Canonical Allele Identifier: CA426704042
Community Standard Title: NM_001130987.2(DYSF):c.5223C>T (p.Leu1741=)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71665210C>T , CM000664.2:g.71665210C>T GRCh38
NC_000002.11:g.71892340C>T , CM000664.1:g.71892340C>T GRCh37
NC_000002.10:g.71745848C>T NCBI36
NG_008694.1:g.216588C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5223C>T MANE Select NP_001124459.1:p.Leu1741=
ENST00000410020.8:c.5223C>T MANE Select ENSP00000386881.3:p.Leu1741=
NM_003494.4:c.5106C>T MANE Plus Clinical NP_003485.1:p.Leu1702=
ENST00000258104.8:c.5106C>T MANE Plus Clinical ENSP00000258104.3:p.Leu1702=
NM_001130455.1:c.5109C>T NP_001123927.1:p.Leu1703=
NM_001130455.2:c.5109C>T NP_001123927.1:p.Leu1703=
NM_001130976.1:c.5064C>T NP_001124448.1:p.Leu1688=
NM_001130976.2:c.5064C>T NP_001124448.1:p.Leu1688=
NM_001130977.1:c.5127C>T NP_001124449.1:p.Leu1709=
NM_001130977.2:c.5127C>T NP_001124449.1:p.Leu1709=
NM_001130978.1:c.5169C>T NP_001124450.1:p.Leu1723=
NM_001130978.2:c.5169C>T NP_001124450.1:p.Leu1723=
NM_001130979.1:c.5199C>T NP_001124451.1:p.Leu1733=
NM_001130979.2:c.5199C>T NP_001124451.1:p.Leu1733=
NM_001130980.1:c.5157C>T NP_001124452.1:p.Leu1719=
NM_001130980.2:c.5157C>T NP_001124452.1:p.Leu1719=
NM_001130981.1:c.5220C>T NP_001124453.1:p.Leu1740=
NM_001130981.2:c.5220C>T NP_001124453.1:p.Leu1740=
NM_001130982.1:c.5202C>T NP_001124454.1:p.Leu1734=
NM_001130982.2:c.5202C>T NP_001124454.1:p.Leu1734=
NM_001130983.1:c.5172C>T NP_001124455.1:p.Leu1724=
NM_001130983.2:c.5172C>T NP_001124455.1:p.Leu1724=
NM_001130984.1:c.5130C>T NP_001124456.1:p.Leu1710=
NM_001130984.2:c.5130C>T NP_001124456.1:p.Leu1710=
NM_001130985.1:c.5160C>T NP_001124457.1:p.Leu1720=
NM_001130985.2:c.5160C>T NP_001124457.1:p.Leu1720=
NM_001130986.1:c.5067C>T NP_001124458.1:p.Leu1689=
NM_001130986.2:c.5067C>T NP_001124458.1:p.Leu1689=
NM_001130987.1:c.5223C>T NP_001124459.1:p.Leu1741=
NM_003494.3:c.5106C>T NP_003485.1:p.Leu1702=
ENST00000258104.7:c.5106C>T ENSP00000258104.3:p.Leu1702=
ENST00000394120.6:c.5109C>T ENSP00000377678.2:p.Leu1703=
ENST00000409366.5:c.5172C>T ENSP00000386512.1:p.Leu1724=
ENST00000409582.7:c.5220C>T ENSP00000386547.3:p.Leu1740=
ENST00000409651.5:c.5202C>T ENSP00000386683.1:p.Leu1734=
ENST00000409744.5:c.5130C>T ENSP00000386285.1:p.Leu1710=
ENST00000409762.5:c.5157C>T ENSP00000387137.1:p.Leu1719=
ENST00000410020.7:c.5223C>T ENSP00000386881.3:p.Leu1741=
ENST00000410041.1:c.5160C>T ENSP00000386617.1:p.Leu1720=
ENST00000413539.6:c.5199C>T ENSP00000407046.2:p.Leu1733=
ENST00000429174.6:c.5169C>T ENSP00000398305.2:p.Leu1723=
ENST00000479049.6:n.1991C>T
ENST00000698057.1:c.2637C>T ENSP00000513536.1:p.Leu879=
ENST00000698058.1:c.1854C>T ENSP00000513537.1:p.Leu618=
ENST00000698059.1:c.1962C>T ENSP00000513538.1:p.Leu654=
XM_005264584.3:c.5265C>T XP_005264641.1:p.Leu1755=
XM_005264584.4:c.5265C>T XP_005264641.1:p.Leu1755=
XM_005264585.3:c.5262C>T XP_005264642.1:p.Leu1754=
XM_005264585.5:c.5262C>T XP_005264642.1:p.Leu1754=
XR_001738969.1:n.5621C>T