Canonical Allele Identifier: CA347225184
Gene: DYSF HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5830C>G MANE Select NP_001124459.1:p.Arg1944Gly
ENST00000410020.8:c.5830C>G MANE Select ENSP00000386881.3:p.Arg1944Gly
NM_003494.4:c.5713C>G MANE Plus Clinical NP_003485.1:p.Arg1905Gly
ENST00000258104.8:c.5713C>G MANE Plus Clinical ENSP00000258104.3:p.Arg1905Gly
NM_001130455.1:c.5716C>G NP_001123927.1:p.Arg1906Gly
NM_001130455.2:c.5716C>G NP_001123927.1:p.Arg1906Gly
NM_001130976.1:c.5671C>G NP_001124448.1:p.Arg1891Gly
NM_001130976.2:c.5671C>G NP_001124448.1:p.Arg1891Gly
NM_001130977.1:c.5734C>G NP_001124449.1:p.Arg1912Gly
NM_001130977.2:c.5734C>G NP_001124449.1:p.Arg1912Gly
NM_001130978.1:c.5776C>G NP_001124450.1:p.Arg1926Gly
NM_001130978.2:c.5776C>G NP_001124450.1:p.Arg1926Gly
NM_001130979.1:c.5806C>G NP_001124451.1:p.Arg1936Gly
NM_001130979.2:c.5806C>G NP_001124451.1:p.Arg1936Gly
NM_001130980.1:c.5764C>G NP_001124452.1:p.Arg1922Gly
NM_001130980.2:c.5764C>G NP_001124452.1:p.Arg1922Gly
NM_001130981.1:c.5827C>G NP_001124453.1:p.Arg1943Gly
NM_001130981.2:c.5827C>G NP_001124453.1:p.Arg1943Gly
NM_001130982.1:c.5809C>G NP_001124454.1:p.Arg1937Gly
NM_001130982.2:c.5809C>G NP_001124454.1:p.Arg1937Gly
NM_001130983.1:c.5779C>G NP_001124455.1:p.Arg1927Gly
NM_001130983.2:c.5779C>G NP_001124455.1:p.Arg1927Gly
NM_001130984.1:c.5737C>G NP_001124456.1:p.Arg1913Gly
NM_001130984.2:c.5737C>G NP_001124456.1:p.Arg1913Gly
NM_001130985.1:c.5767C>G NP_001124457.1:p.Arg1923Gly
NM_001130985.2:c.5767C>G NP_001124457.1:p.Arg1923Gly
NM_001130986.1:c.5674C>G NP_001124458.1:p.Arg1892Gly
NM_001130986.2:c.5674C>G NP_001124458.1:p.Arg1892Gly
NM_001130987.1:c.5830C>G NP_001124459.1:p.Arg1944Gly
NM_003494.3:c.5713C>G NP_003485.1:p.Arg1905Gly
ENST00000258104.7:c.5713C>G ENSP00000258104.3:p.Arg1905Gly
ENST00000394120.6:c.5716C>G ENSP00000377678.2:p.Arg1906Gly
ENST00000409366.5:c.5779C>G ENSP00000386512.1:p.Arg1927Gly
ENST00000409582.7:c.5827C>G ENSP00000386547.3:p.Arg1943Gly
ENST00000409651.5:c.5809C>G ENSP00000386683.1:p.Arg1937Gly
ENST00000409744.5:c.5737C>G ENSP00000386285.1:p.Arg1913Gly
ENST00000409762.5:c.5764C>G ENSP00000387137.1:p.Arg1922Gly
ENST00000410020.7:c.5830C>G ENSP00000386881.3:p.Arg1944Gly
ENST00000410041.1:c.5767C>G ENSP00000386617.1:p.Arg1923Gly
ENST00000413539.6:c.5806C>G ENSP00000407046.2:p.Arg1936Gly
ENST00000429174.6:c.5776C>G ENSP00000398305.2:p.Arg1926Gly
ENST00000479049.6:n.2598C>G
ENST00000698057.1:c.3244C>G ENSP00000513536.1:p.Arg1082Gly
ENST00000698058.1:c.2461C>G ENSP00000513537.1:p.Arg821Gly
ENST00000698059.1:c.2569C>G ENSP00000513538.1:p.Arg857Gly
XM_005264584.3:c.5872C>G XP_005264641.1:p.Arg1958Gly
XM_005264584.4:c.5872C>G XP_005264641.1:p.Arg1958Gly
XM_005264585.3:c.5869C>G XP_005264642.1:p.Arg1957Gly
XM_005264585.5:c.5869C>G XP_005264642.1:p.Arg1957Gly