Canonical Allele Identifier: CA1260152227
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669203A= , CM000664.2:g.71669203A= GRCh38
NC_000002.11:g.71896333A= , CM000664.1:g.71896333A= GRCh37
NC_000002.10:g.71749841A= NCBI36
NG_008694.1:g.220581A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3052A= ENSP00000513536.1:p.Lys1018=
ENST00000698058.1:c.2269A= ENSP00000513537.1:p.Lys757=
ENST00000698059.1:c.2377A= ENSP00000513538.1:p.Lys793=
ENST00000258104.8:c.5521A= MANE Plus Clinical ENSP00000258104.3:p.Lys1841=
ENST00000410020.8:c.5638A= MANE Select ENSP00000386881.3:p.Lys1880=
ENST00000258104.7:c.5521A= ENSP00000258104.3:p.Lys1841=
ENST00000394120.6:c.5524A= ENSP00000377678.2:p.Lys1842=
ENST00000409366.5:c.5587A= ENSP00000386512.1:p.Lys1863=
ENST00000409582.7:c.5635A= ENSP00000386547.3:p.Lys1879=
ENST00000409651.5:c.5617A= ENSP00000386683.1:p.Lys1873=
ENST00000409744.5:c.5545A= ENSP00000386285.1:p.Lys1849=
ENST00000409762.5:c.5572A= ENSP00000387137.1:p.Lys1858=
ENST00000410020.7:c.5638A= ENSP00000386881.3:p.Lys1880=
ENST00000410041.1:c.5575A= ENSP00000386617.1:p.Lys1859=
ENST00000413539.6:c.5614A= ENSP00000407046.2:p.Lys1872=
ENST00000429174.6:c.5584A= ENSP00000398305.2:p.Lys1862=
ENST00000479049.6:n.2406A=
NM_001130455.1:c.5524A= NP_001123927.1:p.Lys1842=
NM_001130976.1:c.5479A= NP_001124448.1:p.Lys1827=
NM_001130977.1:c.5542A= NP_001124449.1:p.Lys1848=
NM_001130978.1:c.5584A= NP_001124450.1:p.Lys1862=
NM_001130979.1:c.5614A= NP_001124451.1:p.Lys1872=
NM_001130980.1:c.5572A= NP_001124452.1:p.Lys1858=
NM_001130981.1:c.5635A= NP_001124453.1:p.Lys1879=
NM_001130982.1:c.5617A= NP_001124454.1:p.Lys1873=
NM_001130983.1:c.5587A= NP_001124455.1:p.Lys1863=
NM_001130984.1:c.5545A= NP_001124456.1:p.Lys1849=
NM_001130985.1:c.5575A= NP_001124457.1:p.Lys1859=
NM_001130986.1:c.5482A= NP_001124458.1:p.Lys1828=
NM_001130987.1:c.5638A= NP_001124459.1:p.Lys1880=
NM_003494.3:c.5521A= NP_003485.1:p.Lys1841=
XM_005264584.3:c.5680A= XP_005264641.1:p.Lys1894=
XM_005264585.3:c.5677A= XP_005264642.1:p.Lys1893=
XM_005264584.4:c.5680A= XP_005264641.1:p.Lys1894=
XM_005264585.5:c.5677A= XP_005264642.1:p.Lys1893=
NM_001130987.2:c.5638A= MANE Select NP_001124459.1:p.Lys1880=
NM_001130455.2:c.5524A= NP_001123927.1:p.Lys1842=
NM_001130976.2:c.5479A= NP_001124448.1:p.Lys1827=
NM_001130977.2:c.5542A= NP_001124449.1:p.Lys1848=
NM_001130978.2:c.5584A= NP_001124450.1:p.Lys1862=
NM_001130979.2:c.5614A= NP_001124451.1:p.Lys1872=
NM_001130980.2:c.5572A= NP_001124452.1:p.Lys1858=
NM_001130981.2:c.5635A= NP_001124453.1:p.Lys1879=
NM_001130982.2:c.5617A= NP_001124454.1:p.Lys1873=
NM_001130983.2:c.5587A= NP_001124455.1:p.Lys1863=
NM_001130984.2:c.5545A= NP_001124456.1:p.Lys1849=
NM_001130985.2:c.5575A= NP_001124457.1:p.Lys1859=
NM_001130986.2:c.5482A= NP_001124458.1:p.Lys1828=
NM_003494.4:c.5521A= MANE Plus Clinical NP_003485.1:p.Lys1841=