Canonical Allele Identifier: CA1260152217
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669182A= , CM000664.2:g.71669182A= GRCh38
NC_000002.11:g.71896312A= , CM000664.1:g.71896312A= GRCh37
NC_000002.10:g.71749820A= NCBI36
NG_008694.1:g.220560A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3031A= ENSP00000513536.1:p.Lys1011=
ENST00000698058.1:c.2248A= ENSP00000513537.1:p.Lys750=
ENST00000698059.1:c.2356A= ENSP00000513538.1:p.Lys786=
ENST00000258104.8:c.5500A= MANE Plus Clinical ENSP00000258104.3:p.Lys1834=
ENST00000410020.8:c.5617A= MANE Select ENSP00000386881.3:p.Lys1873=
ENST00000258104.7:c.5500A= ENSP00000258104.3:p.Lys1834=
ENST00000394120.6:c.5503A= ENSP00000377678.2:p.Lys1835=
ENST00000409366.5:c.5566A= ENSP00000386512.1:p.Lys1856=
ENST00000409582.7:c.5614A= ENSP00000386547.3:p.Lys1872=
ENST00000409651.5:c.5596A= ENSP00000386683.1:p.Lys1866=
ENST00000409744.5:c.5524A= ENSP00000386285.1:p.Lys1842=
ENST00000409762.5:c.5551A= ENSP00000387137.1:p.Lys1851=
ENST00000410020.7:c.5617A= ENSP00000386881.3:p.Lys1873=
ENST00000410041.1:c.5554A= ENSP00000386617.1:p.Lys1852=
ENST00000413539.6:c.5593A= ENSP00000407046.2:p.Lys1865=
ENST00000429174.6:c.5563A= ENSP00000398305.2:p.Lys1855=
ENST00000479049.6:n.2385A=
NM_001130455.1:c.5503A= NP_001123927.1:p.Lys1835=
NM_001130976.1:c.5458A= NP_001124448.1:p.Lys1820=
NM_001130977.1:c.5521A= NP_001124449.1:p.Lys1841=
NM_001130978.1:c.5563A= NP_001124450.1:p.Lys1855=
NM_001130979.1:c.5593A= NP_001124451.1:p.Lys1865=
NM_001130980.1:c.5551A= NP_001124452.1:p.Lys1851=
NM_001130981.1:c.5614A= NP_001124453.1:p.Lys1872=
NM_001130982.1:c.5596A= NP_001124454.1:p.Lys1866=
NM_001130983.1:c.5566A= NP_001124455.1:p.Lys1856=
NM_001130984.1:c.5524A= NP_001124456.1:p.Lys1842=
NM_001130985.1:c.5554A= NP_001124457.1:p.Lys1852=
NM_001130986.1:c.5461A= NP_001124458.1:p.Lys1821=
NM_001130987.1:c.5617A= NP_001124459.1:p.Lys1873=
NM_003494.3:c.5500A= NP_003485.1:p.Lys1834=
XM_005264584.3:c.5659A= XP_005264641.1:p.Lys1887=
XM_005264585.3:c.5656A= XP_005264642.1:p.Lys1886=
XM_005264584.4:c.5659A= XP_005264641.1:p.Lys1887=
XM_005264585.5:c.5656A= XP_005264642.1:p.Lys1886=
NM_001130987.2:c.5617A= MANE Select NP_001124459.1:p.Lys1873=
NM_001130455.2:c.5503A= NP_001123927.1:p.Lys1835=
NM_001130976.2:c.5458A= NP_001124448.1:p.Lys1820=
NM_001130977.2:c.5521A= NP_001124449.1:p.Lys1841=
NM_001130978.2:c.5563A= NP_001124450.1:p.Lys1855=
NM_001130979.2:c.5593A= NP_001124451.1:p.Lys1865=
NM_001130980.2:c.5551A= NP_001124452.1:p.Lys1851=
NM_001130981.2:c.5614A= NP_001124453.1:p.Lys1872=
NM_001130982.2:c.5596A= NP_001124454.1:p.Lys1866=
NM_001130983.2:c.5566A= NP_001124455.1:p.Lys1856=
NM_001130984.2:c.5524A= NP_001124456.1:p.Lys1842=
NM_001130985.2:c.5554A= NP_001124457.1:p.Lys1852=
NM_001130986.2:c.5461A= NP_001124458.1:p.Lys1821=
NM_003494.4:c.5500A= MANE Plus Clinical NP_003485.1:p.Lys1834=