Canonical Allele Identifier: CA1707288
Community Standard Title: NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71665193C>T , CM000664.2:g.71665193C>T GRCh38
NC_000002.11:g.71892323C>T , CM000664.1:g.71892323C>T GRCh37
NC_000002.10:g.71745831C>T NCBI36
NG_008694.1:g.216571C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5206C>T MANE Select NP_001124459.1:p.Arg1736Cys
ENST00000410020.8:c.5206C>T MANE Select ENSP00000386881.3:p.Arg1736Cys
NM_003494.4:c.5089C>T MANE Plus Clinical NP_003485.1:p.Arg1697Cys
ENST00000258104.8:c.5089C>T MANE Plus Clinical ENSP00000258104.3:p.Arg1697Cys
NM_001130455.1:c.5092C>T NP_001123927.1:p.Arg1698Cys
NM_001130455.2:c.5092C>T NP_001123927.1:p.Arg1698Cys
NM_001130976.1:c.5047C>T NP_001124448.1:p.Arg1683Cys
NM_001130976.2:c.5047C>T NP_001124448.1:p.Arg1683Cys
NM_001130977.1:c.5110C>T NP_001124449.1:p.Arg1704Cys
NM_001130977.2:c.5110C>T NP_001124449.1:p.Arg1704Cys
NM_001130978.1:c.5152C>T NP_001124450.1:p.Arg1718Cys
NM_001130978.2:c.5152C>T NP_001124450.1:p.Arg1718Cys
NM_001130979.1:c.5182C>T NP_001124451.1:p.Arg1728Cys
NM_001130979.2:c.5182C>T NP_001124451.1:p.Arg1728Cys
NM_001130980.1:c.5140C>T NP_001124452.1:p.Arg1714Cys
NM_001130980.2:c.5140C>T NP_001124452.1:p.Arg1714Cys
NM_001130981.1:c.5203C>T NP_001124453.1:p.Arg1735Cys
NM_001130981.2:c.5203C>T NP_001124453.1:p.Arg1735Cys
NM_001130982.1:c.5185C>T NP_001124454.1:p.Arg1729Cys
NM_001130982.2:c.5185C>T NP_001124454.1:p.Arg1729Cys
NM_001130983.1:c.5155C>T NP_001124455.1:p.Arg1719Cys
NM_001130983.2:c.5155C>T NP_001124455.1:p.Arg1719Cys
NM_001130984.1:c.5113C>T NP_001124456.1:p.Arg1705Cys
NM_001130984.2:c.5113C>T NP_001124456.1:p.Arg1705Cys
NM_001130985.1:c.5143C>T NP_001124457.1:p.Arg1715Cys
NM_001130985.2:c.5143C>T NP_001124457.1:p.Arg1715Cys
NM_001130986.1:c.5050C>T NP_001124458.1:p.Arg1684Cys
NM_001130986.2:c.5050C>T NP_001124458.1:p.Arg1684Cys
NM_001130987.1:c.5206C>T NP_001124459.1:p.Arg1736Cys
NM_003494.3:c.5089C>T NP_003485.1:p.Arg1697Cys
ENST00000258104.7:c.5089C>T ENSP00000258104.3:p.Arg1697Cys
ENST00000394120.6:c.5092C>T ENSP00000377678.2:p.Arg1698Cys
ENST00000409366.5:c.5155C>T ENSP00000386512.1:p.Arg1719Cys
ENST00000409582.7:c.5203C>T ENSP00000386547.3:p.Arg1735Cys
ENST00000409651.5:c.5185C>T ENSP00000386683.1:p.Arg1729Cys
ENST00000409744.5:c.5113C>T ENSP00000386285.1:p.Arg1705Cys
ENST00000409762.5:c.5140C>T ENSP00000387137.1:p.Arg1714Cys
ENST00000410020.7:c.5206C>T ENSP00000386881.3:p.Arg1736Cys
ENST00000410041.1:c.5143C>T ENSP00000386617.1:p.Arg1715Cys
ENST00000413539.6:c.5182C>T ENSP00000407046.2:p.Arg1728Cys
ENST00000429174.6:c.5152C>T ENSP00000398305.2:p.Arg1718Cys
ENST00000479049.6:n.1974C>T
ENST00000698057.1:c.2620C>T ENSP00000513536.1:p.Arg874Cys
ENST00000698058.1:c.1837C>T ENSP00000513537.1:p.Arg613Cys
ENST00000698059.1:c.1945C>T ENSP00000513538.1:p.Arg649Cys
XM_005264584.3:c.5248C>T XP_005264641.1:p.Arg1750Cys
XM_005264584.4:c.5248C>T XP_005264641.1:p.Arg1750Cys
XM_005264585.3:c.5245C>T XP_005264642.1:p.Arg1749Cys
XM_005264585.5:c.5245C>T XP_005264642.1:p.Arg1749Cys
XR_001738969.1:n.5604C>T