Canonical Allele Identifier: CA1260140075
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71643991C= , CM000664.2:g.71643991C= GRCh38
NC_000002.11:g.71871121C= , CM000664.1:g.71871121C= GRCh37
NC_000002.10:g.71724629C= NCBI36
NG_008694.1:g.195369C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1968C= ENSP00000513536.1:p.Ser656=
ENST00000698058.1:c.1185C= ENSP00000513537.1:p.Ser395=
ENST00000698059.1:c.1293C= ENSP00000513538.1:p.Ser431=
ENST00000258104.8:c.4437C= MANE Plus Clinical ENSP00000258104.3:p.Ser1479=
ENST00000410020.8:c.4554C= MANE Select ENSP00000386881.3:p.Ser1518=
ENST00000258104.7:c.4437C= ENSP00000258104.3:p.Ser1479=
ENST00000394120.6:c.4440C= ENSP00000377678.2:p.Ser1480=
ENST00000409366.5:c.4503C= ENSP00000386512.1:p.Ser1501=
ENST00000409582.7:c.4551C= ENSP00000386547.3:p.Ser1517=
ENST00000409651.5:c.4533C= ENSP00000386683.1:p.Ser1511=
ENST00000409744.5:c.4461C= ENSP00000386285.1:p.Ser1487=
ENST00000409762.5:c.4488C= ENSP00000387137.1:p.Ser1496=
ENST00000410020.7:c.4554C= ENSP00000386881.3:p.Ser1518=
ENST00000410041.1:c.4491C= ENSP00000386617.1:p.Ser1497=
ENST00000413539.6:c.4530C= ENSP00000407046.2:p.Ser1510=
ENST00000429174.6:c.4500C= ENSP00000398305.2:p.Ser1500=
ENST00000468173.1:n.736C=
ENST00000479049.6:n.1322C=
NM_001130455.1:c.4440C= NP_001123927.1:p.Ser1480=
NM_001130976.1:c.4395C= NP_001124448.1:p.Ser1465=
NM_001130977.1:c.4458C= NP_001124449.1:p.Ser1486=
NM_001130978.1:c.4500C= NP_001124450.1:p.Ser1500=
NM_001130979.1:c.4530C= NP_001124451.1:p.Ser1510=
NM_001130980.1:c.4488C= NP_001124452.1:p.Ser1496=
NM_001130981.1:c.4551C= NP_001124453.1:p.Ser1517=
NM_001130982.1:c.4533C= NP_001124454.1:p.Ser1511=
NM_001130983.1:c.4503C= NP_001124455.1:p.Ser1501=
NM_001130984.1:c.4461C= NP_001124456.1:p.Ser1487=
NM_001130985.1:c.4491C= NP_001124457.1:p.Ser1497=
NM_001130986.1:c.4398C= NP_001124458.1:p.Ser1466=
NM_001130987.1:c.4554C= NP_001124459.1:p.Ser1518=
NM_003494.3:c.4437C= NP_003485.1:p.Ser1479=
XM_005264584.3:c.4596C= XP_005264641.1:p.Ser1532=
XM_005264585.3:c.4593C= XP_005264642.1:p.Ser1531=
XM_005264584.4:c.4596C= XP_005264641.1:p.Ser1532=
XM_005264585.5:c.4593C= XP_005264642.1:p.Ser1531=
XR_001738969.1:n.4754C=
NM_001130987.2:c.4554C= MANE Select NP_001124459.1:p.Ser1518=
NM_001130455.2:c.4440C= NP_001123927.1:p.Ser1480=
NM_001130976.2:c.4395C= NP_001124448.1:p.Ser1465=
NM_001130977.2:c.4458C= NP_001124449.1:p.Ser1486=
NM_001130978.2:c.4500C= NP_001124450.1:p.Ser1500=
NM_001130979.2:c.4530C= NP_001124451.1:p.Ser1510=
NM_001130980.2:c.4488C= NP_001124452.1:p.Ser1496=
NM_001130981.2:c.4551C= NP_001124453.1:p.Ser1517=
NM_001130982.2:c.4533C= NP_001124454.1:p.Ser1511=
NM_001130983.2:c.4503C= NP_001124455.1:p.Ser1501=
NM_001130984.2:c.4461C= NP_001124456.1:p.Ser1487=
NM_001130985.2:c.4491C= NP_001124457.1:p.Ser1497=
NM_001130986.2:c.4398C= NP_001124458.1:p.Ser1466=
NM_003494.4:c.4437C= MANE Plus Clinical NP_003485.1:p.Ser1479=