Canonical Allele Identifier: CA515858183

Gene: DMD

Linked Data

• ClinVar Variation Id: 1112937
• ClinVar RCV Id: RCV001440131
• dbSNP Id: rs757517457
• MyVariant Identifiers: chrX:g.31462607C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444490C>T , CM000685.2:g.31444490C>T	GRCh38
NC_000023.10:g.31462607C>T , CM000685.1:g.31462607C>T	GRCh37
NC_000023.9:g.31372528C>T	NCBI36
NG_012232.1:g.1900120G>A , LRG_199:g.1900120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3921G>A	ENSP00000350765.3:p.Lys1307=
ENST00000682238.1:c.1695G>A	ENSP00000508124.1:p.Lys565=
ENST00000683450.1:n.2540G>A
ENST00000683957.1:n.2567G>A
ENST00000684130.1:c.1695G>A	ENSP00000508037.1:p.Lys565=
ENST00000343523.7:c.930G>A	ENSP00000340057.4:p.Lys310=
ENST00000357033.9:c.9075G>A MANE Select	ENSP00000354923.3:p.Lys3025=
ENST00000619831.5:c.5043G>A	ENSP00000479270.2:p.Lys1681=
ENST00000620040.5:c.1695G>A	ENSP00000478150.2:p.Lys565=
ENST00000680961.1:c.1695G>A	ENSP00000506386.1:p.Lys565=
ENST00000681646.1:n.2736G>A
ENST00000343523.6:c.888G>A	ENSP00000340057.3:p.Lys296=
ENST00000357033.8:c.9075G>A	ENSP00000354923.3:p.Lys3025=
ENST00000358062.6:c.2163G>A	ENSP00000350765.2:p.Lys721=
ENST00000359836.5:c.1695G>A	ENSP00000352894.1:p.Lys565=
ENST00000378677.6:c.9063G>A	ENSP00000367948.2:p.Lys3021=
ENST00000378707.7:c.1695G>A	ENSP00000367979.3:p.Lys565=
ENST00000474231.5:c.1695G>A	ENSP00000417123.1:p.Lys565=
ENST00000541735.5:c.1695G>A	ENSP00000444119.1:p.Lys565=
ENST00000619831.4:c.9060G>A	ENSP00000479270.1:p.Lys3020=
ENST00000620040.4:c.9072G>A	ENSP00000478150.1:p.Lys3024=
NM_000109.3:c.9051G>A	NP_000100.2:p.Lys3017=
NM_004006.2:c.9075G>A , LRG_199t1:c.9075G>A	NP_003997.1:p.Lys3025=
NM_004009.3:c.9063G>A	NP_004000.1:p.Lys3021=
NM_004010.3:c.8706G>A	NP_004001.1:p.Lys2902=
NM_004011.3:c.5052G>A	NP_004002.2:p.Lys1684=
NM_004012.3:c.5043G>A	NP_004003.1:p.Lys1681=
NM_004013.2:c.1695G>A	NP_004004.1:p.Lys565=
NM_004014.2:c.888G>A	NP_004005.1:p.Lys296=
NM_004020.3:c.1695G>A	NP_004011.2:p.Lys565=
NM_004021.2:c.1695G>A	NP_004012.1:p.Lys565=
NM_004022.2:c.1695G>A	NP_004013.1:p.Lys565=
NM_004023.2:c.1695G>A	NP_004014.1:p.Lys565=
XM_006724468.2:c.9075G>A	XP_006724531.1:p.Lys3025=
XM_006724469.2:c.9051G>A	XP_006724532.1:p.Lys3017=
XM_006724470.2:c.9075G>A	XP_006724533.1:p.Lys3025=
XM_006724471.2:c.9075G>A	XP_006724534.1:p.Lys3025=
XM_006724472.2:c.8946G>A	XP_006724535.1:p.Lys2982=
XM_006724473.2:c.8937G>A	XP_006724536.1:p.Lys2979=
XM_006724474.2:c.9075G>A	XP_006724537.1:p.Lys3025=
XM_006724475.2:c.9075G>A	XP_006724538.1:p.Lys3025=
XM_011545467.1:c.8952G>A	XP_011543769.1:p.Lys2984=
XM_011545468.1:c.9075G>A	XP_011543770.1:p.Lys3025=
XM_006724469.3:c.9051G>A	XP_006724532.1:p.Lys3017=
XM_006724470.3:c.9075G>A	XP_006724533.1:p.Lys3025=
XM_006724474.3:c.9075G>A	XP_006724537.1:p.Lys3025=
XM_011545468.2:c.9075G>A	XP_011543770.1:p.Lys3025=
XM_017029328.1:c.9075G>A	XP_016884817.1:p.Lys3025=
XM_017029331.1:c.3249G>A	XP_016884820.1:p.Lys1083=
NM_000109.4:c.9051G>A	NP_000100.3:p.Lys3017=
NM_004006.3:c.9075G>A MANE Select	NP_003997.2:p.Lys3025=
NM_004011.4:c.5052G>A	NP_004002.3:p.Lys1684=
NM_004012.4:c.5043G>A	NP_004003.2:p.Lys1681=
NM_004021.3:c.1695G>A	NP_004012.2:p.Lys565=
NM_004023.3:c.1695G>A	NP_004014.2:p.Lys565=
NM_004013.3:c.1695G>A	NP_004004.2:p.Lys565=
NM_004014.3:c.888G>A	NP_004005.2:p.Lys296=
NM_004020.4:c.1695G>A	NP_004011.3:p.Lys565=
NM_004022.3:c.1695G>A	NP_004013.2:p.Lys565=