Canonical Allele Identifier: CA1260152488
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669723C= , CM000664.2:g.71669723C= GRCh38
NC_000002.11:g.71896853C= , CM000664.1:g.71896853C= GRCh37
NC_000002.10:g.71750361C= NCBI36
NG_008694.1:g.221101C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3175C= ENSP00000513536.1:p.Gln1059=
ENST00000698058.1:c.2392C= ENSP00000513537.1:p.Gln798=
ENST00000698059.1:c.2500C= ENSP00000513538.1:p.Gln834=
ENST00000258104.8:c.5644C= MANE Plus Clinical ENSP00000258104.3:p.Gln1882=
ENST00000410020.8:c.5761C= MANE Select ENSP00000386881.3:p.Gln1921=
ENST00000258104.7:c.5644C= ENSP00000258104.3:p.Gln1882=
ENST00000394120.6:c.5647C= ENSP00000377678.2:p.Gln1883=
ENST00000409366.5:c.5710C= ENSP00000386512.1:p.Gln1904=
ENST00000409582.7:c.5758C= ENSP00000386547.3:p.Gln1920=
ENST00000409651.5:c.5740C= ENSP00000386683.1:p.Gln1914=
ENST00000409744.5:c.5668C= ENSP00000386285.1:p.Gln1890=
ENST00000409762.5:c.5695C= ENSP00000387137.1:p.Gln1899=
ENST00000410020.7:c.5761C= ENSP00000386881.3:p.Gln1921=
ENST00000410041.1:c.5698C= ENSP00000386617.1:p.Gln1900=
ENST00000413539.6:c.5737C= ENSP00000407046.2:p.Gln1913=
ENST00000429174.6:c.5707C= ENSP00000398305.2:p.Gln1903=
ENST00000479049.6:n.2529C=
NM_001130455.1:c.5647C= NP_001123927.1:p.Gln1883=
NM_001130976.1:c.5602C= NP_001124448.1:p.Gln1868=
NM_001130977.1:c.5665C= NP_001124449.1:p.Gln1889=
NM_001130978.1:c.5707C= NP_001124450.1:p.Gln1903=
NM_001130979.1:c.5737C= NP_001124451.1:p.Gln1913=
NM_001130980.1:c.5695C= NP_001124452.1:p.Gln1899=
NM_001130981.1:c.5758C= NP_001124453.1:p.Gln1920=
NM_001130982.1:c.5740C= NP_001124454.1:p.Gln1914=
NM_001130983.1:c.5710C= NP_001124455.1:p.Gln1904=
NM_001130984.1:c.5668C= NP_001124456.1:p.Gln1890=
NM_001130985.1:c.5698C= NP_001124457.1:p.Gln1900=
NM_001130986.1:c.5605C= NP_001124458.1:p.Gln1869=
NM_001130987.1:c.5761C= NP_001124459.1:p.Gln1921=
NM_003494.3:c.5644C= NP_003485.1:p.Gln1882=
XM_005264584.3:c.5803C= XP_005264641.1:p.Gln1935=
XM_005264585.3:c.5800C= XP_005264642.1:p.Gln1934=
XM_005264584.4:c.5803C= XP_005264641.1:p.Gln1935=
XM_005264585.5:c.5800C= XP_005264642.1:p.Gln1934=
NM_001130987.2:c.5761C= MANE Select NP_001124459.1:p.Gln1921=
NM_001130455.2:c.5647C= NP_001123927.1:p.Gln1883=
NM_001130976.2:c.5602C= NP_001124448.1:p.Gln1868=
NM_001130977.2:c.5665C= NP_001124449.1:p.Gln1889=
NM_001130978.2:c.5707C= NP_001124450.1:p.Gln1903=
NM_001130979.2:c.5737C= NP_001124451.1:p.Gln1913=
NM_001130980.2:c.5695C= NP_001124452.1:p.Gln1899=
NM_001130981.2:c.5758C= NP_001124453.1:p.Gln1920=
NM_001130982.2:c.5740C= NP_001124454.1:p.Gln1914=
NM_001130983.2:c.5710C= NP_001124455.1:p.Gln1904=
NM_001130984.2:c.5668C= NP_001124456.1:p.Gln1890=
NM_001130985.2:c.5698C= NP_001124457.1:p.Gln1900=
NM_001130986.2:c.5605C= NP_001124458.1:p.Gln1869=
NM_003494.4:c.5644C= MANE Plus Clinical NP_003485.1:p.Gln1882=