Canonical Allele Identifier: CA328470490

Gene: DMD

Linked Data

• dbSNP Id: rs1040785221
• gnomAD v4: X-31774010-C-T
• MyVariant Identifiers: chrX:g.31792127C>T (hg19) ; chrX:g.31774010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774010C>T , CM000685.2:g.31774010C>T	GRCh38
NC_000023.10:g.31792127C>T , CM000685.1:g.31792127C>T	GRCh37
NC_000023.9:g.31702048C>T	NCBI36
NG_012232.1:g.1570600G>A , LRG_199:g.1570600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2338G>A	ENSP00000350765.3:p.Val780Met
ENST00000682238.1:c.112G>A	ENSP00000508124.1:p.Val38Met
ENST00000683117.1:n.1153G>A
ENST00000683450.1:n.1075G>A
ENST00000683851.1:n.1153G>A
ENST00000683957.1:n.984G>A
ENST00000684130.1:c.112G>A	ENSP00000508037.1:p.Val38Met
ENST00000357033.9:c.7492G>A MANE Select	ENSP00000354923.3:p.Val2498Met
ENST00000619831.5:c.3460G>A	ENSP00000479270.2:p.Val1154Met
ENST00000620040.5:c.112G>A	ENSP00000478150.2:p.Val38Met
ENST00000680961.1:c.112G>A	ENSP00000506386.1:p.Val38Met
ENST00000681646.1:n.1153G>A
ENST00000681839.1:c.481G>A	ENSP00000505228.1:p.Val161Met
ENST00000357033.8:c.7492G>A	ENSP00000354923.3:p.Val2498Met
ENST00000358062.6:c.580G>A	ENSP00000350765.2:p.Val194Met
ENST00000359836.5:c.112G>A	ENSP00000352894.1:p.Val38Met
ENST00000378677.6:c.7480G>A	ENSP00000367948.2:p.Val2494Met
ENST00000378707.7:c.112G>A	ENSP00000367979.3:p.Val38Met
ENST00000471779.1:c.249G>A	ENSP00000417075.1:n.249G>A
ENST00000474231.5:c.112G>A	ENSP00000417123.1:p.Val38Met
ENST00000541735.5:c.112G>A	ENSP00000444119.1:p.Val38Met
ENST00000619831.4:c.7477G>A	ENSP00000479270.1:p.Val2493Met
ENST00000620040.4:c.7489G>A	ENSP00000478150.1:p.Val2497Met
NM_000109.3:c.7468G>A	NP_000100.2:p.Val2490Met
NM_004006.2:c.7492G>A , LRG_199t1:c.7492G>A	NP_003997.1:p.Val2498Met
NM_004009.3:c.7480G>A	NP_004000.1:p.Val2494Met
NM_004010.3:c.7123G>A	NP_004001.1:p.Val2375Met
NM_004011.3:c.3469G>A	NP_004002.2:p.Val1157Met
NM_004012.3:c.3460G>A	NP_004003.1:p.Val1154Met
NM_004013.2:c.112G>A	NP_004004.1:p.Val38Met
NM_004020.3:c.112G>A	NP_004011.2:p.Val38Met
NM_004021.2:c.112G>A	NP_004012.1:p.Val38Met
NM_004022.2:c.112G>A	NP_004013.1:p.Val38Met
NM_004023.2:c.112G>A	NP_004014.1:p.Val38Met
XM_006724468.2:c.7492G>A	XP_006724531.1:p.Val2498Met
XM_006724469.2:c.7468G>A	XP_006724532.1:p.Val2490Met
XM_006724470.2:c.7492G>A	XP_006724533.1:p.Val2498Met
XM_006724471.2:c.7492G>A	XP_006724534.1:p.Val2498Met
XM_006724472.2:c.7363G>A	XP_006724535.1:p.Val2455Met
XM_006724473.2:c.7354G>A	XP_006724536.1:p.Val2452Met
XM_006724474.2:c.7492G>A	XP_006724537.1:p.Val2498Met
XM_006724475.2:c.7492G>A	XP_006724538.1:p.Val2498Met
XM_011545467.1:c.7369G>A	XP_011543769.1:p.Val2457Met
XM_011545468.1:c.7492G>A	XP_011543770.1:p.Val2498Met
XM_006724469.3:c.7468G>A	XP_006724532.1:p.Val2490Met
XM_006724470.3:c.7492G>A	XP_006724533.1:p.Val2498Met
XM_006724474.3:c.7492G>A	XP_006724537.1:p.Val2498Met
XM_011545468.2:c.7492G>A	XP_011543770.1:p.Val2498Met
XM_017029328.1:c.7492G>A	XP_016884817.1:p.Val2498Met
XM_017029331.1:c.1666G>A	XP_016884820.1:p.Val556Met
NM_000109.4:c.7468G>A	NP_000100.3:p.Val2490Met
NM_004006.3:c.7492G>A MANE Select	NP_003997.2:p.Val2498Met
NM_004011.4:c.3469G>A	NP_004002.3:p.Val1157Met
NM_004012.4:c.3460G>A	NP_004003.2:p.Val1154Met
NM_004021.3:c.112G>A	NP_004012.2:p.Val38Met
NM_004023.3:c.112G>A	NP_004014.2:p.Val38Met
NM_004013.3:c.112G>A	NP_004004.2:p.Val38Met
NM_004020.4:c.112G>A	NP_004011.3:p.Val38Met
NM_004022.3:c.112G>A	NP_004013.2:p.Val38Met