Canonical Allele Identifier: CA347223025
Gene: DYSF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669183A>C , CM000664.2:g.71669183A>C GRCh38
NC_000002.11:g.71896313A>C , CM000664.1:g.71896313A>C GRCh37
NC_000002.10:g.71749821A>C NCBI36
NG_008694.1:g.220561A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3032A>C ENSP00000513536.1:p.Lys1011Thr
ENST00000698058.1:c.2249A>C ENSP00000513537.1:p.Lys750Thr
ENST00000698059.1:c.2357A>C ENSP00000513538.1:p.Lys786Thr
ENST00000258104.8:c.5501A>C MANE Plus Clinical ENSP00000258104.3:p.Lys1834Thr
ENST00000410020.8:c.5618A>C MANE Select ENSP00000386881.3:p.Lys1873Thr
ENST00000258104.7:c.5501A>C ENSP00000258104.3:p.Lys1834Thr
ENST00000394120.6:c.5504A>C ENSP00000377678.2:p.Lys1835Thr
ENST00000409366.5:c.5567A>C ENSP00000386512.1:p.Lys1856Thr
ENST00000409582.7:c.5615A>C ENSP00000386547.3:p.Lys1872Thr
ENST00000409651.5:c.5597A>C ENSP00000386683.1:p.Lys1866Thr
ENST00000409744.5:c.5525A>C ENSP00000386285.1:p.Lys1842Thr
ENST00000409762.5:c.5552A>C ENSP00000387137.1:p.Lys1851Thr
ENST00000410020.7:c.5618A>C ENSP00000386881.3:p.Lys1873Thr
ENST00000410041.1:c.5555A>C ENSP00000386617.1:p.Lys1852Thr
ENST00000413539.6:c.5594A>C ENSP00000407046.2:p.Lys1865Thr
ENST00000429174.6:c.5564A>C ENSP00000398305.2:p.Lys1855Thr
ENST00000479049.6:n.2386A>C
NM_001130455.1:c.5504A>C NP_001123927.1:p.Lys1835Thr
NM_001130976.1:c.5459A>C NP_001124448.1:p.Lys1820Thr
NM_001130977.1:c.5522A>C NP_001124449.1:p.Lys1841Thr
NM_001130978.1:c.5564A>C NP_001124450.1:p.Lys1855Thr
NM_001130979.1:c.5594A>C NP_001124451.1:p.Lys1865Thr
NM_001130980.1:c.5552A>C NP_001124452.1:p.Lys1851Thr
NM_001130981.1:c.5615A>C NP_001124453.1:p.Lys1872Thr
NM_001130982.1:c.5597A>C NP_001124454.1:p.Lys1866Thr
NM_001130983.1:c.5567A>C NP_001124455.1:p.Lys1856Thr
NM_001130984.1:c.5525A>C NP_001124456.1:p.Lys1842Thr
NM_001130985.1:c.5555A>C NP_001124457.1:p.Lys1852Thr
NM_001130986.1:c.5462A>C NP_001124458.1:p.Lys1821Thr
NM_001130987.1:c.5618A>C NP_001124459.1:p.Lys1873Thr
NM_003494.3:c.5501A>C NP_003485.1:p.Lys1834Thr
XM_005264584.3:c.5660A>C XP_005264641.1:p.Lys1887Thr
XM_005264585.3:c.5657A>C XP_005264642.1:p.Lys1886Thr
XM_005264584.4:c.5660A>C XP_005264641.1:p.Lys1887Thr
XM_005264585.5:c.5657A>C XP_005264642.1:p.Lys1886Thr
NM_001130987.2:c.5618A>C MANE Select NP_001124459.1:p.Lys1873Thr
NM_001130455.2:c.5504A>C NP_001123927.1:p.Lys1835Thr
NM_001130976.2:c.5459A>C NP_001124448.1:p.Lys1820Thr
NM_001130977.2:c.5522A>C NP_001124449.1:p.Lys1841Thr
NM_001130978.2:c.5564A>C NP_001124450.1:p.Lys1855Thr
NM_001130979.2:c.5594A>C NP_001124451.1:p.Lys1865Thr
NM_001130980.2:c.5552A>C NP_001124452.1:p.Lys1851Thr
NM_001130981.2:c.5615A>C NP_001124453.1:p.Lys1872Thr
NM_001130982.2:c.5597A>C NP_001124454.1:p.Lys1866Thr
NM_001130983.2:c.5567A>C NP_001124455.1:p.Lys1856Thr
NM_001130984.2:c.5525A>C NP_001124456.1:p.Lys1842Thr
NM_001130985.2:c.5555A>C NP_001124457.1:p.Lys1852Thr
NM_001130986.2:c.5462A>C NP_001124458.1:p.Lys1821Thr
NM_003494.4:c.5501A>C MANE Plus Clinical NP_003485.1:p.Lys1834Thr