Canonical Allele Identifier: CA412659049

Gene: DMD

Linked Data

• COSMIC: COSM4678039 ; COSM4678040 ; COSM4678041 ; COSM4678042 ; COSM4678043
• MyVariant Identifiers: chrX:g.31792236C>T (hg19) ; chrX:g.31774119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774119C>T , CM000685.2:g.31774119C>T	GRCh38
NC_000023.10:g.31792236C>T , CM000685.1:g.31792236C>T	GRCh37
NC_000023.9:g.31702157C>T	NCBI36
NG_012232.1:g.1570491G>A , LRG_199:g.1570491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2229G>A	ENSP00000350765.3:p.Met743Ile
ENST00000682238.1:c.3G>A	ENSP00000508124.1:p.Met1Ile
ENST00000683117.1:n.1044G>A
ENST00000683450.1:n.966G>A
ENST00000683851.1:n.1044G>A
ENST00000683957.1:n.875G>A
ENST00000684130.1:c.3G>A	ENSP00000508037.1:p.Met1Ile
ENST00000357033.9:c.7383G>A MANE Select	ENSP00000354923.3:p.Met2461Ile
ENST00000619831.5:c.3351G>A	ENSP00000479270.2:p.Met1117Ile
ENST00000620040.5:c.3G>A	ENSP00000478150.2:p.Met1Ile
ENST00000680961.1:c.3G>A	ENSP00000506386.1:p.Met1Ile
ENST00000681646.1:n.1044G>A
ENST00000681839.1:c.372G>A	ENSP00000505228.1:p.Met124Ile
ENST00000357033.8:c.7383G>A	ENSP00000354923.3:p.Met2461Ile
ENST00000358062.6:c.471G>A	ENSP00000350765.2:p.Met157Ile
ENST00000359836.5:c.3G>A	ENSP00000352894.1:p.Met1Ile
ENST00000378677.6:c.7371G>A	ENSP00000367948.2:p.Met2457Ile
ENST00000378707.7:c.3G>A	ENSP00000367979.3:p.Met1Ile
ENST00000471779.1:c.140G>A	ENSP00000417075.1:n.140G>A
ENST00000474231.5:c.3G>A	ENSP00000417123.1:p.Met1Ile
ENST00000541735.5:c.3G>A	ENSP00000444119.1:p.Met1Ile
ENST00000619831.4:c.7368G>A	ENSP00000479270.1:p.Met2456Ile
ENST00000620040.4:c.7380G>A	ENSP00000478150.1:p.Met2460Ile
NM_000109.3:c.7359G>A	NP_000100.2:p.Met2453Ile
NM_004006.2:c.7383G>A , LRG_199t1:c.7383G>A	NP_003997.1:p.Met2461Ile
NM_004009.3:c.7371G>A	NP_004000.1:p.Met2457Ile
NM_004010.3:c.7014G>A	NP_004001.1:p.Met2338Ile
NM_004011.3:c.3360G>A	NP_004002.2:p.Met1120Ile
NM_004012.3:c.3351G>A	NP_004003.1:p.Met1117Ile
NM_004013.2:c.3G>A	NP_004004.1:p.Met1Ile
NM_004020.3:c.3G>A	NP_004011.2:p.Met1Ile
NM_004021.2:c.3G>A	NP_004012.1:p.Met1Ile
NM_004022.2:c.3G>A	NP_004013.1:p.Met1Ile
NM_004023.2:c.3G>A	NP_004014.1:p.Met1Ile
XM_006724468.2:c.7383G>A	XP_006724531.1:p.Met2461Ile
XM_006724469.2:c.7359G>A	XP_006724532.1:p.Met2453Ile
XM_006724470.2:c.7383G>A	XP_006724533.1:p.Met2461Ile
XM_006724471.2:c.7383G>A	XP_006724534.1:p.Met2461Ile
XM_006724472.2:c.7254G>A	XP_006724535.1:p.Met2418Ile
XM_006724473.2:c.7245G>A	XP_006724536.1:p.Met2415Ile
XM_006724474.2:c.7383G>A	XP_006724537.1:p.Met2461Ile
XM_006724475.2:c.7383G>A	XP_006724538.1:p.Met2461Ile
XM_011545467.1:c.7260G>A	XP_011543769.1:p.Met2420Ile
XM_011545468.1:c.7383G>A	XP_011543770.1:p.Met2461Ile
XM_006724469.3:c.7359G>A	XP_006724532.1:p.Met2453Ile
XM_006724470.3:c.7383G>A	XP_006724533.1:p.Met2461Ile
XM_006724474.3:c.7383G>A	XP_006724537.1:p.Met2461Ile
XM_011545468.2:c.7383G>A	XP_011543770.1:p.Met2461Ile
XM_017029328.1:c.7383G>A	XP_016884817.1:p.Met2461Ile
XM_017029331.1:c.1557G>A	XP_016884820.1:p.Met519Ile
NM_000109.4:c.7359G>A	NP_000100.3:p.Met2453Ile
NM_004006.3:c.7383G>A MANE Select	NP_003997.2:p.Met2461Ile
NM_004011.4:c.3360G>A	NP_004002.3:p.Met1120Ile
NM_004012.4:c.3351G>A	NP_004003.2:p.Met1117Ile
NM_004021.3:c.3G>A	NP_004012.2:p.Met1Ile
NM_004023.3:c.3G>A	NP_004014.2:p.Met1Ile
NM_004013.3:c.3G>A	NP_004004.2:p.Met1Ile
NM_004020.4:c.3G>A	NP_004011.3:p.Met1Ile
NM_004022.3:c.3G>A	NP_004013.2:p.Met1Ile