Canonical Allele Identifier: CA515859408

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31792269A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774152A>C , CM000685.2:g.31774152A>C	GRCh38
NC_000023.10:g.31792269A>C , CM000685.1:g.31792269A>C	GRCh37
NC_000023.9:g.31702190A>C	NCBI36
NG_012232.1:g.1570458T>G , LRG_199:g.1570458T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2196T>G	ENSP00000350765.3:p.Val732=
ENST00000682238.1:c.-31T>G	ENSP00000508124.1:n.-31T>G
ENST00000683117.1:n.1011T>G
ENST00000683450.1:n.933T>G
ENST00000683851.1:n.1011T>G
ENST00000683957.1:n.842T>G
ENST00000684130.1:c.-31T>G	ENSP00000508037.1:n.-31T>G
ENST00000357033.9:c.7350T>G MANE Select	ENSP00000354923.3:p.Val2450=
ENST00000619831.5:c.3318T>G	ENSP00000479270.2:p.Val1106=
ENST00000620040.5:c.-31T>G	ENSP00000478150.2:n.-31T>G
ENST00000680961.1:c.-31T>G	ENSP00000506386.1:n.-31T>G
ENST00000681646.1:n.1011T>G
ENST00000681839.1:c.339T>G	ENSP00000505228.1:p.Val113=
ENST00000357033.8:c.7350T>G	ENSP00000354923.3:p.Val2450=
ENST00000358062.6:c.438T>G	ENSP00000350765.2:p.Val146=
ENST00000359836.5:c.-31T>G	ENSP00000352894.1:n.-31T>G
ENST00000378677.6:c.7338T>G	ENSP00000367948.2:p.Val2446=
ENST00000378707.7:c.-31T>G	ENSP00000367979.3:n.-31T>G
ENST00000471779.1:c.107T>G	ENSP00000417075.1:n.107T>G
ENST00000474231.5:c.-31T>G	ENSP00000417123.1:n.-31T>G
ENST00000541735.5:c.-31T>G	ENSP00000444119.1:n.-31T>G
ENST00000619831.4:c.7335T>G	ENSP00000479270.1:p.Val2445=
ENST00000620040.4:c.7347T>G	ENSP00000478150.1:p.Val2449=
NM_000109.3:c.7326T>G	NP_000100.2:p.Val2442=
NM_004006.2:c.7350T>G , LRG_199t1:c.7350T>G	NP_003997.1:p.Val2450=
NM_004009.3:c.7338T>G	NP_004000.1:p.Val2446=
NM_004010.3:c.6981T>G	NP_004001.1:p.Val2327=
NM_004011.3:c.3327T>G	NP_004002.2:p.Val1109=
NM_004012.3:c.3318T>G	NP_004003.1:p.Val1106=
NM_004013.2:c.-31T>G	NP_004004.1:n.-31T>G
NM_004020.3:c.-31T>G	NP_004011.2:n.-31T>G
NM_004021.2:c.-31T>G	NP_004012.1:n.-31T>G
NM_004022.2:c.-31T>G	NP_004013.1:n.-31T>G
NM_004023.2:c.-31T>G	NP_004014.1:n.-31T>G
XM_006724468.2:c.7350T>G	XP_006724531.1:p.Val2450=
XM_006724469.2:c.7326T>G	XP_006724532.1:p.Val2442=
XM_006724470.2:c.7350T>G	XP_006724533.1:p.Val2450=
XM_006724471.2:c.7350T>G	XP_006724534.1:p.Val2450=
XM_006724472.2:c.7221T>G	XP_006724535.1:p.Val2407=
XM_006724473.2:c.7212T>G	XP_006724536.1:p.Val2404=
XM_006724474.2:c.7350T>G	XP_006724537.1:p.Val2450=
XM_006724475.2:c.7350T>G	XP_006724538.1:p.Val2450=
XM_011545467.1:c.7227T>G	XP_011543769.1:p.Val2409=
XM_011545468.1:c.7350T>G	XP_011543770.1:p.Val2450=
XM_006724469.3:c.7326T>G	XP_006724532.1:p.Val2442=
XM_006724470.3:c.7350T>G	XP_006724533.1:p.Val2450=
XM_006724474.3:c.7350T>G	XP_006724537.1:p.Val2450=
XM_011545468.2:c.7350T>G	XP_011543770.1:p.Val2450=
XM_017029328.1:c.7350T>G	XP_016884817.1:p.Val2450=
XM_017029331.1:c.1524T>G	XP_016884820.1:p.Val508=
NM_000109.4:c.7326T>G	NP_000100.3:p.Val2442=
NM_004006.3:c.7350T>G MANE Select	NP_003997.2:p.Val2450=
NM_004011.4:c.3327T>G	NP_004002.3:p.Val1109=
NM_004012.4:c.3318T>G	NP_004003.2:p.Val1106=
NM_004021.3:c.-31T>G	NP_004012.2:n.-31T>G
NM_004023.3:c.-31T>G	NP_004014.2:n.-31T>G
NM_004013.3:c.-31T>G	NP_004004.2:n.-31T>G
NM_004020.4:c.-31T>G	NP_004011.3:n.-31T>G
NM_004022.3:c.-31T>G	NP_004013.2:n.-31T>G