Canonical Allele Identifier: CA1260158501
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71682597C= , CM000664.2:g.71682597C= GRCh38
NC_000002.11:g.71909727C= , CM000664.1:g.71909727C= GRCh37
NC_000002.10:g.71763235C= NCBI36
NG_008694.1:g.233975C=

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.6241C= MANE Select NP_001124459.1:p.Arg2081=
ENST00000410020.8:c.6241C= MANE Select ENSP00000386881.3:p.Arg2081=
NM_003494.4:c.6124C= MANE Plus Clinical NP_003485.1:p.Arg2042=
ENST00000258104.8:c.6124C= MANE Plus Clinical ENSP00000258104.3:p.Arg2042=
NM_001130455.1:c.6127C= NP_001123927.1:p.Arg2043=
NM_001130455.2:c.6127C= NP_001123927.1:p.Arg2043=
NM_001130976.1:c.6082C= NP_001124448.1:p.Arg2028=
NM_001130976.2:c.6082C= NP_001124448.1:p.Arg2028=
NM_001130977.1:c.6145C= NP_001124449.1:p.Arg2049=
NM_001130977.2:c.6145C= NP_001124449.1:p.Arg2049=
NM_001130978.1:c.6187C= NP_001124450.1:p.Arg2063=
NM_001130978.2:c.6187C= NP_001124450.1:p.Arg2063=
NM_001130979.1:c.6217C= NP_001124451.1:p.Arg2073=
NM_001130979.2:c.6217C= NP_001124451.1:p.Arg2073=
NM_001130980.1:c.6175C= NP_001124452.1:p.Arg2059=
NM_001130980.2:c.6175C= NP_001124452.1:p.Arg2059=
NM_001130981.1:c.6238C= NP_001124453.1:p.Arg2080=
NM_001130981.2:c.6238C= NP_001124453.1:p.Arg2080=
NM_001130982.1:c.6220C= NP_001124454.1:p.Arg2074=
NM_001130982.2:c.6220C= NP_001124454.1:p.Arg2074=
NM_001130983.1:c.6190C= NP_001124455.1:p.Arg2064=
NM_001130983.2:c.6190C= NP_001124455.1:p.Arg2064=
NM_001130984.1:c.6148C= NP_001124456.1:p.Arg2050=
NM_001130984.2:c.6148C= NP_001124456.1:p.Arg2050=
NM_001130985.1:c.6178C= NP_001124457.1:p.Arg2060=
NM_001130985.2:c.6178C= NP_001124457.1:p.Arg2060=
NM_001130986.1:c.6085C= NP_001124458.1:p.Arg2029=
NM_001130986.2:c.6085C= NP_001124458.1:p.Arg2029=
NM_001130987.1:c.6241C= NP_001124459.1:p.Arg2081=
NM_003494.3:c.6124C= NP_003485.1:p.Arg2042=
ENST00000258104.7:c.6124C= ENSP00000258104.3:p.Arg2042=
ENST00000394120.6:c.6127C= ENSP00000377678.2:p.Arg2043=
ENST00000409366.5:c.6190C= ENSP00000386512.1:p.Arg2064=
ENST00000409582.7:c.6238C= ENSP00000386547.3:p.Arg2080=
ENST00000409651.5:c.6220C= ENSP00000386683.1:p.Arg2074=
ENST00000409744.5:c.6148C= ENSP00000386285.1:p.Arg2050=
ENST00000409762.5:c.6175C= ENSP00000387137.1:p.Arg2059=
ENST00000410020.7:c.6241C= ENSP00000386881.3:p.Arg2081=
ENST00000410041.1:c.6178C= ENSP00000386617.1:p.Arg2060=
ENST00000413539.6:c.6217C= ENSP00000407046.2:p.Arg2073=
ENST00000429174.6:c.6187C= ENSP00000398305.2:p.Arg2063=
ENST00000479049.6:n.3009C=
ENST00000698057.1:c.3655C= ENSP00000513536.1:p.Arg1219=
ENST00000698058.1:c.2872C= ENSP00000513537.1:p.Arg958=
ENST00000698059.1:c.2980C= ENSP00000513538.1:p.Arg994=
XM_005264584.3:c.6283C= XP_005264641.1:p.Arg2095=
XM_005264584.4:c.6283C= XP_005264641.1:p.Arg2095=
XM_005264585.3:c.6280C= XP_005264642.1:p.Arg2094=
XM_005264585.5:c.6280C= XP_005264642.1:p.Arg2094=