Canonical Allele Identifier: CA253911
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6678
ClinVar RCV Id: RCV000007065
dbSNP Id: rs121908961

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71667376A>G , CM000664.2:g.71667376A>G GRCh38
NC_000002.11:g.71894506A>G , CM000664.1:g.71894506A>G GRCh37
NC_000002.10:g.71748014A>G NCBI36
NG_008694.1:g.218754A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698057.1:c.2732A>G ENSP00000513536.1:p.Glu911Gly
ENST00000698058.1:c.1949A>G ENSP00000513537.1:p.Glu650Gly
ENST00000698059.1:c.2057A>G ENSP00000513538.1:p.Glu686Gly
ENST00000258104.8:c.5201A>G MANE Plus Clinical ENSP00000258104.3:p.Glu1734Gly
ENST00000410020.8:c.5318A>G MANE Select ENSP00000386881.3:p.Glu1773Gly
ENST00000258104.7:c.5201A>G ENSP00000258104.3:p.Glu1734Gly
ENST00000394120.6:c.5204A>G ENSP00000377678.2:p.Glu1735Gly
ENST00000409366.5:c.5267A>G ENSP00000386512.1:p.Glu1756Gly
ENST00000409582.7:c.5315A>G ENSP00000386547.3:p.Glu1772Gly
ENST00000409651.5:c.5297A>G ENSP00000386683.1:p.Glu1766Gly
ENST00000409744.5:c.5225A>G ENSP00000386285.1:p.Glu1742Gly
ENST00000409762.5:c.5252A>G ENSP00000387137.1:p.Glu1751Gly
ENST00000410020.7:c.5318A>G ENSP00000386881.3:p.Glu1773Gly
ENST00000410041.1:c.5255A>G ENSP00000386617.1:p.Glu1752Gly
ENST00000413539.6:c.5294A>G ENSP00000407046.2:p.Glu1765Gly
ENST00000429174.6:c.5264A>G ENSP00000398305.2:p.Glu1755Gly
ENST00000479049.6:n.2086A>G
NM_001130455.1:c.5204A>G NP_001123927.1:p.Glu1735Gly
NM_001130976.1:c.5159A>G NP_001124448.1:p.Glu1720Gly
NM_001130977.1:c.5222A>G NP_001124449.1:p.Glu1741Gly
NM_001130978.1:c.5264A>G NP_001124450.1:p.Glu1755Gly
NM_001130979.1:c.5294A>G NP_001124451.1:p.Glu1765Gly
NM_001130980.1:c.5252A>G NP_001124452.1:p.Glu1751Gly
NM_001130981.1:c.5315A>G NP_001124453.1:p.Glu1772Gly
NM_001130982.1:c.5297A>G NP_001124454.1:p.Glu1766Gly
NM_001130983.1:c.5267A>G NP_001124455.1:p.Glu1756Gly
NM_001130984.1:c.5225A>G NP_001124456.1:p.Glu1742Gly
NM_001130985.1:c.5255A>G NP_001124457.1:p.Glu1752Gly
NM_001130986.1:c.5162A>G NP_001124458.1:p.Glu1721Gly
NM_001130987.1:c.5318A>G NP_001124459.1:p.Glu1773Gly
NM_003494.3:c.5201A>G NP_003485.1:p.Glu1734Gly
XM_005264584.3:c.5360A>G XP_005264641.1:p.Glu1787Gly
XM_005264585.3:c.5357A>G XP_005264642.1:p.Glu1786Gly
XM_005264584.4:c.5360A>G XP_005264641.1:p.Glu1787Gly
XM_005264585.5:c.5357A>G XP_005264642.1:p.Glu1786Gly
NM_001130987.2:c.5318A>G MANE Select NP_001124459.1:p.Glu1773Gly
NM_001130455.2:c.5204A>G NP_001123927.1:p.Glu1735Gly
NM_001130976.2:c.5159A>G NP_001124448.1:p.Glu1720Gly
NM_001130977.2:c.5222A>G NP_001124449.1:p.Glu1741Gly
NM_001130978.2:c.5264A>G NP_001124450.1:p.Glu1755Gly
NM_001130979.2:c.5294A>G NP_001124451.1:p.Glu1765Gly
NM_001130980.2:c.5252A>G NP_001124452.1:p.Glu1751Gly
NM_001130981.2:c.5315A>G NP_001124453.1:p.Glu1772Gly
NM_001130982.2:c.5297A>G NP_001124454.1:p.Glu1766Gly
NM_001130983.2:c.5267A>G NP_001124455.1:p.Glu1756Gly
NM_001130984.2:c.5225A>G NP_001124456.1:p.Glu1742Gly
NM_001130985.2:c.5255A>G NP_001124457.1:p.Glu1752Gly
NM_001130986.2:c.5162A>G NP_001124458.1:p.Glu1721Gly
NM_003494.4:c.5201A>G MANE Plus Clinical NP_003485.1:p.Glu1734Gly