Canonical Allele Identifier: CA347227440
Community Standard Title: NM_001130987.2(DYSF):c.6305T>G (p.Phe2102Cys)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71682661T>G , CM000664.2:g.71682661T>G GRCh38
NC_000002.11:g.71909791T>G , CM000664.1:g.71909791T>G GRCh37
NC_000002.10:g.71763299T>G NCBI36
NG_008694.1:g.234039T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.6305T>G MANE Select NP_001124459.1:p.Phe2102Cys
ENST00000410020.8:c.6305T>G MANE Select ENSP00000386881.3:p.Phe2102Cys
NM_003494.4:c.6188T>G MANE Plus Clinical NP_003485.1:p.Phe2063Cys
ENST00000258104.8:c.6188T>G MANE Plus Clinical ENSP00000258104.3:p.Phe2063Cys
NM_001130455.1:c.6191T>G NP_001123927.1:p.Phe2064Cys
NM_001130455.2:c.6191T>G NP_001123927.1:p.Phe2064Cys
NM_001130976.1:c.6146T>G NP_001124448.1:p.Phe2049Cys
NM_001130976.2:c.6146T>G NP_001124448.1:p.Phe2049Cys
NM_001130977.1:c.6209T>G NP_001124449.1:p.Phe2070Cys
NM_001130977.2:c.6209T>G NP_001124449.1:p.Phe2070Cys
NM_001130978.1:c.6251T>G NP_001124450.1:p.Phe2084Cys
NM_001130978.2:c.6251T>G NP_001124450.1:p.Phe2084Cys
NM_001130979.1:c.6281T>G NP_001124451.1:p.Phe2094Cys
NM_001130979.2:c.6281T>G NP_001124451.1:p.Phe2094Cys
NM_001130980.1:c.6239T>G NP_001124452.1:p.Phe2080Cys
NM_001130980.2:c.6239T>G NP_001124452.1:p.Phe2080Cys
NM_001130981.1:c.6302T>G NP_001124453.1:p.Phe2101Cys
NM_001130981.2:c.6302T>G NP_001124453.1:p.Phe2101Cys
NM_001130982.1:c.6284T>G NP_001124454.1:p.Phe2095Cys
NM_001130982.2:c.6284T>G NP_001124454.1:p.Phe2095Cys
NM_001130983.1:c.6254T>G NP_001124455.1:p.Phe2085Cys
NM_001130983.2:c.6254T>G NP_001124455.1:p.Phe2085Cys
NM_001130984.1:c.6212T>G NP_001124456.1:p.Phe2071Cys
NM_001130984.2:c.6212T>G NP_001124456.1:p.Phe2071Cys
NM_001130985.1:c.6242T>G NP_001124457.1:p.Phe2081Cys
NM_001130985.2:c.6242T>G NP_001124457.1:p.Phe2081Cys
NM_001130986.1:c.6149T>G NP_001124458.1:p.Phe2050Cys
NM_001130986.2:c.6149T>G NP_001124458.1:p.Phe2050Cys
NM_001130987.1:c.6305T>G NP_001124459.1:p.Phe2102Cys
NM_003494.3:c.6188T>G NP_003485.1:p.Phe2063Cys
ENST00000258104.7:c.6188T>G ENSP00000258104.3:p.Phe2063Cys
ENST00000394120.6:c.6191T>G ENSP00000377678.2:p.Phe2064Cys
ENST00000409366.5:c.6254T>G ENSP00000386512.1:p.Phe2085Cys
ENST00000409582.7:c.6302T>G ENSP00000386547.3:p.Phe2101Cys
ENST00000409651.5:c.6284T>G ENSP00000386683.1:p.Phe2095Cys
ENST00000409744.5:c.6212T>G ENSP00000386285.1:p.Phe2071Cys
ENST00000409762.5:c.6239T>G ENSP00000387137.1:p.Phe2080Cys
ENST00000410020.7:c.6305T>G ENSP00000386881.3:p.Phe2102Cys
ENST00000410041.1:c.6242T>G ENSP00000386617.1:p.Phe2081Cys
ENST00000413539.6:c.6281T>G ENSP00000407046.2:p.Phe2094Cys
ENST00000429174.6:c.6251T>G ENSP00000398305.2:p.Phe2084Cys
ENST00000479049.6:n.3073T>G
ENST00000698057.1:c.3719T>G ENSP00000513536.1:p.Phe1240Cys
ENST00000698058.1:c.2936T>G ENSP00000513537.1:p.Phe979Cys
ENST00000698059.1:c.3044T>G ENSP00000513538.1:p.Phe1015Cys
XM_005264584.3:c.6347T>G XP_005264641.1:p.Phe2116Cys
XM_005264584.4:c.6347T>G XP_005264641.1:p.Phe2116Cys
XM_005264585.3:c.6344T>G XP_005264642.1:p.Phe2115Cys
XM_005264585.5:c.6344T>G XP_005264642.1:p.Phe2115Cys