Canonical Allele Identifier: CA1260124015
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71611278C= , CM000664.2:g.71611278C= GRCh38
NC_000002.11:g.71838408C= , CM000664.1:g.71838408C= GRCh37
NC_000002.10:g.71691916C= NCBI36
NG_008694.1:g.162656C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1405C= ENSP00000513536.1:p.Gln469=
ENST00000698058.1:c.622C= ENSP00000513537.1:p.Gln208=
ENST00000698059.1:c.580C= ENSP00000513538.1:p.Gln194=
ENST00000258104.8:c.3937C= MANE Plus Clinical ENSP00000258104.3:p.Gln1313=
ENST00000410020.8:c.3991C= MANE Select ENSP00000386881.3:p.Gln1331=
ENST00000258104.7:c.3937C= ENSP00000258104.3:p.Gln1313=
ENST00000394120.6:c.3940C= ENSP00000377678.2:p.Gln1314=
ENST00000409366.5:c.3940C= ENSP00000386512.1:p.Gln1314=
ENST00000409582.7:c.3988C= ENSP00000386547.3:p.Gln1330=
ENST00000409651.5:c.4033C= ENSP00000386683.1:p.Gln1345=
ENST00000409744.5:c.3898C= ENSP00000386285.1:p.Gln1300=
ENST00000409762.5:c.3988C= ENSP00000387137.1:p.Gln1330=
ENST00000410020.7:c.3991C= ENSP00000386881.3:p.Gln1331=
ENST00000410041.1:c.3991C= ENSP00000386617.1:p.Gln1331=
ENST00000413539.6:c.4030C= ENSP00000407046.2:p.Gln1344=
ENST00000429174.6:c.3937C= ENSP00000398305.2:p.Gln1313=
ENST00000468173.1:n.173C=
ENST00000472873.5:n.321C=
ENST00000479049.6:n.822C=
ENST00000487180.5:n.156C=
ENST00000494501.5:n.297C=
NM_001130455.1:c.3940C= NP_001123927.1:p.Gln1314=
NM_001130976.1:c.3895C= NP_001124448.1:p.Gln1299=
NM_001130977.1:c.3895C= NP_001124449.1:p.Gln1299=
NM_001130978.1:c.3937C= NP_001124450.1:p.Gln1313=
NM_001130979.1:c.4030C= NP_001124451.1:p.Gln1344=
NM_001130980.1:c.3988C= NP_001124452.1:p.Gln1330=
NM_001130981.1:c.3988C= NP_001124453.1:p.Gln1330=
NM_001130982.1:c.4033C= NP_001124454.1:p.Gln1345=
NM_001130983.1:c.3940C= NP_001124455.1:p.Gln1314=
NM_001130984.1:c.3898C= NP_001124456.1:p.Gln1300=
NM_001130985.1:c.3991C= NP_001124457.1:p.Gln1331=
NM_001130986.1:c.3898C= NP_001124458.1:p.Gln1300=
NM_001130987.1:c.3991C= NP_001124459.1:p.Gln1331=
NM_003494.3:c.3937C= NP_003485.1:p.Gln1313=
XM_005264584.3:c.4033C= XP_005264641.1:p.Gln1345=
XM_005264585.3:c.4030C= XP_005264642.1:p.Gln1344=
XM_005264584.4:c.4033C= XP_005264641.1:p.Gln1345=
XM_005264585.5:c.4030C= XP_005264642.1:p.Gln1344=
XR_001738969.1:n.4191C=
NM_001130987.2:c.3991C= MANE Select NP_001124459.1:p.Gln1331=
NM_001130455.2:c.3940C= NP_001123927.1:p.Gln1314=
NM_001130976.2:c.3895C= NP_001124448.1:p.Gln1299=
NM_001130977.2:c.3895C= NP_001124449.1:p.Gln1299=
NM_001130978.2:c.3937C= NP_001124450.1:p.Gln1313=
NM_001130979.2:c.4030C= NP_001124451.1:p.Gln1344=
NM_001130980.2:c.3988C= NP_001124452.1:p.Gln1330=
NM_001130981.2:c.3988C= NP_001124453.1:p.Gln1330=
NM_001130982.2:c.4033C= NP_001124454.1:p.Gln1345=
NM_001130983.2:c.3940C= NP_001124455.1:p.Gln1314=
NM_001130984.2:c.3898C= NP_001124456.1:p.Gln1300=
NM_001130985.2:c.3991C= NP_001124457.1:p.Gln1331=
NM_001130986.2:c.3898C= NP_001124458.1:p.Gln1300=
NM_003494.4:c.3937C= MANE Plus Clinical NP_003485.1:p.Gln1313=