Canonical Allele Identifier: CA412657065

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31645799T>G (hg19) ; chrX:g.31627682T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31627682T>G , CM000685.2:g.31627682T>G	GRCh38
NC_000023.10:g.31645799T>G , CM000685.1:g.31645799T>G	GRCh37
NC_000023.9:g.31555720T>G	NCBI36
NG_012232.1:g.1716928A>C , LRG_199:g.1716928A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3054A>C	ENSP00000350765.3:p.Lys1018Asn
ENST00000682238.1:c.828A>C	ENSP00000508124.1:p.Lys276Asn
ENST00000683450.1:n.1673A>C
ENST00000683851.1:n.1869A>C
ENST00000683957.1:n.1700A>C
ENST00000684130.1:c.828A>C	ENSP00000508037.1:p.Lys276Asn
ENST00000357033.9:c.8208A>C MANE Select	ENSP00000354923.3:p.Lys2736Asn
ENST00000619831.5:c.4176A>C	ENSP00000479270.2:p.Lys1392Asn
ENST00000620040.5:c.828A>C	ENSP00000478150.2:p.Lys276Asn
ENST00000680961.1:c.828A>C	ENSP00000506386.1:p.Lys276Asn
ENST00000681646.1:n.1869A>C
ENST00000357033.8:c.8208A>C	ENSP00000354923.3:p.Lys2736Asn
ENST00000358062.6:c.1296A>C	ENSP00000350765.2:p.Lys432Asn
ENST00000359836.5:c.828A>C	ENSP00000352894.1:p.Lys276Asn
ENST00000378677.6:c.8196A>C	ENSP00000367948.2:p.Lys2732Asn
ENST00000378707.7:c.828A>C	ENSP00000367979.3:p.Lys276Asn
ENST00000474231.5:c.828A>C	ENSP00000417123.1:p.Lys276Asn
ENST00000541735.5:c.828A>C	ENSP00000444119.1:p.Lys276Asn
ENST00000619831.4:c.8193A>C	ENSP00000479270.1:p.Lys2731Asn
ENST00000620040.4:c.8205A>C	ENSP00000478150.1:p.Lys2735Asn
NM_000109.3:c.8184A>C	NP_000100.2:p.Lys2728Asn
NM_004006.2:c.8208A>C , LRG_199t1:c.8208A>C	NP_003997.1:p.Lys2736Asn
NM_004009.3:c.8196A>C	NP_004000.1:p.Lys2732Asn
NM_004010.3:c.7839A>C	NP_004001.1:p.Lys2613Asn
NM_004011.3:c.4185A>C	NP_004002.2:p.Lys1395Asn
NM_004012.3:c.4176A>C	NP_004003.1:p.Lys1392Asn
NM_004013.2:c.828A>C	NP_004004.1:p.Lys276Asn
NM_004020.3:c.828A>C	NP_004011.2:p.Lys276Asn
NM_004021.2:c.828A>C	NP_004012.1:p.Lys276Asn
NM_004022.2:c.828A>C	NP_004013.1:p.Lys276Asn
NM_004023.2:c.828A>C	NP_004014.1:p.Lys276Asn
XM_006724468.2:c.8208A>C	XP_006724531.1:p.Lys2736Asn
XM_006724469.2:c.8184A>C	XP_006724532.1:p.Lys2728Asn
XM_006724470.2:c.8208A>C	XP_006724533.1:p.Lys2736Asn
XM_006724471.2:c.8208A>C	XP_006724534.1:p.Lys2736Asn
XM_006724472.2:c.8079A>C	XP_006724535.1:p.Lys2693Asn
XM_006724473.2:c.8070A>C	XP_006724536.1:p.Lys2690Asn
XM_006724474.2:c.8208A>C	XP_006724537.1:p.Lys2736Asn
XM_006724475.2:c.8208A>C	XP_006724538.1:p.Lys2736Asn
XM_011545467.1:c.8085A>C	XP_011543769.1:p.Lys2695Asn
XM_011545468.1:c.8208A>C	XP_011543770.1:p.Lys2736Asn
XM_006724469.3:c.8184A>C	XP_006724532.1:p.Lys2728Asn
XM_006724470.3:c.8208A>C	XP_006724533.1:p.Lys2736Asn
XM_006724474.3:c.8208A>C	XP_006724537.1:p.Lys2736Asn
XM_011545468.2:c.8208A>C	XP_011543770.1:p.Lys2736Asn
XM_017029328.1:c.8208A>C	XP_016884817.1:p.Lys2736Asn
XM_017029331.1:c.2382A>C	XP_016884820.1:p.Lys794Asn
NM_000109.4:c.8184A>C	NP_000100.3:p.Lys2728Asn
NM_004006.3:c.8208A>C MANE Select	NP_003997.2:p.Lys2736Asn
NM_004011.4:c.4185A>C	NP_004002.3:p.Lys1395Asn
NM_004012.4:c.4176A>C	NP_004003.2:p.Lys1392Asn
NM_004021.3:c.828A>C	NP_004012.2:p.Lys276Asn
NM_004023.3:c.828A>C	NP_004014.2:p.Lys276Asn
NM_004013.3:c.828A>C	NP_004004.2:p.Lys276Asn
NM_004020.4:c.828A>C	NP_004011.3:p.Lys276Asn
NM_004022.3:c.828A>C	NP_004013.2:p.Lys276Asn