Canonical Allele Identifier: CA1260152212
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669175G= , CM000664.2:g.71669175G= GRCh38
NC_000002.11:g.71896305G= , CM000664.1:g.71896305G= GRCh37
NC_000002.10:g.71749813G= NCBI36
NG_008694.1:g.220553G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3024G= ENSP00000513536.1:p.Thr1008=
ENST00000698058.1:c.2241G= ENSP00000513537.1:p.Thr747=
ENST00000698059.1:c.2349G= ENSP00000513538.1:p.Thr783=
ENST00000258104.8:c.5493G= MANE Plus Clinical ENSP00000258104.3:p.Thr1831=
ENST00000410020.8:c.5610G= MANE Select ENSP00000386881.3:p.Thr1870=
ENST00000258104.7:c.5493G= ENSP00000258104.3:p.Thr1831=
ENST00000394120.6:c.5496G= ENSP00000377678.2:p.Thr1832=
ENST00000409366.5:c.5559G= ENSP00000386512.1:p.Thr1853=
ENST00000409582.7:c.5607G= ENSP00000386547.3:p.Thr1869=
ENST00000409651.5:c.5589G= ENSP00000386683.1:p.Thr1863=
ENST00000409744.5:c.5517G= ENSP00000386285.1:p.Thr1839=
ENST00000409762.5:c.5544G= ENSP00000387137.1:p.Thr1848=
ENST00000410020.7:c.5610G= ENSP00000386881.3:p.Thr1870=
ENST00000410041.1:c.5547G= ENSP00000386617.1:p.Thr1849=
ENST00000413539.6:c.5586G= ENSP00000407046.2:p.Thr1862=
ENST00000429174.6:c.5556G= ENSP00000398305.2:p.Thr1852=
ENST00000479049.6:n.2378G=
NM_001130455.1:c.5496G= NP_001123927.1:p.Thr1832=
NM_001130976.1:c.5451G= NP_001124448.1:p.Thr1817=
NM_001130977.1:c.5514G= NP_001124449.1:p.Thr1838=
NM_001130978.1:c.5556G= NP_001124450.1:p.Thr1852=
NM_001130979.1:c.5586G= NP_001124451.1:p.Thr1862=
NM_001130980.1:c.5544G= NP_001124452.1:p.Thr1848=
NM_001130981.1:c.5607G= NP_001124453.1:p.Thr1869=
NM_001130982.1:c.5589G= NP_001124454.1:p.Thr1863=
NM_001130983.1:c.5559G= NP_001124455.1:p.Thr1853=
NM_001130984.1:c.5517G= NP_001124456.1:p.Thr1839=
NM_001130985.1:c.5547G= NP_001124457.1:p.Thr1849=
NM_001130986.1:c.5454G= NP_001124458.1:p.Thr1818=
NM_001130987.1:c.5610G= NP_001124459.1:p.Thr1870=
NM_003494.3:c.5493G= NP_003485.1:p.Thr1831=
XM_005264584.3:c.5652G= XP_005264641.1:p.Thr1884=
XM_005264585.3:c.5649G= XP_005264642.1:p.Thr1883=
XM_005264584.4:c.5652G= XP_005264641.1:p.Thr1884=
XM_005264585.5:c.5649G= XP_005264642.1:p.Thr1883=
NM_001130987.2:c.5610G= MANE Select NP_001124459.1:p.Thr1870=
NM_001130455.2:c.5496G= NP_001123927.1:p.Thr1832=
NM_001130976.2:c.5451G= NP_001124448.1:p.Thr1817=
NM_001130977.2:c.5514G= NP_001124449.1:p.Thr1838=
NM_001130978.2:c.5556G= NP_001124450.1:p.Thr1852=
NM_001130979.2:c.5586G= NP_001124451.1:p.Thr1862=
NM_001130980.2:c.5544G= NP_001124452.1:p.Thr1848=
NM_001130981.2:c.5607G= NP_001124453.1:p.Thr1869=
NM_001130982.2:c.5589G= NP_001124454.1:p.Thr1863=
NM_001130983.2:c.5559G= NP_001124455.1:p.Thr1853=
NM_001130984.2:c.5517G= NP_001124456.1:p.Thr1839=
NM_001130985.2:c.5547G= NP_001124457.1:p.Thr1849=
NM_001130986.2:c.5454G= NP_001124458.1:p.Thr1818=
NM_003494.4:c.5493G= MANE Plus Clinical NP_003485.1:p.Thr1831=