Canonical Allele Identifier: CA1260152221
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669190C= , CM000664.2:g.71669190C= GRCh38
NC_000002.11:g.71896320C= , CM000664.1:g.71896320C= GRCh37
NC_000002.10:g.71749828C= NCBI36
NG_008694.1:g.220568C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3039C= ENSP00000513536.1:p.Ser1013=
ENST00000698058.1:c.2256C= ENSP00000513537.1:p.Ser752=
ENST00000698059.1:c.2364C= ENSP00000513538.1:p.Ser788=
ENST00000258104.8:c.5508C= MANE Plus Clinical ENSP00000258104.3:p.Ser1836=
ENST00000410020.8:c.5625C= MANE Select ENSP00000386881.3:p.Ser1875=
ENST00000258104.7:c.5508C= ENSP00000258104.3:p.Ser1836=
ENST00000394120.6:c.5511C= ENSP00000377678.2:p.Ser1837=
ENST00000409366.5:c.5574C= ENSP00000386512.1:p.Ser1858=
ENST00000409582.7:c.5622C= ENSP00000386547.3:p.Ser1874=
ENST00000409651.5:c.5604C= ENSP00000386683.1:p.Ser1868=
ENST00000409744.5:c.5532C= ENSP00000386285.1:p.Ser1844=
ENST00000409762.5:c.5559C= ENSP00000387137.1:p.Ser1853=
ENST00000410020.7:c.5625C= ENSP00000386881.3:p.Ser1875=
ENST00000410041.1:c.5562C= ENSP00000386617.1:p.Ser1854=
ENST00000413539.6:c.5601C= ENSP00000407046.2:p.Ser1867=
ENST00000429174.6:c.5571C= ENSP00000398305.2:p.Ser1857=
ENST00000479049.6:n.2393C=
NM_001130455.1:c.5511C= NP_001123927.1:p.Ser1837=
NM_001130976.1:c.5466C= NP_001124448.1:p.Ser1822=
NM_001130977.1:c.5529C= NP_001124449.1:p.Ser1843=
NM_001130978.1:c.5571C= NP_001124450.1:p.Ser1857=
NM_001130979.1:c.5601C= NP_001124451.1:p.Ser1867=
NM_001130980.1:c.5559C= NP_001124452.1:p.Ser1853=
NM_001130981.1:c.5622C= NP_001124453.1:p.Ser1874=
NM_001130982.1:c.5604C= NP_001124454.1:p.Ser1868=
NM_001130983.1:c.5574C= NP_001124455.1:p.Ser1858=
NM_001130984.1:c.5532C= NP_001124456.1:p.Ser1844=
NM_001130985.1:c.5562C= NP_001124457.1:p.Ser1854=
NM_001130986.1:c.5469C= NP_001124458.1:p.Ser1823=
NM_001130987.1:c.5625C= NP_001124459.1:p.Ser1875=
NM_003494.3:c.5508C= NP_003485.1:p.Ser1836=
XM_005264584.3:c.5667C= XP_005264641.1:p.Ser1889=
XM_005264585.3:c.5664C= XP_005264642.1:p.Ser1888=
XM_005264584.4:c.5667C= XP_005264641.1:p.Ser1889=
XM_005264585.5:c.5664C= XP_005264642.1:p.Ser1888=
NM_001130987.2:c.5625C= MANE Select NP_001124459.1:p.Ser1875=
NM_001130455.2:c.5511C= NP_001123927.1:p.Ser1837=
NM_001130976.2:c.5466C= NP_001124448.1:p.Ser1822=
NM_001130977.2:c.5529C= NP_001124449.1:p.Ser1843=
NM_001130978.2:c.5571C= NP_001124450.1:p.Ser1857=
NM_001130979.2:c.5601C= NP_001124451.1:p.Ser1867=
NM_001130980.2:c.5559C= NP_001124452.1:p.Ser1853=
NM_001130981.2:c.5622C= NP_001124453.1:p.Ser1874=
NM_001130982.2:c.5604C= NP_001124454.1:p.Ser1868=
NM_001130983.2:c.5574C= NP_001124455.1:p.Ser1858=
NM_001130984.2:c.5532C= NP_001124456.1:p.Ser1844=
NM_001130985.2:c.5562C= NP_001124457.1:p.Ser1854=
NM_001130986.2:c.5469C= NP_001124458.1:p.Ser1823=
NM_003494.4:c.5508C= MANE Plus Clinical NP_003485.1:p.Ser1836=