Canonical Allele Identifier: CA412657352

Gene: DMD

Linked Data

• ClinVar Variation Id: 523910
• ClinVar RCV Id: RCV000627386 ; RCV003767845
• dbSNP Id: rs1556764922
• MyVariant Identifiers: chrX:g.31645930G>A (hg19) ; chrX:g.31627813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31627813G>A , CM000685.2:g.31627813G>A	GRCh38
NC_000023.10:g.31645930G>A , CM000685.1:g.31645930G>A	GRCh37
NC_000023.9:g.31555851G>A	NCBI36
NG_012232.1:g.1716797C>T , LRG_199:g.1716797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2923C>T	ENSP00000350765.3:p.Gln975Ter
ENST00000682238.1:c.697C>T	ENSP00000508124.1:p.Gln233Ter
ENST00000683450.1:n.1542C>T
ENST00000683851.1:n.1738C>T
ENST00000683957.1:n.1569C>T
ENST00000684130.1:c.697C>T	ENSP00000508037.1:p.Gln233Ter
ENST00000357033.9:c.8077C>T MANE Select	ENSP00000354923.3:p.Gln2693Ter
ENST00000619831.5:c.4045C>T	ENSP00000479270.2:p.Gln1349Ter
ENST00000620040.5:c.697C>T	ENSP00000478150.2:p.Gln233Ter
ENST00000680961.1:c.697C>T	ENSP00000506386.1:p.Gln233Ter
ENST00000681646.1:n.1738C>T
ENST00000357033.8:c.8077C>T	ENSP00000354923.3:p.Gln2693Ter
ENST00000358062.6:c.1165C>T	ENSP00000350765.2:p.Gln389Ter
ENST00000359836.5:c.697C>T	ENSP00000352894.1:p.Gln233Ter
ENST00000378677.6:c.8065C>T	ENSP00000367948.2:p.Gln2689Ter
ENST00000378707.7:c.697C>T	ENSP00000367979.3:p.Gln233Ter
ENST00000474231.5:c.697C>T	ENSP00000417123.1:p.Gln233Ter
ENST00000541735.5:c.697C>T	ENSP00000444119.1:p.Gln233Ter
ENST00000619831.4:c.8062C>T	ENSP00000479270.1:p.Gln2688Ter
ENST00000620040.4:c.8074C>T	ENSP00000478150.1:p.Gln2692Ter
NM_000109.3:c.8053C>T	NP_000100.2:p.Gln2685Ter
NM_004006.2:c.8077C>T , LRG_199t1:c.8077C>T	NP_003997.1:p.Gln2693Ter
NM_004009.3:c.8065C>T	NP_004000.1:p.Gln2689Ter
NM_004010.3:c.7708C>T	NP_004001.1:p.Gln2570Ter
NM_004011.3:c.4054C>T	NP_004002.2:p.Gln1352Ter
NM_004012.3:c.4045C>T	NP_004003.1:p.Gln1349Ter
NM_004013.2:c.697C>T	NP_004004.1:p.Gln233Ter
NM_004020.3:c.697C>T	NP_004011.2:p.Gln233Ter
NM_004021.2:c.697C>T	NP_004012.1:p.Gln233Ter
NM_004022.2:c.697C>T	NP_004013.1:p.Gln233Ter
NM_004023.2:c.697C>T	NP_004014.1:p.Gln233Ter
XM_006724468.2:c.8077C>T	XP_006724531.1:p.Gln2693Ter
XM_006724469.2:c.8053C>T	XP_006724532.1:p.Gln2685Ter
XM_006724470.2:c.8077C>T	XP_006724533.1:p.Gln2693Ter
XM_006724471.2:c.8077C>T	XP_006724534.1:p.Gln2693Ter
XM_006724472.2:c.7948C>T	XP_006724535.1:p.Gln2650Ter
XM_006724473.2:c.7939C>T	XP_006724536.1:p.Gln2647Ter
XM_006724474.2:c.8077C>T	XP_006724537.1:p.Gln2693Ter
XM_006724475.2:c.8077C>T	XP_006724538.1:p.Gln2693Ter
XM_011545467.1:c.7954C>T	XP_011543769.1:p.Gln2652Ter
XM_011545468.1:c.8077C>T	XP_011543770.1:p.Gln2693Ter
XM_006724469.3:c.8053C>T	XP_006724532.1:p.Gln2685Ter
XM_006724470.3:c.8077C>T	XP_006724533.1:p.Gln2693Ter
XM_006724474.3:c.8077C>T	XP_006724537.1:p.Gln2693Ter
XM_011545468.2:c.8077C>T	XP_011543770.1:p.Gln2693Ter
XM_017029328.1:c.8077C>T	XP_016884817.1:p.Gln2693Ter
XM_017029331.1:c.2251C>T	XP_016884820.1:p.Gln751Ter
NM_000109.4:c.8053C>T	NP_000100.3:p.Gln2685Ter
NM_004006.3:c.8077C>T MANE Select	NP_003997.2:p.Gln2693Ter
NM_004011.4:c.4054C>T	NP_004002.3:p.Gln1352Ter
NM_004012.4:c.4045C>T	NP_004003.2:p.Gln1349Ter
NM_004021.3:c.697C>T	NP_004012.2:p.Gln233Ter
NM_004023.3:c.697C>T	NP_004014.2:p.Gln233Ter
NM_004013.3:c.697C>T	NP_004004.2:p.Gln233Ter
NM_004020.4:c.697C>T	NP_004011.3:p.Gln233Ter
NM_004022.3:c.697C>T	NP_004013.2:p.Gln233Ter