Canonical Allele Identifier: CA347221175
Community Standard Title: NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71665295G>T , CM000664.2:g.71665295G>T GRCh38
NC_000002.11:g.71892425G>T , CM000664.1:g.71892425G>T GRCh37
NC_000002.10:g.71745933G>T NCBI36
NG_008694.1:g.216673G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5308G>T MANE Select NP_001124459.1:p.Glu1770Ter
ENST00000410020.8:c.5308G>T MANE Select ENSP00000386881.3:p.Glu1770Ter
NM_003494.4:c.5191G>T MANE Plus Clinical NP_003485.1:p.Glu1731Ter
ENST00000258104.8:c.5191G>T MANE Plus Clinical ENSP00000258104.3:p.Glu1731Ter
NM_001130455.1:c.5194G>T NP_001123927.1:p.Glu1732Ter
NM_001130455.2:c.5194G>T NP_001123927.1:p.Glu1732Ter
NM_001130976.1:c.5149G>T NP_001124448.1:p.Glu1717Ter
NM_001130976.2:c.5149G>T NP_001124448.1:p.Glu1717Ter
NM_001130977.1:c.5212G>T NP_001124449.1:p.Glu1738Ter
NM_001130977.2:c.5212G>T NP_001124449.1:p.Glu1738Ter
NM_001130978.1:c.5254G>T NP_001124450.1:p.Glu1752Ter
NM_001130978.2:c.5254G>T NP_001124450.1:p.Glu1752Ter
NM_001130979.1:c.5284G>T NP_001124451.1:p.Glu1762Ter
NM_001130979.2:c.5284G>T NP_001124451.1:p.Glu1762Ter
NM_001130980.1:c.5242G>T NP_001124452.1:p.Glu1748Ter
NM_001130980.2:c.5242G>T NP_001124452.1:p.Glu1748Ter
NM_001130981.1:c.5305G>T NP_001124453.1:p.Glu1769Ter
NM_001130981.2:c.5305G>T NP_001124453.1:p.Glu1769Ter
NM_001130982.1:c.5287G>T NP_001124454.1:p.Glu1763Ter
NM_001130982.2:c.5287G>T NP_001124454.1:p.Glu1763Ter
NM_001130983.1:c.5257G>T NP_001124455.1:p.Glu1753Ter
NM_001130983.2:c.5257G>T NP_001124455.1:p.Glu1753Ter
NM_001130984.1:c.5215G>T NP_001124456.1:p.Glu1739Ter
NM_001130984.2:c.5215G>T NP_001124456.1:p.Glu1739Ter
NM_001130985.1:c.5245G>T NP_001124457.1:p.Glu1749Ter
NM_001130985.2:c.5245G>T NP_001124457.1:p.Glu1749Ter
NM_001130986.1:c.5152G>T NP_001124458.1:p.Glu1718Ter
NM_001130986.2:c.5152G>T NP_001124458.1:p.Glu1718Ter
NM_001130987.1:c.5308G>T NP_001124459.1:p.Glu1770Ter
NM_003494.3:c.5191G>T NP_003485.1:p.Glu1731Ter
ENST00000258104.7:c.5191G>T ENSP00000258104.3:p.Glu1731Ter
ENST00000394120.6:c.5194G>T ENSP00000377678.2:p.Glu1732Ter
ENST00000409366.5:c.5257G>T ENSP00000386512.1:p.Glu1753Ter
ENST00000409582.7:c.5305G>T ENSP00000386547.3:p.Glu1769Ter
ENST00000409651.5:c.5287G>T ENSP00000386683.1:p.Glu1763Ter
ENST00000409744.5:c.5215G>T ENSP00000386285.1:p.Glu1739Ter
ENST00000409762.5:c.5242G>T ENSP00000387137.1:p.Glu1748Ter
ENST00000410020.7:c.5308G>T ENSP00000386881.3:p.Glu1770Ter
ENST00000410041.1:c.5245G>T ENSP00000386617.1:p.Glu1749Ter
ENST00000413539.6:c.5284G>T ENSP00000407046.2:p.Glu1762Ter
ENST00000429174.6:c.5254G>T ENSP00000398305.2:p.Glu1752Ter
ENST00000479049.6:n.2076G>T
ENST00000698057.1:c.2722G>T ENSP00000513536.1:p.Glu908Ter
ENST00000698058.1:c.1939G>T ENSP00000513537.1:p.Glu647Ter
ENST00000698059.1:c.2047G>T ENSP00000513538.1:p.Glu683Ter
XM_005264584.3:c.5350G>T XP_005264641.1:p.Glu1784Ter
XM_005264584.4:c.5350G>T XP_005264641.1:p.Glu1784Ter
XM_005264585.3:c.5347G>T XP_005264642.1:p.Glu1783Ter
XM_005264585.5:c.5347G>T XP_005264642.1:p.Glu1783Ter