Canonical Allele Identifier: CA147757
Gene: DYSF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 94318
dbSNP Id: rs2303607

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71611527C>T , CM000664.2:g.71611527C>T GRCh38
NC_000002.10:g.71692165C>T NCBI36
NC_000002.11:g.71838657C>T , CM000664.1:g.71838657C>T GRCh37
NG_008694.1:g.162905C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258104.7:c.4068C>T ENSP00000258104.3:p.Ser1356=
ENST00000394120.6:c.4071C>T ENSP00000377678.2:p.Ser1357=
ENST00000409366.5:c.4071C>T ENSP00000386512.1:p.Ser1357=
ENST00000409582.7:c.4119C>T ENSP00000386547.3:p.Ser1373=
ENST00000409651.5:c.4164C>T ENSP00000386683.1:p.Ser1388=
ENST00000409744.5:c.4029C>T ENSP00000386285.1:p.Ser1343=
ENST00000409762.5:c.4119C>T ENSP00000387137.1:p.Ser1373=
ENST00000410020.7:c.4122C>T ENSP00000386881.3:p.Ser1374=
ENST00000410041.1:c.4122C>T ENSP00000386617.1:p.Ser1374=
ENST00000413539.6:c.4161C>T ENSP00000407046.2:p.Ser1387=
ENST00000429174.6:c.4068C>T ENSP00000398305.2:p.Ser1356=
ENST00000468173.1:n.304C>T
ENST00000472873.5:n.452C>T
ENST00000479049.6:n.953C>T
ENST00000487180.5:n.287C>T
ENST00000494501.5:n.366C>T
NM_001130455.1:c.4071C>T VV NP_001123927.1:p.Ser1357=
NM_001130976.1:c.4026C>T VV NP_001124448.1:p.Ser1342=
NM_001130977.1:c.4026C>T VV NP_001124449.1:p.Ser1342=
NM_001130978.1:c.4068C>T VV NP_001124450.1:p.Ser1356=
NM_001130979.1:c.4161C>T VV NP_001124451.1:p.Ser1387=
NM_001130980.1:c.4119C>T VV NP_001124452.1:p.Ser1373=
NM_001130981.1:c.4119C>T VV NP_001124453.1:p.Ser1373=
NM_001130982.1:c.4164C>T VV NP_001124454.1:p.Ser1388=
NM_001130983.1:c.4071C>T VV NP_001124455.1:p.Ser1357=
NM_001130984.1:c.4029C>T VV NP_001124456.1:p.Ser1343=
NM_001130985.1:c.4122C>T VV NP_001124457.1:p.Ser1374=
NM_001130986.1:c.4029C>T VV NP_001124458.1:p.Ser1343=
NM_001130987.1:c.4122C>T VV NP_001124459.1:p.Ser1374=
NM_003494.3:c.4068C>T VV NP_003485.1:p.Ser1356=
XM_005264584.3:c.4164C>T XP_005264641.1:p.Ser1388=
XM_005264585.3:c.4161C>T XP_005264642.1:p.Ser1387=