Canonical Allele Identifier: CA1707053
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 282699
dbSNP Id: rs544993852
gnomAD v2: 2-71871127-C-T
gnomAD v3: 2-71643997-C-T
gnomAD v4: 2-71643997-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71643997C>T , CM000664.2:g.71643997C>T GRCh38
NC_000002.11:g.71871127C>T , CM000664.1:g.71871127C>T GRCh37
NC_000002.10:g.71724635C>T NCBI36
NG_008694.1:g.195375C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1974C>T ENSP00000513536.1:p.Phe658=
ENST00000698058.1:c.1191C>T ENSP00000513537.1:p.Phe397=
ENST00000698059.1:c.1299C>T ENSP00000513538.1:p.Phe433=
ENST00000258104.8:c.4443C>T MANE Plus Clinical ENSP00000258104.3:p.Phe1481=
ENST00000410020.8:c.4560C>T MANE Select ENSP00000386881.3:p.Phe1520=
ENST00000258104.7:c.4443C>T ENSP00000258104.3:p.Phe1481=
ENST00000394120.6:c.4446C>T ENSP00000377678.2:p.Phe1482=
ENST00000409366.5:c.4509C>T ENSP00000386512.1:p.Phe1503=
ENST00000409582.7:c.4557C>T ENSP00000386547.3:p.Phe1519=
ENST00000409651.5:c.4539C>T ENSP00000386683.1:p.Phe1513=
ENST00000409744.5:c.4467C>T ENSP00000386285.1:p.Phe1489=
ENST00000409762.5:c.4494C>T ENSP00000387137.1:p.Phe1498=
ENST00000410020.7:c.4560C>T ENSP00000386881.3:p.Phe1520=
ENST00000410041.1:c.4497C>T ENSP00000386617.1:p.Phe1499=
ENST00000413539.6:c.4536C>T ENSP00000407046.2:p.Phe1512=
ENST00000429174.6:c.4506C>T ENSP00000398305.2:p.Phe1502=
ENST00000468173.1:n.742C>T
ENST00000479049.6:n.1328C>T
NM_001130455.1:c.4446C>T NP_001123927.1:p.Phe1482=
NM_001130976.1:c.4401C>T NP_001124448.1:p.Phe1467=
NM_001130977.1:c.4464C>T NP_001124449.1:p.Phe1488=
NM_001130978.1:c.4506C>T NP_001124450.1:p.Phe1502=
NM_001130979.1:c.4536C>T NP_001124451.1:p.Phe1512=
NM_001130980.1:c.4494C>T NP_001124452.1:p.Phe1498=
NM_001130981.1:c.4557C>T NP_001124453.1:p.Phe1519=
NM_001130982.1:c.4539C>T NP_001124454.1:p.Phe1513=
NM_001130983.1:c.4509C>T NP_001124455.1:p.Phe1503=
NM_001130984.1:c.4467C>T NP_001124456.1:p.Phe1489=
NM_001130985.1:c.4497C>T NP_001124457.1:p.Phe1499=
NM_001130986.1:c.4404C>T NP_001124458.1:p.Phe1468=
NM_001130987.1:c.4560C>T NP_001124459.1:p.Phe1520=
NM_003494.3:c.4443C>T NP_003485.1:p.Phe1481=
XM_005264584.3:c.4602C>T XP_005264641.1:p.Phe1534=
XM_005264585.3:c.4599C>T XP_005264642.1:p.Phe1533=
XM_005264584.4:c.4602C>T XP_005264641.1:p.Phe1534=
XM_005264585.5:c.4599C>T XP_005264642.1:p.Phe1533=
XR_001738969.1:n.4760C>T
NM_001130987.2:c.4560C>T MANE Select NP_001124459.1:p.Phe1520=
NM_001130455.2:c.4446C>T NP_001123927.1:p.Phe1482=
NM_001130976.2:c.4401C>T NP_001124448.1:p.Phe1467=
NM_001130977.2:c.4464C>T NP_001124449.1:p.Phe1488=
NM_001130978.2:c.4506C>T NP_001124450.1:p.Phe1502=
NM_001130979.2:c.4536C>T NP_001124451.1:p.Phe1512=
NM_001130980.2:c.4494C>T NP_001124452.1:p.Phe1498=
NM_001130981.2:c.4557C>T NP_001124453.1:p.Phe1519=
NM_001130982.2:c.4539C>T NP_001124454.1:p.Phe1513=
NM_001130983.2:c.4509C>T NP_001124455.1:p.Phe1503=
NM_001130984.2:c.4467C>T NP_001124456.1:p.Phe1489=
NM_001130985.2:c.4497C>T NP_001124457.1:p.Phe1499=
NM_001130986.2:c.4404C>T NP_001124458.1:p.Phe1468=
NM_003494.4:c.4443C>T MANE Plus Clinical NP_003485.1:p.Phe1481=