Canonical Allele Identifier: CA347223537
Gene: DYSF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669637A>G , CM000664.2:g.71669637A>G GRCh38
NC_000002.11:g.71896767A>G , CM000664.1:g.71896767A>G GRCh37
NC_000002.10:g.71750275A>G NCBI36
NG_008694.1:g.221015A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3089A>G ENSP00000513536.1:p.Lys1030Arg
ENST00000698058.1:c.2306A>G ENSP00000513537.1:p.Lys769Arg
ENST00000698059.1:c.2414A>G ENSP00000513538.1:p.Lys805Arg
ENST00000258104.8:c.5558A>G MANE Plus Clinical ENSP00000258104.3:p.Lys1853Arg
ENST00000410020.8:c.5675A>G MANE Select ENSP00000386881.3:p.Lys1892Arg
ENST00000258104.7:c.5558A>G ENSP00000258104.3:p.Lys1853Arg
ENST00000394120.6:c.5561A>G ENSP00000377678.2:p.Lys1854Arg
ENST00000409366.5:c.5624A>G ENSP00000386512.1:p.Lys1875Arg
ENST00000409582.7:c.5672A>G ENSP00000386547.3:p.Lys1891Arg
ENST00000409651.5:c.5654A>G ENSP00000386683.1:p.Lys1885Arg
ENST00000409744.5:c.5582A>G ENSP00000386285.1:p.Lys1861Arg
ENST00000409762.5:c.5609A>G ENSP00000387137.1:p.Lys1870Arg
ENST00000410020.7:c.5675A>G ENSP00000386881.3:p.Lys1892Arg
ENST00000410041.1:c.5612A>G ENSP00000386617.1:p.Lys1871Arg
ENST00000413539.6:c.5651A>G ENSP00000407046.2:p.Lys1884Arg
ENST00000429174.6:c.5621A>G ENSP00000398305.2:p.Lys1874Arg
ENST00000479049.6:n.2443A>G
NM_001130455.1:c.5561A>G NP_001123927.1:p.Lys1854Arg
NM_001130976.1:c.5516A>G NP_001124448.1:p.Lys1839Arg
NM_001130977.1:c.5579A>G NP_001124449.1:p.Lys1860Arg
NM_001130978.1:c.5621A>G NP_001124450.1:p.Lys1874Arg
NM_001130979.1:c.5651A>G NP_001124451.1:p.Lys1884Arg
NM_001130980.1:c.5609A>G NP_001124452.1:p.Lys1870Arg
NM_001130981.1:c.5672A>G NP_001124453.1:p.Lys1891Arg
NM_001130982.1:c.5654A>G NP_001124454.1:p.Lys1885Arg
NM_001130983.1:c.5624A>G NP_001124455.1:p.Lys1875Arg
NM_001130984.1:c.5582A>G NP_001124456.1:p.Lys1861Arg
NM_001130985.1:c.5612A>G NP_001124457.1:p.Lys1871Arg
NM_001130986.1:c.5519A>G NP_001124458.1:p.Lys1840Arg
NM_001130987.1:c.5675A>G NP_001124459.1:p.Lys1892Arg
NM_003494.3:c.5558A>G NP_003485.1:p.Lys1853Arg
XM_005264584.3:c.5717A>G XP_005264641.1:p.Lys1906Arg
XM_005264585.3:c.5714A>G XP_005264642.1:p.Lys1905Arg
XM_005264584.4:c.5717A>G XP_005264641.1:p.Lys1906Arg
XM_005264585.5:c.5714A>G XP_005264642.1:p.Lys1905Arg
NM_001130987.2:c.5675A>G MANE Select NP_001124459.1:p.Lys1892Arg
NM_001130455.2:c.5561A>G NP_001123927.1:p.Lys1854Arg
NM_001130976.2:c.5516A>G NP_001124448.1:p.Lys1839Arg
NM_001130977.2:c.5579A>G NP_001124449.1:p.Lys1860Arg
NM_001130978.2:c.5621A>G NP_001124450.1:p.Lys1874Arg
NM_001130979.2:c.5651A>G NP_001124451.1:p.Lys1884Arg
NM_001130980.2:c.5609A>G NP_001124452.1:p.Lys1870Arg
NM_001130981.2:c.5672A>G NP_001124453.1:p.Lys1891Arg
NM_001130982.2:c.5654A>G NP_001124454.1:p.Lys1885Arg
NM_001130983.2:c.5624A>G NP_001124455.1:p.Lys1875Arg
NM_001130984.2:c.5582A>G NP_001124456.1:p.Lys1861Arg
NM_001130985.2:c.5612A>G NP_001124457.1:p.Lys1871Arg
NM_001130986.2:c.5519A>G NP_001124458.1:p.Lys1840Arg
NM_003494.4:c.5558A>G MANE Plus Clinical NP_003485.1:p.Lys1853Arg