Canonical Allele Identifier: CA412654314

Gene: DMD

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31478325C>G , CM000685.2:g.31478325C>G	GRCh38
NC_000023.10:g.31496442C>G , CM000685.1:g.31496442C>G	GRCh37
NC_000023.9:g.31406363C>G	NCBI36
NG_012232.1:g.1866285G>C , LRG_199:g.1866285G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3564G>C	ENSP00000350765.3:p.Lys1188Asn
ENST00000682238.1:c.1338G>C	ENSP00000508124.1:p.Lys446Asn
ENST00000683450.1:n.2183G>C
ENST00000683957.1:n.2210G>C
ENST00000684130.1:c.1338G>C	ENSP00000508037.1:p.Lys446Asn
ENST00000343523.7:c.573G>C	ENSP00000340057.4:p.Lys191Asn
ENST00000357033.9:c.8718G>C MANE Select	ENSP00000354923.3:p.Lys2906Asn
ENST00000619831.5:c.4686G>C	ENSP00000479270.2:p.Lys1562Asn
ENST00000620040.5:c.1338G>C	ENSP00000478150.2:p.Lys446Asn
ENST00000680961.1:c.1338G>C	ENSP00000506386.1:p.Lys446Asn
ENST00000681646.1:n.2379G>C
ENST00000343523.6:c.531G>C	ENSP00000340057.3:p.Lys177Asn
ENST00000357033.8:c.8718G>C	ENSP00000354923.3:p.Lys2906Asn
ENST00000358062.6:c.1806G>C	ENSP00000350765.2:p.Lys602Asn
ENST00000359836.5:c.1338G>C	ENSP00000352894.1:p.Lys446Asn
ENST00000378677.6:c.8706G>C	ENSP00000367948.2:p.Lys2902Asn
ENST00000378707.7:c.1338G>C	ENSP00000367979.3:p.Lys446Asn
ENST00000445312.1:n.775G>C
ENST00000474231.5:c.1338G>C	ENSP00000417123.1:p.Lys446Asn
ENST00000541735.5:c.1338G>C	ENSP00000444119.1:p.Lys446Asn
ENST00000619831.4:c.8703G>C	ENSP00000479270.1:p.Lys2901Asn
ENST00000620040.4:c.8715G>C	ENSP00000478150.1:p.Lys2905Asn
NM_000109.3:c.8694G>C	NP_000100.2:p.Lys2898Asn
NM_004006.2:c.8718G>C , LRG_199t1:c.8718G>C	NP_003997.1:p.Lys2906Asn
NM_004009.3:c.8706G>C	NP_004000.1:p.Lys2902Asn
NM_004010.3:c.8349G>C	NP_004001.1:p.Lys2783Asn
NM_004011.3:c.4695G>C	NP_004002.2:p.Lys1565Asn
NM_004012.3:c.4686G>C	NP_004003.1:p.Lys1562Asn
NM_004013.2:c.1338G>C	NP_004004.1:p.Lys446Asn
NM_004014.2:c.531G>C	NP_004005.1:p.Lys177Asn
NM_004020.3:c.1338G>C	NP_004011.2:p.Lys446Asn
NM_004021.2:c.1338G>C	NP_004012.1:p.Lys446Asn
NM_004022.2:c.1338G>C	NP_004013.1:p.Lys446Asn
NM_004023.2:c.1338G>C	NP_004014.1:p.Lys446Asn
XM_006724468.2:c.8718G>C	XP_006724531.1:p.Lys2906Asn
XM_006724469.2:c.8694G>C	XP_006724532.1:p.Lys2898Asn
XM_006724470.2:c.8718G>C	XP_006724533.1:p.Lys2906Asn
XM_006724471.2:c.8718G>C	XP_006724534.1:p.Lys2906Asn
XM_006724472.2:c.8589G>C	XP_006724535.1:p.Lys2863Asn
XM_006724473.2:c.8580G>C	XP_006724536.1:p.Lys2860Asn
XM_006724474.2:c.8718G>C	XP_006724537.1:p.Lys2906Asn
XM_006724475.2:c.8718G>C	XP_006724538.1:p.Lys2906Asn
XM_011545467.1:c.8595G>C	XP_011543769.1:p.Lys2865Asn
XM_011545468.1:c.8718G>C	XP_011543770.1:p.Lys2906Asn
XM_006724469.3:c.8694G>C	XP_006724532.1:p.Lys2898Asn
XM_006724470.3:c.8718G>C	XP_006724533.1:p.Lys2906Asn
XM_006724474.3:c.8718G>C	XP_006724537.1:p.Lys2906Asn
XM_011545468.2:c.8718G>C	XP_011543770.1:p.Lys2906Asn
XM_017029328.1:c.8718G>C	XP_016884817.1:p.Lys2906Asn
XM_017029331.1:c.2892G>C	XP_016884820.1:p.Lys964Asn
NM_000109.4:c.8694G>C	NP_000100.3:p.Lys2898Asn
NM_004006.3:c.8718G>C MANE Select	NP_003997.2:p.Lys2906Asn
NM_004011.4:c.4695G>C	NP_004002.3:p.Lys1565Asn
NM_004012.4:c.4686G>C	NP_004003.2:p.Lys1562Asn
NM_004021.3:c.1338G>C	NP_004012.2:p.Lys446Asn
NM_004023.3:c.1338G>C	NP_004014.2:p.Lys446Asn
NM_004013.3:c.1338G>C	NP_004004.2:p.Lys446Asn
NM_004014.3:c.531G>C	NP_004005.2:p.Lys177Asn
NM_004020.4:c.1338G>C	NP_004011.3:p.Lys446Asn
NM_004022.3:c.1338G>C	NP_004013.2:p.Lys446Asn