c.894G>A	NP_004005.2:p.Leu298=
NM_004020.4:c.1701G>A	NP_004011.3:p.Leu567=
NM_004022.3:c.1701G>A	NP_004013.2:p.Leu567=