Canonical Allele Identifier: CA347220391
Community Standard Title: NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71664350G>T , CM000664.2:g.71664350G>T GRCh38
NC_000002.11:g.71891480G>T , CM000664.1:g.71891480G>T GRCh37
NC_000002.10:g.71744988G>T NCBI36
NG_008694.1:g.215728G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5086G>T MANE Select NP_001124459.1:p.Glu1696Ter
ENST00000410020.8:c.5086G>T MANE Select ENSP00000386881.3:p.Glu1696Ter
NM_003494.4:c.4969G>T MANE Plus Clinical NP_003485.1:p.Glu1657Ter
ENST00000258104.8:c.4969G>T MANE Plus Clinical ENSP00000258104.3:p.Glu1657Ter
NM_001130455.1:c.4972G>T NP_001123927.1:p.Glu1658Ter
NM_001130455.2:c.4972G>T NP_001123927.1:p.Glu1658Ter
NM_001130976.1:c.4927G>T NP_001124448.1:p.Glu1643Ter
NM_001130976.2:c.4927G>T NP_001124448.1:p.Glu1643Ter
NM_001130977.1:c.4990G>T NP_001124449.1:p.Glu1664Ter
NM_001130977.2:c.4990G>T NP_001124449.1:p.Glu1664Ter
NM_001130978.1:c.5032G>T NP_001124450.1:p.Glu1678Ter
NM_001130978.2:c.5032G>T NP_001124450.1:p.Glu1678Ter
NM_001130979.1:c.5062G>T NP_001124451.1:p.Glu1688Ter
NM_001130979.2:c.5062G>T NP_001124451.1:p.Glu1688Ter
NM_001130980.1:c.5020G>T NP_001124452.1:p.Glu1674Ter
NM_001130980.2:c.5020G>T NP_001124452.1:p.Glu1674Ter
NM_001130981.1:c.5083G>T NP_001124453.1:p.Glu1695Ter
NM_001130981.2:c.5083G>T NP_001124453.1:p.Glu1695Ter
NM_001130982.1:c.5065G>T NP_001124454.1:p.Glu1689Ter
NM_001130982.2:c.5065G>T NP_001124454.1:p.Glu1689Ter
NM_001130983.1:c.5035G>T NP_001124455.1:p.Glu1679Ter
NM_001130983.2:c.5035G>T NP_001124455.1:p.Glu1679Ter
NM_001130984.1:c.4993G>T NP_001124456.1:p.Glu1665Ter
NM_001130984.2:c.4993G>T NP_001124456.1:p.Glu1665Ter
NM_001130985.1:c.5023G>T NP_001124457.1:p.Glu1675Ter
NM_001130985.2:c.5023G>T NP_001124457.1:p.Glu1675Ter
NM_001130986.1:c.4930G>T NP_001124458.1:p.Glu1644Ter
NM_001130986.2:c.4930G>T NP_001124458.1:p.Glu1644Ter
NM_001130987.1:c.5086G>T NP_001124459.1:p.Glu1696Ter
NM_003494.3:c.4969G>T NP_003485.1:p.Glu1657Ter
ENST00000258104.7:c.4969G>T ENSP00000258104.3:p.Glu1657Ter
ENST00000394120.6:c.4972G>T ENSP00000377678.2:p.Glu1658Ter
ENST00000409366.5:c.5035G>T ENSP00000386512.1:p.Glu1679Ter
ENST00000409582.7:c.5083G>T ENSP00000386547.3:p.Glu1695Ter
ENST00000409651.5:c.5065G>T ENSP00000386683.1:p.Glu1689Ter
ENST00000409744.5:c.4993G>T ENSP00000386285.1:p.Glu1665Ter
ENST00000409762.5:c.5020G>T ENSP00000387137.1:p.Glu1674Ter
ENST00000410020.7:c.5086G>T ENSP00000386881.3:p.Glu1696Ter
ENST00000410041.1:c.5023G>T ENSP00000386617.1:p.Glu1675Ter
ENST00000413539.6:c.5062G>T ENSP00000407046.2:p.Glu1688Ter
ENST00000429174.6:c.5032G>T ENSP00000398305.2:p.Glu1678Ter
ENST00000479049.6:n.1854G>T
ENST00000698057.1:c.2500G>T ENSP00000513536.1:p.Glu834Ter
ENST00000698058.1:c.1717G>T ENSP00000513537.1:p.Glu573Ter
ENST00000698059.1:c.1825G>T ENSP00000513538.1:p.Glu609Ter
XM_005264584.3:c.5128G>T XP_005264641.1:p.Glu1710Ter
XM_005264584.4:c.5128G>T XP_005264641.1:p.Glu1710Ter
XM_005264585.3:c.5125G>T XP_005264642.1:p.Glu1709Ter
XM_005264585.5:c.5125G>T XP_005264642.1:p.Glu1709Ter
XR_001738969.1:n.5286G>T