Canonical Allele Identifier: CA347223130
Gene: DYSF HGNC NCBI

Linked Data

gnomAD v4: 2-71669198-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669198A>T , CM000664.2:g.71669198A>T GRCh38
NC_000002.11:g.71896328A>T , CM000664.1:g.71896328A>T GRCh37
NC_000002.10:g.71749836A>T NCBI36
NG_008694.1:g.220576A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3047A>T ENSP00000513536.1:p.Tyr1016Phe
ENST00000698058.1:c.2264A>T ENSP00000513537.1:p.Tyr755Phe
ENST00000698059.1:c.2372A>T ENSP00000513538.1:p.Tyr791Phe
ENST00000258104.8:c.5516A>T MANE Plus Clinical ENSP00000258104.3:p.Tyr1839Phe
ENST00000410020.8:c.5633A>T MANE Select ENSP00000386881.3:p.Tyr1878Phe
ENST00000258104.7:c.5516A>T ENSP00000258104.3:p.Tyr1839Phe
ENST00000394120.6:c.5519A>T ENSP00000377678.2:p.Tyr1840Phe
ENST00000409366.5:c.5582A>T ENSP00000386512.1:p.Tyr1861Phe
ENST00000409582.7:c.5630A>T ENSP00000386547.3:p.Tyr1877Phe
ENST00000409651.5:c.5612A>T ENSP00000386683.1:p.Tyr1871Phe
ENST00000409744.5:c.5540A>T ENSP00000386285.1:p.Tyr1847Phe
ENST00000409762.5:c.5567A>T ENSP00000387137.1:p.Tyr1856Phe
ENST00000410020.7:c.5633A>T ENSP00000386881.3:p.Tyr1878Phe
ENST00000410041.1:c.5570A>T ENSP00000386617.1:p.Tyr1857Phe
ENST00000413539.6:c.5609A>T ENSP00000407046.2:p.Tyr1870Phe
ENST00000429174.6:c.5579A>T ENSP00000398305.2:p.Tyr1860Phe
ENST00000479049.6:n.2401A>T
NM_001130455.1:c.5519A>T NP_001123927.1:p.Tyr1840Phe
NM_001130976.1:c.5474A>T NP_001124448.1:p.Tyr1825Phe
NM_001130977.1:c.5537A>T NP_001124449.1:p.Tyr1846Phe
NM_001130978.1:c.5579A>T NP_001124450.1:p.Tyr1860Phe
NM_001130979.1:c.5609A>T NP_001124451.1:p.Tyr1870Phe
NM_001130980.1:c.5567A>T NP_001124452.1:p.Tyr1856Phe
NM_001130981.1:c.5630A>T NP_001124453.1:p.Tyr1877Phe
NM_001130982.1:c.5612A>T NP_001124454.1:p.Tyr1871Phe
NM_001130983.1:c.5582A>T NP_001124455.1:p.Tyr1861Phe
NM_001130984.1:c.5540A>T NP_001124456.1:p.Tyr1847Phe
NM_001130985.1:c.5570A>T NP_001124457.1:p.Tyr1857Phe
NM_001130986.1:c.5477A>T NP_001124458.1:p.Tyr1826Phe
NM_001130987.1:c.5633A>T NP_001124459.1:p.Tyr1878Phe
NM_003494.3:c.5516A>T NP_003485.1:p.Tyr1839Phe
XM_005264584.3:c.5675A>T XP_005264641.1:p.Tyr1892Phe
XM_005264585.3:c.5672A>T XP_005264642.1:p.Tyr1891Phe
XM_005264584.4:c.5675A>T XP_005264641.1:p.Tyr1892Phe
XM_005264585.5:c.5672A>T XP_005264642.1:p.Tyr1891Phe
NM_001130987.2:c.5633A>T MANE Select NP_001124459.1:p.Tyr1878Phe
NM_001130455.2:c.5519A>T NP_001123927.1:p.Tyr1840Phe
NM_001130976.2:c.5474A>T NP_001124448.1:p.Tyr1825Phe
NM_001130977.2:c.5537A>T NP_001124449.1:p.Tyr1846Phe
NM_001130978.2:c.5579A>T NP_001124450.1:p.Tyr1860Phe
NM_001130979.2:c.5609A>T NP_001124451.1:p.Tyr1870Phe
NM_001130980.2:c.5567A>T NP_001124452.1:p.Tyr1856Phe
NM_001130981.2:c.5630A>T NP_001124453.1:p.Tyr1877Phe
NM_001130982.2:c.5612A>T NP_001124454.1:p.Tyr1871Phe
NM_001130983.2:c.5582A>T NP_001124455.1:p.Tyr1861Phe
NM_001130984.2:c.5540A>T NP_001124456.1:p.Tyr1847Phe
NM_001130985.2:c.5570A>T NP_001124457.1:p.Tyr1857Phe
NM_001130986.2:c.5477A>T NP_001124458.1:p.Tyr1826Phe
NM_003494.4:c.5516A>T MANE Plus Clinical NP_003485.1:p.Tyr1839Phe