Canonical Allele Identifier: CA412659060

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31792240T>C (hg19) ; chrX:g.31774123T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774123T>C , CM000685.2:g.31774123T>C	GRCh38
NC_000023.10:g.31792240T>C , CM000685.1:g.31792240T>C	GRCh37
NC_000023.9:g.31702161T>C	NCBI36
NG_012232.1:g.1570487A>G , LRG_199:g.1570487A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2225A>G	ENSP00000350765.3:p.Glu742Gly
ENST00000682238.1:c.-2A>G	ENSP00000508124.1:n.-2A>G
ENST00000683117.1:n.1040A>G
ENST00000683450.1:n.962A>G
ENST00000683851.1:n.1040A>G
ENST00000683957.1:n.871A>G
ENST00000684130.1:c.-2A>G	ENSP00000508037.1:n.-2A>G
ENST00000357033.9:c.7379A>G MANE Select	ENSP00000354923.3:p.Glu2460Gly
ENST00000619831.5:c.3347A>G	ENSP00000479270.2:p.Glu1116Gly
ENST00000620040.5:c.-2A>G	ENSP00000478150.2:n.-2A>G
ENST00000680961.1:c.-2A>G	ENSP00000506386.1:n.-2A>G
ENST00000681646.1:n.1040A>G
ENST00000681839.1:c.368A>G	ENSP00000505228.1:p.Glu123Gly
ENST00000357033.8:c.7379A>G	ENSP00000354923.3:p.Glu2460Gly
ENST00000358062.6:c.467A>G	ENSP00000350765.2:p.Glu156Gly
ENST00000359836.5:c.-2A>G	ENSP00000352894.1:n.-2A>G
ENST00000378677.6:c.7367A>G	ENSP00000367948.2:p.Glu2456Gly
ENST00000378707.7:c.-2A>G	ENSP00000367979.3:n.-2A>G
ENST00000471779.1:c.136A>G	ENSP00000417075.1:n.136A>G
ENST00000474231.5:c.-2A>G	ENSP00000417123.1:n.-2A>G
ENST00000541735.5:c.-2A>G	ENSP00000444119.1:n.-2A>G
ENST00000619831.4:c.7364A>G	ENSP00000479270.1:p.Glu2455Gly
ENST00000620040.4:c.7376A>G	ENSP00000478150.1:p.Glu2459Gly
NM_000109.3:c.7355A>G	NP_000100.2:p.Glu2452Gly
NM_004006.2:c.7379A>G , LRG_199t1:c.7379A>G	NP_003997.1:p.Glu2460Gly
NM_004009.3:c.7367A>G	NP_004000.1:p.Glu2456Gly
NM_004010.3:c.7010A>G	NP_004001.1:p.Glu2337Gly
NM_004011.3:c.3356A>G	NP_004002.2:p.Glu1119Gly
NM_004012.3:c.3347A>G	NP_004003.1:p.Glu1116Gly
NM_004013.2:c.-2A>G	NP_004004.1:n.-2A>G
NM_004020.3:c.-2A>G	NP_004011.2:n.-2A>G
NM_004021.2:c.-2A>G	NP_004012.1:n.-2A>G
NM_004022.2:c.-2A>G	NP_004013.1:n.-2A>G
NM_004023.2:c.-2A>G	NP_004014.1:n.-2A>G
XM_006724468.2:c.7379A>G	XP_006724531.1:p.Glu2460Gly
XM_006724469.2:c.7355A>G	XP_006724532.1:p.Glu2452Gly
XM_006724470.2:c.7379A>G	XP_006724533.1:p.Glu2460Gly
XM_006724471.2:c.7379A>G	XP_006724534.1:p.Glu2460Gly
XM_006724472.2:c.7250A>G	XP_006724535.1:p.Glu2417Gly
XM_006724473.2:c.7241A>G	XP_006724536.1:p.Glu2414Gly
XM_006724474.2:c.7379A>G	XP_006724537.1:p.Glu2460Gly
XM_006724475.2:c.7379A>G	XP_006724538.1:p.Glu2460Gly
XM_011545467.1:c.7256A>G	XP_011543769.1:p.Glu2419Gly
XM_011545468.1:c.7379A>G	XP_011543770.1:p.Glu2460Gly
XM_006724469.3:c.7355A>G	XP_006724532.1:p.Glu2452Gly
XM_006724470.3:c.7379A>G	XP_006724533.1:p.Glu2460Gly
XM_006724474.3:c.7379A>G	XP_006724537.1:p.Glu2460Gly
XM_011545468.2:c.7379A>G	XP_011543770.1:p.Glu2460Gly
XM_017029328.1:c.7379A>G	XP_016884817.1:p.Glu2460Gly
XM_017029331.1:c.1553A>G	XP_016884820.1:p.Glu518Gly
NM_000109.4:c.7355A>G	NP_000100.3:p.Glu2452Gly
NM_004006.3:c.7379A>G MANE Select	NP_003997.2:p.Glu2460Gly
NM_004011.4:c.3356A>G	NP_004002.3:p.Glu1119Gly
NM_004012.4:c.3347A>G	NP_004003.2:p.Glu1116Gly
NM_004021.3:c.-2A>G	NP_004012.2:n.-2A>G
NM_004023.3:c.-2A>G	NP_004014.2:n.-2A>G
NM_004013.3:c.-2A>G	NP_004004.2:n.-2A>G
NM_004020.4:c.-2A>G	NP_004011.3:n.-2A>G
NM_004022.3:c.-2A>G	NP_004013.2:n.-2A>G