Canonical Allele Identifier: CA1260149788
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71664407G= , CM000664.2:g.71664407G= GRCh38
NC_000002.11:g.71891537G= , CM000664.1:g.71891537G= GRCh37
NC_000002.10:g.71745045G= NCBI36
NG_008694.1:g.215785G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.2557G= ENSP00000513536.1:p.Ala853=
ENST00000698058.1:c.1774G= ENSP00000513537.1:p.Ala592=
ENST00000698059.1:c.1882G= ENSP00000513538.1:p.Ala628=
ENST00000258104.8:c.5026G= MANE Plus Clinical ENSP00000258104.3:p.Ala1676=
ENST00000410020.8:c.5143G= MANE Select ENSP00000386881.3:p.Ala1715=
ENST00000258104.7:c.5026G= ENSP00000258104.3:p.Ala1676=
ENST00000394120.6:c.5029G= ENSP00000377678.2:p.Ala1677=
ENST00000409366.5:c.5092G= ENSP00000386512.1:p.Ala1698=
ENST00000409582.7:c.5140G= ENSP00000386547.3:p.Ala1714=
ENST00000409651.5:c.5122G= ENSP00000386683.1:p.Ala1708=
ENST00000409744.5:c.5050G= ENSP00000386285.1:p.Ala1684=
ENST00000409762.5:c.5077G= ENSP00000387137.1:p.Ala1693=
ENST00000410020.7:c.5143G= ENSP00000386881.3:p.Ala1715=
ENST00000410041.1:c.5080G= ENSP00000386617.1:p.Ala1694=
ENST00000413539.6:c.5119G= ENSP00000407046.2:p.Ala1707=
ENST00000429174.6:c.5089G= ENSP00000398305.2:p.Ala1697=
ENST00000479049.6:n.1911G=
NM_001130455.1:c.5029G= NP_001123927.1:p.Ala1677=
NM_001130976.1:c.4984G= NP_001124448.1:p.Ala1662=
NM_001130977.1:c.5047G= NP_001124449.1:p.Ala1683=
NM_001130978.1:c.5089G= NP_001124450.1:p.Ala1697=
NM_001130979.1:c.5119G= NP_001124451.1:p.Ala1707=
NM_001130980.1:c.5077G= NP_001124452.1:p.Ala1693=
NM_001130981.1:c.5140G= NP_001124453.1:p.Ala1714=
NM_001130982.1:c.5122G= NP_001124454.1:p.Ala1708=
NM_001130983.1:c.5092G= NP_001124455.1:p.Ala1698=
NM_001130984.1:c.5050G= NP_001124456.1:p.Ala1684=
NM_001130985.1:c.5080G= NP_001124457.1:p.Ala1694=
NM_001130986.1:c.4987G= NP_001124458.1:p.Ala1663=
NM_001130987.1:c.5143G= NP_001124459.1:p.Ala1715=
NM_003494.3:c.5026G= NP_003485.1:p.Ala1676=
XM_005264584.3:c.5185G= XP_005264641.1:p.Ala1729=
XM_005264585.3:c.5182G= XP_005264642.1:p.Ala1728=
XM_005264584.4:c.5185G= XP_005264641.1:p.Ala1729=
XM_005264585.5:c.5182G= XP_005264642.1:p.Ala1728=
XR_001738969.1:n.5343G=
NM_001130987.2:c.5143G= MANE Select NP_001124459.1:p.Ala1715=
NM_001130455.2:c.5029G= NP_001123927.1:p.Ala1677=
NM_001130976.2:c.4984G= NP_001124448.1:p.Ala1662=
NM_001130977.2:c.5047G= NP_001124449.1:p.Ala1683=
NM_001130978.2:c.5089G= NP_001124450.1:p.Ala1697=
NM_001130979.2:c.5119G= NP_001124451.1:p.Ala1707=
NM_001130980.2:c.5077G= NP_001124452.1:p.Ala1693=
NM_001130981.2:c.5140G= NP_001124453.1:p.Ala1714=
NM_001130982.2:c.5122G= NP_001124454.1:p.Ala1708=
NM_001130983.2:c.5092G= NP_001124455.1:p.Ala1698=
NM_001130984.2:c.5050G= NP_001124456.1:p.Ala1684=
NM_001130985.2:c.5080G= NP_001124457.1:p.Ala1694=
NM_001130986.2:c.4987G= NP_001124458.1:p.Ala1663=
NM_003494.4:c.5026G= MANE Plus Clinical NP_003485.1:p.Ala1676=