Canonical Allele Identifier: CA1260124165
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71611555G= , CM000664.2:g.71611555G= GRCh38
NC_000002.11:g.71838685G= , CM000664.1:g.71838685G= GRCh37
NC_000002.10:g.71692193G= NCBI36
NG_008694.1:g.162933G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1564G= ENSP00000513536.1:p.Val522=
ENST00000698058.1:c.781G= ENSP00000513537.1:p.Val261=
ENST00000698059.1:c.739G= ENSP00000513538.1:p.Val247=
ENST00000258104.8:c.4096G= MANE Plus Clinical ENSP00000258104.3:p.Val1366=
ENST00000410020.8:c.4150G= MANE Select ENSP00000386881.3:p.Val1384=
ENST00000258104.7:c.4096G= ENSP00000258104.3:p.Val1366=
ENST00000394120.6:c.4099G= ENSP00000377678.2:p.Val1367=
ENST00000409366.5:c.4099G= ENSP00000386512.1:p.Val1367=
ENST00000409582.7:c.4147G= ENSP00000386547.3:p.Val1383=
ENST00000409651.5:c.4192G= ENSP00000386683.1:p.Val1398=
ENST00000409744.5:c.4057G= ENSP00000386285.1:p.Val1353=
ENST00000409762.5:c.4147G= ENSP00000387137.1:p.Val1383=
ENST00000410020.7:c.4150G= ENSP00000386881.3:p.Val1384=
ENST00000410041.1:c.4150G= ENSP00000386617.1:p.Val1384=
ENST00000413539.6:c.4189G= ENSP00000407046.2:p.Val1397=
ENST00000429174.6:c.4096G= ENSP00000398305.2:p.Val1366=
ENST00000468173.1:n.332G=
ENST00000472873.5:n.480G=
ENST00000479049.6:n.981G=
ENST00000487180.5:n.315G=
ENST00000494501.5:n.394G=
NM_001130455.1:c.4099G= NP_001123927.1:p.Val1367=
NM_001130976.1:c.4054G= NP_001124448.1:p.Val1352=
NM_001130977.1:c.4054G= NP_001124449.1:p.Val1352=
NM_001130978.1:c.4096G= NP_001124450.1:p.Val1366=
NM_001130979.1:c.4189G= NP_001124451.1:p.Val1397=
NM_001130980.1:c.4147G= NP_001124452.1:p.Val1383=
NM_001130981.1:c.4147G= NP_001124453.1:p.Val1383=
NM_001130982.1:c.4192G= NP_001124454.1:p.Val1398=
NM_001130983.1:c.4099G= NP_001124455.1:p.Val1367=
NM_001130984.1:c.4057G= NP_001124456.1:p.Val1353=
NM_001130985.1:c.4150G= NP_001124457.1:p.Val1384=
NM_001130986.1:c.4057G= NP_001124458.1:p.Val1353=
NM_001130987.1:c.4150G= NP_001124459.1:p.Val1384=
NM_003494.3:c.4096G= NP_003485.1:p.Val1366=
XM_005264584.3:c.4192G= XP_005264641.1:p.Val1398=
XM_005264585.3:c.4189G= XP_005264642.1:p.Val1397=
XM_005264584.4:c.4192G= XP_005264641.1:p.Val1398=
XM_005264585.5:c.4189G= XP_005264642.1:p.Val1397=
XR_001738969.1:n.4350G=
NM_001130987.2:c.4150G= MANE Select NP_001124459.1:p.Val1384=
NM_001130455.2:c.4099G= NP_001123927.1:p.Val1367=
NM_001130976.2:c.4054G= NP_001124448.1:p.Val1352=
NM_001130977.2:c.4054G= NP_001124449.1:p.Val1352=
NM_001130978.2:c.4096G= NP_001124450.1:p.Val1366=
NM_001130979.2:c.4189G= NP_001124451.1:p.Val1397=
NM_001130980.2:c.4147G= NP_001124452.1:p.Val1383=
NM_001130981.2:c.4147G= NP_001124453.1:p.Val1383=
NM_001130982.2:c.4192G= NP_001124454.1:p.Val1398=
NM_001130983.2:c.4099G= NP_001124455.1:p.Val1367=
NM_001130984.2:c.4057G= NP_001124456.1:p.Val1353=
NM_001130985.2:c.4150G= NP_001124457.1:p.Val1384=
NM_001130986.2:c.4057G= NP_001124458.1:p.Val1353=
NM_003494.4:c.4096G= MANE Plus Clinical NP_003485.1:p.Val1366=