Canonical Allele Identifier: CA1707011
Community Standard Title: NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71613407C>T , CM000664.2:g.71613407C>T GRCh38
NC_000002.11:g.71840537C>T , CM000664.1:g.71840537C>T GRCh37
NC_000002.10:g.71694045C>T NCBI36
NG_008694.1:g.164785C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4461C>T MANE Select NP_001124459.1:p.Ile1487=
ENST00000410020.8:c.4461C>T MANE Select ENSP00000386881.3:p.Ile1487=
NM_003494.4:c.4407C>T MANE Plus Clinical NP_003485.1:p.Ile1469=
ENST00000258104.8:c.4407C>T MANE Plus Clinical ENSP00000258104.3:p.Ile1469=
NM_001130455.1:c.4410C>T NP_001123927.1:p.Ile1470=
NM_001130455.2:c.4410C>T NP_001123927.1:p.Ile1470=
NM_001130976.1:c.4365C>T NP_001124448.1:p.Ile1455=
NM_001130976.2:c.4365C>T NP_001124448.1:p.Ile1455=
NM_001130977.1:c.4365C>T NP_001124449.1:p.Ile1455=
NM_001130977.2:c.4365C>T NP_001124449.1:p.Ile1455=
NM_001130978.1:c.4407C>T NP_001124450.1:p.Ile1469=
NM_001130978.2:c.4407C>T NP_001124450.1:p.Ile1469=
NM_001130979.1:c.4500C>T NP_001124451.1:p.Ile1500=
NM_001130979.2:c.4500C>T NP_001124451.1:p.Ile1500=
NM_001130980.1:c.4458C>T NP_001124452.1:p.Ile1486=
NM_001130980.2:c.4458C>T NP_001124452.1:p.Ile1486=
NM_001130981.1:c.4458C>T NP_001124453.1:p.Ile1486=
NM_001130981.2:c.4458C>T NP_001124453.1:p.Ile1486=
NM_001130982.1:c.4503C>T NP_001124454.1:p.Ile1501=
NM_001130982.2:c.4503C>T NP_001124454.1:p.Ile1501=
NM_001130983.1:c.4410C>T NP_001124455.1:p.Ile1470=
NM_001130983.2:c.4410C>T NP_001124455.1:p.Ile1470=
NM_001130984.1:c.4368C>T NP_001124456.1:p.Ile1456=
NM_001130984.2:c.4368C>T NP_001124456.1:p.Ile1456=
NM_001130985.1:c.4461C>T NP_001124457.1:p.Ile1487=
NM_001130985.2:c.4461C>T NP_001124457.1:p.Ile1487=
NM_001130986.1:c.4368C>T NP_001124458.1:p.Ile1456=
NM_001130986.2:c.4368C>T NP_001124458.1:p.Ile1456=
NM_001130987.1:c.4461C>T NP_001124459.1:p.Ile1487=
NM_003494.3:c.4407C>T NP_003485.1:p.Ile1469=
ENST00000258104.7:c.4407C>T ENSP00000258104.3:p.Ile1469=
ENST00000394120.6:c.4410C>T ENSP00000377678.2:p.Ile1470=
ENST00000409366.5:c.4410C>T ENSP00000386512.1:p.Ile1470=
ENST00000409582.7:c.4458C>T ENSP00000386547.3:p.Ile1486=
ENST00000409651.5:c.4503C>T ENSP00000386683.1:p.Ile1501=
ENST00000409744.5:c.4368C>T ENSP00000386285.1:p.Ile1456=
ENST00000409762.5:c.4458C>T ENSP00000387137.1:p.Ile1486=
ENST00000410020.7:c.4461C>T ENSP00000386881.3:p.Ile1487=
ENST00000410041.1:c.4461C>T ENSP00000386617.1:p.Ile1487=
ENST00000413539.6:c.4500C>T ENSP00000407046.2:p.Ile1500=
ENST00000429174.6:c.4407C>T ENSP00000398305.2:p.Ile1469=
ENST00000468173.1:n.643C>T
ENST00000479049.6:n.1292C>T
ENST00000698057.1:c.1875C>T ENSP00000513536.1:p.Ile625=
ENST00000698058.1:c.1092C>T ENSP00000513537.1:p.Ile364=
ENST00000698059.1:c.1050C>T ENSP00000513538.1:p.Ile350=
XM_005264584.3:c.4503C>T XP_005264641.1:p.Ile1501=
XM_005264584.4:c.4503C>T XP_005264641.1:p.Ile1501=
XM_005264585.3:c.4500C>T XP_005264642.1:p.Ile1500=
XM_005264585.5:c.4500C>T XP_005264642.1:p.Ile1500=
XR_001738969.1:n.4661C>T