Canonical Allele Identifier: CA1260151243

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71667376A= , CM000664.2:g.71667376A=	GRCh38
NC_000002.11:g.71894506A= , CM000664.1:g.71894506A=	GRCh37
NC_000002.10:g.71748014A=	NCBI36
NG_008694.1:g.218754A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2732A=	ENSP00000513536.1:p.Glu911=
ENST00000698058.1:c.1949A=	ENSP00000513537.1:p.Glu650=
ENST00000698059.1:c.2057A=	ENSP00000513538.1:p.Glu686=
ENST00000258104.8:c.5201A= MANE Plus Clinical	ENSP00000258104.3:p.Glu1734=
ENST00000410020.8:c.5318A= MANE Select	ENSP00000386881.3:p.Glu1773=
ENST00000258104.7:c.5201A=	ENSP00000258104.3:p.Glu1734=
ENST00000394120.6:c.5204A=	ENSP00000377678.2:p.Glu1735=
ENST00000409366.5:c.5267A=	ENSP00000386512.1:p.Glu1756=
ENST00000409582.7:c.5315A=	ENSP00000386547.3:p.Glu1772=
ENST00000409651.5:c.5297A=	ENSP00000386683.1:p.Glu1766=
ENST00000409744.5:c.5225A=	ENSP00000386285.1:p.Glu1742=
ENST00000409762.5:c.5252A=	ENSP00000387137.1:p.Glu1751=
ENST00000410020.7:c.5318A=	ENSP00000386881.3:p.Glu1773=
ENST00000410041.1:c.5255A=	ENSP00000386617.1:p.Glu1752=
ENST00000413539.6:c.5294A=	ENSP00000407046.2:p.Glu1765=
ENST00000429174.6:c.5264A=	ENSP00000398305.2:p.Glu1755=
ENST00000479049.6:n.2086A=
NM_001130455.1:c.5204A=	NP_001123927.1:p.Glu1735=
NM_001130976.1:c.5159A=	NP_001124448.1:p.Glu1720=
NM_001130977.1:c.5222A=	NP_001124449.1:p.Glu1741=
NM_001130978.1:c.5264A=	NP_001124450.1:p.Glu1755=
NM_001130979.1:c.5294A=	NP_001124451.1:p.Glu1765=
NM_001130980.1:c.5252A=	NP_001124452.1:p.Glu1751=
NM_001130981.1:c.5315A=	NP_001124453.1:p.Glu1772=
NM_001130982.1:c.5297A=	NP_001124454.1:p.Glu1766=
NM_001130983.1:c.5267A=	NP_001124455.1:p.Glu1756=
NM_001130984.1:c.5225A=	NP_001124456.1:p.Glu1742=
NM_001130985.1:c.5255A=	NP_001124457.1:p.Glu1752=
NM_001130986.1:c.5162A=	NP_001124458.1:p.Glu1721=
NM_001130987.1:c.5318A=	NP_001124459.1:p.Glu1773=
NM_003494.3:c.5201A=	NP_003485.1:p.Glu1734=
XM_005264584.3:c.5360A=	XP_005264641.1:p.Glu1787=
XM_005264585.3:c.5357A=	XP_005264642.1:p.Glu1786=
XM_005264584.4:c.5360A=	XP_005264641.1:p.Glu1787=
XM_005264585.5:c.5357A=	XP_005264642.1:p.Glu1786=
NM_001130987.2:c.5318A= MANE Select	NP_001124459.1:p.Glu1773=
NM_001130455.2:c.5204A=	NP_001123927.1:p.Glu1735=
NM_001130976.2:c.5159A=	NP_001124448.1:p.Glu1720=
NM_001130977.2:c.5222A=	NP_001124449.1:p.Glu1741=
NM_001130978.2:c.5264A=	NP_001124450.1:p.Glu1755=
NM_001130979.2:c.5294A=	NP_001124451.1:p.Glu1765=
NM_001130980.2:c.5252A=	NP_001124452.1:p.Glu1751=
NM_001130981.2:c.5315A=	NP_001124453.1:p.Glu1772=
NM_001130982.2:c.5297A=	NP_001124454.1:p.Glu1766=
NM_001130983.2:c.5267A=	NP_001124455.1:p.Glu1756=
NM_001130984.2:c.5225A=	NP_001124456.1:p.Glu1742=
NM_001130985.2:c.5255A=	NP_001124457.1:p.Glu1752=
NM_001130986.2:c.5162A=	NP_001124458.1:p.Glu1721=
NM_003494.4:c.5201A= MANE Plus Clinical	NP_003485.1:p.Glu1734=