Canonical Allele Identifier: CA1260154640
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71674242C= , CM000664.2:g.71674242C= GRCh38
NC_000002.11:g.71901372C= , CM000664.1:g.71901372C= GRCh37
NC_000002.10:g.71754880C= NCBI36
NG_008694.1:g.225620C=

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5830C= MANE Select NP_001124459.1:p.Arg1944=
ENST00000410020.8:c.5830C= MANE Select ENSP00000386881.3:p.Arg1944=
NM_003494.4:c.5713C= MANE Plus Clinical NP_003485.1:p.Arg1905=
ENST00000258104.8:c.5713C= MANE Plus Clinical ENSP00000258104.3:p.Arg1905=
NM_001130455.1:c.5716C= NP_001123927.1:p.Arg1906=
NM_001130455.2:c.5716C= NP_001123927.1:p.Arg1906=
NM_001130976.1:c.5671C= NP_001124448.1:p.Arg1891=
NM_001130976.2:c.5671C= NP_001124448.1:p.Arg1891=
NM_001130977.1:c.5734C= NP_001124449.1:p.Arg1912=
NM_001130977.2:c.5734C= NP_001124449.1:p.Arg1912=
NM_001130978.1:c.5776C= NP_001124450.1:p.Arg1926=
NM_001130978.2:c.5776C= NP_001124450.1:p.Arg1926=
NM_001130979.1:c.5806C= NP_001124451.1:p.Arg1936=
NM_001130979.2:c.5806C= NP_001124451.1:p.Arg1936=
NM_001130980.1:c.5764C= NP_001124452.1:p.Arg1922=
NM_001130980.2:c.5764C= NP_001124452.1:p.Arg1922=
NM_001130981.1:c.5827C= NP_001124453.1:p.Arg1943=
NM_001130981.2:c.5827C= NP_001124453.1:p.Arg1943=
NM_001130982.1:c.5809C= NP_001124454.1:p.Arg1937=
NM_001130982.2:c.5809C= NP_001124454.1:p.Arg1937=
NM_001130983.1:c.5779C= NP_001124455.1:p.Arg1927=
NM_001130983.2:c.5779C= NP_001124455.1:p.Arg1927=
NM_001130984.1:c.5737C= NP_001124456.1:p.Arg1913=
NM_001130984.2:c.5737C= NP_001124456.1:p.Arg1913=
NM_001130985.1:c.5767C= NP_001124457.1:p.Arg1923=
NM_001130985.2:c.5767C= NP_001124457.1:p.Arg1923=
NM_001130986.1:c.5674C= NP_001124458.1:p.Arg1892=
NM_001130986.2:c.5674C= NP_001124458.1:p.Arg1892=
NM_001130987.1:c.5830C= NP_001124459.1:p.Arg1944=
NM_003494.3:c.5713C= NP_003485.1:p.Arg1905=
ENST00000258104.7:c.5713C= ENSP00000258104.3:p.Arg1905=
ENST00000394120.6:c.5716C= ENSP00000377678.2:p.Arg1906=
ENST00000409366.5:c.5779C= ENSP00000386512.1:p.Arg1927=
ENST00000409582.7:c.5827C= ENSP00000386547.3:p.Arg1943=
ENST00000409651.5:c.5809C= ENSP00000386683.1:p.Arg1937=
ENST00000409744.5:c.5737C= ENSP00000386285.1:p.Arg1913=
ENST00000409762.5:c.5764C= ENSP00000387137.1:p.Arg1922=
ENST00000410020.7:c.5830C= ENSP00000386881.3:p.Arg1944=
ENST00000410041.1:c.5767C= ENSP00000386617.1:p.Arg1923=
ENST00000413539.6:c.5806C= ENSP00000407046.2:p.Arg1936=
ENST00000429174.6:c.5776C= ENSP00000398305.2:p.Arg1926=
ENST00000479049.6:n.2598C=
ENST00000698057.1:c.3244C= ENSP00000513536.1:p.Arg1082=
ENST00000698058.1:c.2461C= ENSP00000513537.1:p.Arg821=
ENST00000698059.1:c.2569C= ENSP00000513538.1:p.Arg857=
XM_005264584.3:c.5872C= XP_005264641.1:p.Arg1958=
XM_005264584.4:c.5872C= XP_005264641.1:p.Arg1958=
XM_005264585.3:c.5869C= XP_005264642.1:p.Arg1957=
XM_005264585.5:c.5869C= XP_005264642.1:p.Arg1957=