Canonical Allele Identifier: CA1260157775
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71681053G= , CM000664.2:g.71681053G= GRCh38
NC_000002.11:g.71908183G= , CM000664.1:g.71908183G= GRCh37
NC_000002.10:g.71761691G= NCBI36
NG_008694.1:g.232431G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3530G= ENSP00000513536.1:p.Arg1177=
ENST00000698058.1:c.2747G= ENSP00000513537.1:p.Arg916=
ENST00000698059.1:c.2855G= ENSP00000513538.1:p.Arg952=
ENST00000258104.8:c.5999G= MANE Plus Clinical ENSP00000258104.3:p.Arg2000=
ENST00000410020.8:c.6116G= MANE Select ENSP00000386881.3:p.Arg2039=
ENST00000258104.7:c.5999G= ENSP00000258104.3:p.Arg2000=
ENST00000394120.6:c.6002G= ENSP00000377678.2:p.Arg2001=
ENST00000409366.5:c.6065G= ENSP00000386512.1:p.Arg2022=
ENST00000409582.7:c.6113G= ENSP00000386547.3:p.Arg2038=
ENST00000409651.5:c.6095G= ENSP00000386683.1:p.Arg2032=
ENST00000409744.5:c.6023G= ENSP00000386285.1:p.Arg2008=
ENST00000409762.5:c.6050G= ENSP00000387137.1:p.Arg2017=
ENST00000410020.7:c.6116G= ENSP00000386881.3:p.Arg2039=
ENST00000410041.1:c.6053G= ENSP00000386617.1:p.Arg2018=
ENST00000413539.6:c.6092G= ENSP00000407046.2:p.Arg2031=
ENST00000429174.6:c.6062G= ENSP00000398305.2:p.Arg2021=
ENST00000479049.6:n.2884G=
NM_001130455.1:c.6002G= NP_001123927.1:p.Arg2001=
NM_001130976.1:c.5957G= NP_001124448.1:p.Arg1986=
NM_001130977.1:c.6020G= NP_001124449.1:p.Arg2007=
NM_001130978.1:c.6062G= NP_001124450.1:p.Arg2021=
NM_001130979.1:c.6092G= NP_001124451.1:p.Arg2031=
NM_001130980.1:c.6050G= NP_001124452.1:p.Arg2017=
NM_001130981.1:c.6113G= NP_001124453.1:p.Arg2038=
NM_001130982.1:c.6095G= NP_001124454.1:p.Arg2032=
NM_001130983.1:c.6065G= NP_001124455.1:p.Arg2022=
NM_001130984.1:c.6023G= NP_001124456.1:p.Arg2008=
NM_001130985.1:c.6053G= NP_001124457.1:p.Arg2018=
NM_001130986.1:c.5960G= NP_001124458.1:p.Arg1987=
NM_001130987.1:c.6116G= NP_001124459.1:p.Arg2039=
NM_003494.3:c.5999G= NP_003485.1:p.Arg2000=
XM_005264584.3:c.6158G= XP_005264641.1:p.Arg2053=
XM_005264585.3:c.6155G= XP_005264642.1:p.Arg2052=
XM_005264584.4:c.6158G= XP_005264641.1:p.Arg2053=
XM_005264585.5:c.6155G= XP_005264642.1:p.Arg2052=
NM_001130987.2:c.6116G= MANE Select NP_001124459.1:p.Arg2039=
NM_001130455.2:c.6002G= NP_001123927.1:p.Arg2001=
NM_001130976.2:c.5957G= NP_001124448.1:p.Arg1986=
NM_001130977.2:c.6020G= NP_001124449.1:p.Arg2007=
NM_001130978.2:c.6062G= NP_001124450.1:p.Arg2021=
NM_001130979.2:c.6092G= NP_001124451.1:p.Arg2031=
NM_001130980.2:c.6050G= NP_001124452.1:p.Arg2017=
NM_001130981.2:c.6113G= NP_001124453.1:p.Arg2038=
NM_001130982.2:c.6095G= NP_001124454.1:p.Arg2032=
NM_001130983.2:c.6065G= NP_001124455.1:p.Arg2022=
NM_001130984.2:c.6023G= NP_001124456.1:p.Arg2008=
NM_001130985.2:c.6053G= NP_001124457.1:p.Arg2018=
NM_001130986.2:c.5960G= NP_001124458.1:p.Arg1987=
NM_003494.4:c.5999G= MANE Plus Clinical NP_003485.1:p.Arg2000=