Canonical Allele Identifier: CA347221149
Community Standard Title: NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71665283G>T , CM000664.2:g.71665283G>T GRCh38
NC_000002.11:g.71892413G>T , CM000664.1:g.71892413G>T GRCh37
NC_000002.10:g.71745921G>T NCBI36
NG_008694.1:g.216661G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5296G>T MANE Select NP_001124459.1:p.Glu1766Ter
ENST00000410020.8:c.5296G>T MANE Select ENSP00000386881.3:p.Glu1766Ter
NM_003494.4:c.5179G>T MANE Plus Clinical NP_003485.1:p.Glu1727Ter
ENST00000258104.8:c.5179G>T MANE Plus Clinical ENSP00000258104.3:p.Glu1727Ter
NM_001130455.1:c.5182G>T NP_001123927.1:p.Glu1728Ter
NM_001130455.2:c.5182G>T NP_001123927.1:p.Glu1728Ter
NM_001130976.1:c.5137G>T NP_001124448.1:p.Glu1713Ter
NM_001130976.2:c.5137G>T NP_001124448.1:p.Glu1713Ter
NM_001130977.1:c.5200G>T NP_001124449.1:p.Glu1734Ter
NM_001130977.2:c.5200G>T NP_001124449.1:p.Glu1734Ter
NM_001130978.1:c.5242G>T NP_001124450.1:p.Glu1748Ter
NM_001130978.2:c.5242G>T NP_001124450.1:p.Glu1748Ter
NM_001130979.1:c.5272G>T NP_001124451.1:p.Glu1758Ter
NM_001130979.2:c.5272G>T NP_001124451.1:p.Glu1758Ter
NM_001130980.1:c.5230G>T NP_001124452.1:p.Glu1744Ter
NM_001130980.2:c.5230G>T NP_001124452.1:p.Glu1744Ter
NM_001130981.1:c.5293G>T NP_001124453.1:p.Glu1765Ter
NM_001130981.2:c.5293G>T NP_001124453.1:p.Glu1765Ter
NM_001130982.1:c.5275G>T NP_001124454.1:p.Glu1759Ter
NM_001130982.2:c.5275G>T NP_001124454.1:p.Glu1759Ter
NM_001130983.1:c.5245G>T NP_001124455.1:p.Glu1749Ter
NM_001130983.2:c.5245G>T NP_001124455.1:p.Glu1749Ter
NM_001130984.1:c.5203G>T NP_001124456.1:p.Glu1735Ter
NM_001130984.2:c.5203G>T NP_001124456.1:p.Glu1735Ter
NM_001130985.1:c.5233G>T NP_001124457.1:p.Glu1745Ter
NM_001130985.2:c.5233G>T NP_001124457.1:p.Glu1745Ter
NM_001130986.1:c.5140G>T NP_001124458.1:p.Glu1714Ter
NM_001130986.2:c.5140G>T NP_001124458.1:p.Glu1714Ter
NM_001130987.1:c.5296G>T NP_001124459.1:p.Glu1766Ter
NM_003494.3:c.5179G>T NP_003485.1:p.Glu1727Ter
ENST00000258104.7:c.5179G>T ENSP00000258104.3:p.Glu1727Ter
ENST00000394120.6:c.5182G>T ENSP00000377678.2:p.Glu1728Ter
ENST00000409366.5:c.5245G>T ENSP00000386512.1:p.Glu1749Ter
ENST00000409582.7:c.5293G>T ENSP00000386547.3:p.Glu1765Ter
ENST00000409651.5:c.5275G>T ENSP00000386683.1:p.Glu1759Ter
ENST00000409744.5:c.5203G>T ENSP00000386285.1:p.Glu1735Ter
ENST00000409762.5:c.5230G>T ENSP00000387137.1:p.Glu1744Ter
ENST00000410020.7:c.5296G>T ENSP00000386881.3:p.Glu1766Ter
ENST00000410041.1:c.5233G>T ENSP00000386617.1:p.Glu1745Ter
ENST00000413539.6:c.5272G>T ENSP00000407046.2:p.Glu1758Ter
ENST00000429174.6:c.5242G>T ENSP00000398305.2:p.Glu1748Ter
ENST00000479049.6:n.2064G>T
ENST00000698057.1:c.2710G>T ENSP00000513536.1:p.Glu904Ter
ENST00000698058.1:c.1927G>T ENSP00000513537.1:p.Glu643Ter
ENST00000698059.1:c.2035G>T ENSP00000513538.1:p.Glu679Ter
XM_005264584.3:c.5338G>T XP_005264641.1:p.Glu1780Ter
XM_005264584.4:c.5338G>T XP_005264641.1:p.Glu1780Ter
XM_005264585.3:c.5335G>T XP_005264642.1:p.Glu1779Ter
XM_005264585.5:c.5335G>T XP_005264642.1:p.Glu1779Ter