Canonical Allele Identifier: CA1260124200
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71611623A= , CM000664.2:g.71611623A= GRCh38
NC_000002.11:g.71838753A= , CM000664.1:g.71838753A= GRCh37
NC_000002.10:g.71692261A= NCBI36
NG_008694.1:g.163001A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1632A= ENSP00000513536.1:p.Glu544=
ENST00000698058.1:c.849A= ENSP00000513537.1:p.Glu283=
ENST00000698059.1:c.807A= ENSP00000513538.1:p.Glu269=
ENST00000258104.8:c.4164A= MANE Plus Clinical ENSP00000258104.3:p.Glu1388=
ENST00000410020.8:c.4218A= MANE Select ENSP00000386881.3:p.Glu1406=
ENST00000258104.7:c.4164A= ENSP00000258104.3:p.Glu1388=
ENST00000394120.6:c.4167A= ENSP00000377678.2:p.Glu1389=
ENST00000409366.5:c.4167A= ENSP00000386512.1:p.Glu1389=
ENST00000409582.7:c.4215A= ENSP00000386547.3:p.Glu1405=
ENST00000409651.5:c.4260A= ENSP00000386683.1:p.Glu1420=
ENST00000409744.5:c.4125A= ENSP00000386285.1:p.Glu1375=
ENST00000409762.5:c.4215A= ENSP00000387137.1:p.Glu1405=
ENST00000410020.7:c.4218A= ENSP00000386881.3:p.Glu1406=
ENST00000410041.1:c.4218A= ENSP00000386617.1:p.Glu1406=
ENST00000413539.6:c.4257A= ENSP00000407046.2:p.Glu1419=
ENST00000429174.6:c.4164A= ENSP00000398305.2:p.Glu1388=
ENST00000468173.1:n.400A=
ENST00000472873.5:n.548A=
ENST00000479049.6:n.1049A=
ENST00000487180.5:n.383A=
ENST00000494501.5:n.462A=
NM_001130455.1:c.4167A= NP_001123927.1:p.Glu1389=
NM_001130976.1:c.4122A= NP_001124448.1:p.Glu1374=
NM_001130977.1:c.4122A= NP_001124449.1:p.Glu1374=
NM_001130978.1:c.4164A= NP_001124450.1:p.Glu1388=
NM_001130979.1:c.4257A= NP_001124451.1:p.Glu1419=
NM_001130980.1:c.4215A= NP_001124452.1:p.Glu1405=
NM_001130981.1:c.4215A= NP_001124453.1:p.Glu1405=
NM_001130982.1:c.4260A= NP_001124454.1:p.Glu1420=
NM_001130983.1:c.4167A= NP_001124455.1:p.Glu1389=
NM_001130984.1:c.4125A= NP_001124456.1:p.Glu1375=
NM_001130985.1:c.4218A= NP_001124457.1:p.Glu1406=
NM_001130986.1:c.4125A= NP_001124458.1:p.Glu1375=
NM_001130987.1:c.4218A= NP_001124459.1:p.Glu1406=
NM_003494.3:c.4164A= NP_003485.1:p.Glu1388=
XM_005264584.3:c.4260A= XP_005264641.1:p.Glu1420=
XM_005264585.3:c.4257A= XP_005264642.1:p.Glu1419=
XM_005264584.4:c.4260A= XP_005264641.1:p.Glu1420=
XM_005264585.5:c.4257A= XP_005264642.1:p.Glu1419=
XR_001738969.1:n.4418A=
NM_001130987.2:c.4218A= MANE Select NP_001124459.1:p.Glu1406=
NM_001130455.2:c.4167A= NP_001123927.1:p.Glu1389=
NM_001130976.2:c.4122A= NP_001124448.1:p.Glu1374=
NM_001130977.2:c.4122A= NP_001124449.1:p.Glu1374=
NM_001130978.2:c.4164A= NP_001124450.1:p.Glu1388=
NM_001130979.2:c.4257A= NP_001124451.1:p.Glu1419=
NM_001130980.2:c.4215A= NP_001124452.1:p.Glu1405=
NM_001130981.2:c.4215A= NP_001124453.1:p.Glu1405=
NM_001130982.2:c.4260A= NP_001124454.1:p.Glu1420=
NM_001130983.2:c.4167A= NP_001124455.1:p.Glu1389=
NM_001130984.2:c.4125A= NP_001124456.1:p.Glu1375=
NM_001130985.2:c.4218A= NP_001124457.1:p.Glu1406=
NM_001130986.2:c.4125A= NP_001124458.1:p.Glu1375=
NM_003494.4:c.4164A= MANE Plus Clinical NP_003485.1:p.Glu1388=