Canonical Allele Identifier: CA347224057
Community Standard Title: NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669720G>T , CM000664.2:g.71669720G>T GRCh38
NC_000002.11:g.71896850G>T , CM000664.1:g.71896850G>T GRCh37
NC_000002.10:g.71750358G>T NCBI36
NG_008694.1:g.221098G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5758G>T MANE Select NP_001124459.1:p.Glu1920Ter
ENST00000410020.8:c.5758G>T MANE Select ENSP00000386881.3:p.Glu1920Ter
NM_003494.4:c.5641G>T MANE Plus Clinical NP_003485.1:p.Glu1881Ter
ENST00000258104.8:c.5641G>T MANE Plus Clinical ENSP00000258104.3:p.Glu1881Ter
NM_001130455.1:c.5644G>T NP_001123927.1:p.Glu1882Ter
NM_001130455.2:c.5644G>T NP_001123927.1:p.Glu1882Ter
NM_001130976.1:c.5599G>T NP_001124448.1:p.Glu1867Ter
NM_001130976.2:c.5599G>T NP_001124448.1:p.Glu1867Ter
NM_001130977.1:c.5662G>T NP_001124449.1:p.Glu1888Ter
NM_001130977.2:c.5662G>T NP_001124449.1:p.Glu1888Ter
NM_001130978.1:c.5704G>T NP_001124450.1:p.Glu1902Ter
NM_001130978.2:c.5704G>T NP_001124450.1:p.Glu1902Ter
NM_001130979.1:c.5734G>T NP_001124451.1:p.Glu1912Ter
NM_001130979.2:c.5734G>T NP_001124451.1:p.Glu1912Ter
NM_001130980.1:c.5692G>T NP_001124452.1:p.Glu1898Ter
NM_001130980.2:c.5692G>T NP_001124452.1:p.Glu1898Ter
NM_001130981.1:c.5755G>T NP_001124453.1:p.Glu1919Ter
NM_001130981.2:c.5755G>T NP_001124453.1:p.Glu1919Ter
NM_001130982.1:c.5737G>T NP_001124454.1:p.Glu1913Ter
NM_001130982.2:c.5737G>T NP_001124454.1:p.Glu1913Ter
NM_001130983.1:c.5707G>T NP_001124455.1:p.Glu1903Ter
NM_001130983.2:c.5707G>T NP_001124455.1:p.Glu1903Ter
NM_001130984.1:c.5665G>T NP_001124456.1:p.Glu1889Ter
NM_001130984.2:c.5665G>T NP_001124456.1:p.Glu1889Ter
NM_001130985.1:c.5695G>T NP_001124457.1:p.Glu1899Ter
NM_001130985.2:c.5695G>T NP_001124457.1:p.Glu1899Ter
NM_001130986.1:c.5602G>T NP_001124458.1:p.Glu1868Ter
NM_001130986.2:c.5602G>T NP_001124458.1:p.Glu1868Ter
NM_001130987.1:c.5758G>T NP_001124459.1:p.Glu1920Ter
NM_003494.3:c.5641G>T NP_003485.1:p.Glu1881Ter
ENST00000258104.7:c.5641G>T ENSP00000258104.3:p.Glu1881Ter
ENST00000394120.6:c.5644G>T ENSP00000377678.2:p.Glu1882Ter
ENST00000409366.5:c.5707G>T ENSP00000386512.1:p.Glu1903Ter
ENST00000409582.7:c.5755G>T ENSP00000386547.3:p.Glu1919Ter
ENST00000409651.5:c.5737G>T ENSP00000386683.1:p.Glu1913Ter
ENST00000409744.5:c.5665G>T ENSP00000386285.1:p.Glu1889Ter
ENST00000409762.5:c.5692G>T ENSP00000387137.1:p.Glu1898Ter
ENST00000410020.7:c.5758G>T ENSP00000386881.3:p.Glu1920Ter
ENST00000410041.1:c.5695G>T ENSP00000386617.1:p.Glu1899Ter
ENST00000413539.6:c.5734G>T ENSP00000407046.2:p.Glu1912Ter
ENST00000429174.6:c.5704G>T ENSP00000398305.2:p.Glu1902Ter
ENST00000479049.6:n.2526G>T
ENST00000698057.1:c.3172G>T ENSP00000513536.1:p.Glu1058Ter
ENST00000698058.1:c.2389G>T ENSP00000513537.1:p.Glu797Ter
ENST00000698059.1:c.2497G>T ENSP00000513538.1:p.Glu833Ter
XM_005264584.3:c.5800G>T XP_005264641.1:p.Glu1934Ter
XM_005264584.4:c.5800G>T XP_005264641.1:p.Glu1934Ter
XM_005264585.3:c.5797G>T XP_005264642.1:p.Glu1933Ter
XM_005264585.5:c.5797G>T XP_005264642.1:p.Glu1933Ter