Canonical Allele Identifier: CA1707009
Community Standard Title: NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71613401C>G , CM000664.2:g.71613401C>G GRCh38
NC_000002.11:g.71840531C>G , CM000664.1:g.71840531C>G GRCh37
NC_000002.10:g.71694039C>G NCBI36
NG_008694.1:g.164779C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4455C>G MANE Select NP_001124459.1:p.Ile1485Met
ENST00000410020.8:c.4455C>G MANE Select ENSP00000386881.3:p.Ile1485Met
NM_003494.4:c.4401C>G MANE Plus Clinical NP_003485.1:p.Ile1467Met
ENST00000258104.8:c.4401C>G MANE Plus Clinical ENSP00000258104.3:p.Ile1467Met
NM_001130455.1:c.4404C>G NP_001123927.1:p.Ile1468Met
NM_001130455.2:c.4404C>G NP_001123927.1:p.Ile1468Met
NM_001130976.1:c.4359C>G NP_001124448.1:p.Ile1453Met
NM_001130976.2:c.4359C>G NP_001124448.1:p.Ile1453Met
NM_001130977.1:c.4359C>G NP_001124449.1:p.Ile1453Met
NM_001130977.2:c.4359C>G NP_001124449.1:p.Ile1453Met
NM_001130978.1:c.4401C>G NP_001124450.1:p.Ile1467Met
NM_001130978.2:c.4401C>G NP_001124450.1:p.Ile1467Met
NM_001130979.1:c.4494C>G NP_001124451.1:p.Ile1498Met
NM_001130979.2:c.4494C>G NP_001124451.1:p.Ile1498Met
NM_001130980.1:c.4452C>G NP_001124452.1:p.Ile1484Met
NM_001130980.2:c.4452C>G NP_001124452.1:p.Ile1484Met
NM_001130981.1:c.4452C>G NP_001124453.1:p.Ile1484Met
NM_001130981.2:c.4452C>G NP_001124453.1:p.Ile1484Met
NM_001130982.1:c.4497C>G NP_001124454.1:p.Ile1499Met
NM_001130982.2:c.4497C>G NP_001124454.1:p.Ile1499Met
NM_001130983.1:c.4404C>G NP_001124455.1:p.Ile1468Met
NM_001130983.2:c.4404C>G NP_001124455.1:p.Ile1468Met
NM_001130984.1:c.4362C>G NP_001124456.1:p.Ile1454Met
NM_001130984.2:c.4362C>G NP_001124456.1:p.Ile1454Met
NM_001130985.1:c.4455C>G NP_001124457.1:p.Ile1485Met
NM_001130985.2:c.4455C>G NP_001124457.1:p.Ile1485Met
NM_001130986.1:c.4362C>G NP_001124458.1:p.Ile1454Met
NM_001130986.2:c.4362C>G NP_001124458.1:p.Ile1454Met
NM_001130987.1:c.4455C>G NP_001124459.1:p.Ile1485Met
NM_003494.3:c.4401C>G NP_003485.1:p.Ile1467Met
ENST00000258104.7:c.4401C>G ENSP00000258104.3:p.Ile1467Met
ENST00000394120.6:c.4404C>G ENSP00000377678.2:p.Ile1468Met
ENST00000409366.5:c.4404C>G ENSP00000386512.1:p.Ile1468Met
ENST00000409582.7:c.4452C>G ENSP00000386547.3:p.Ile1484Met
ENST00000409651.5:c.4497C>G ENSP00000386683.1:p.Ile1499Met
ENST00000409744.5:c.4362C>G ENSP00000386285.1:p.Ile1454Met
ENST00000409762.5:c.4452C>G ENSP00000387137.1:p.Ile1484Met
ENST00000410020.7:c.4455C>G ENSP00000386881.3:p.Ile1485Met
ENST00000410041.1:c.4455C>G ENSP00000386617.1:p.Ile1485Met
ENST00000413539.6:c.4494C>G ENSP00000407046.2:p.Ile1498Met
ENST00000429174.6:c.4401C>G ENSP00000398305.2:p.Ile1467Met
ENST00000468173.1:n.637C>G
ENST00000479049.6:n.1286C>G
ENST00000698057.1:c.1869C>G ENSP00000513536.1:p.Ile623Met
ENST00000698058.1:c.1086C>G ENSP00000513537.1:p.Ile362Met
ENST00000698059.1:c.1044C>G ENSP00000513538.1:p.Ile348Met
XM_005264584.3:c.4497C>G XP_005264641.1:p.Ile1499Met
XM_005264584.4:c.4497C>G XP_005264641.1:p.Ile1499Met
XM_005264585.3:c.4494C>G XP_005264642.1:p.Ile1498Met
XM_005264585.5:c.4494C>G XP_005264642.1:p.Ile1498Met
XR_001738969.1:n.4655C>G