Canonical Allele Identifier: CA347226788
Community Standard Title: NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71681046G>T , CM000664.2:g.71681046G>T GRCh38
NC_000002.11:g.71908176G>T , CM000664.1:g.71908176G>T GRCh37
NC_000002.10:g.71761684G>T NCBI36
NG_008694.1:g.232424G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.6109G>T MANE Select NP_001124459.1:p.Glu2037Ter
ENST00000410020.8:c.6109G>T MANE Select ENSP00000386881.3:p.Glu2037Ter
NM_003494.4:c.5992G>T MANE Plus Clinical NP_003485.1:p.Glu1998Ter
ENST00000258104.8:c.5992G>T MANE Plus Clinical ENSP00000258104.3:p.Glu1998Ter
NM_001130455.1:c.5995G>T NP_001123927.1:p.Glu1999Ter
NM_001130455.2:c.5995G>T NP_001123927.1:p.Glu1999Ter
NM_001130976.1:c.5950G>T NP_001124448.1:p.Glu1984Ter
NM_001130976.2:c.5950G>T NP_001124448.1:p.Glu1984Ter
NM_001130977.1:c.6013G>T NP_001124449.1:p.Glu2005Ter
NM_001130977.2:c.6013G>T NP_001124449.1:p.Glu2005Ter
NM_001130978.1:c.6055G>T NP_001124450.1:p.Glu2019Ter
NM_001130978.2:c.6055G>T NP_001124450.1:p.Glu2019Ter
NM_001130979.1:c.6085G>T NP_001124451.1:p.Glu2029Ter
NM_001130979.2:c.6085G>T NP_001124451.1:p.Glu2029Ter
NM_001130980.1:c.6043G>T NP_001124452.1:p.Glu2015Ter
NM_001130980.2:c.6043G>T NP_001124452.1:p.Glu2015Ter
NM_001130981.1:c.6106G>T NP_001124453.1:p.Glu2036Ter
NM_001130981.2:c.6106G>T NP_001124453.1:p.Glu2036Ter
NM_001130982.1:c.6088G>T NP_001124454.1:p.Glu2030Ter
NM_001130982.2:c.6088G>T NP_001124454.1:p.Glu2030Ter
NM_001130983.1:c.6058G>T NP_001124455.1:p.Glu2020Ter
NM_001130983.2:c.6058G>T NP_001124455.1:p.Glu2020Ter
NM_001130984.1:c.6016G>T NP_001124456.1:p.Glu2006Ter
NM_001130984.2:c.6016G>T NP_001124456.1:p.Glu2006Ter
NM_001130985.1:c.6046G>T NP_001124457.1:p.Glu2016Ter
NM_001130985.2:c.6046G>T NP_001124457.1:p.Glu2016Ter
NM_001130986.1:c.5953G>T NP_001124458.1:p.Glu1985Ter
NM_001130986.2:c.5953G>T NP_001124458.1:p.Glu1985Ter
NM_001130987.1:c.6109G>T NP_001124459.1:p.Glu2037Ter
NM_003494.3:c.5992G>T NP_003485.1:p.Glu1998Ter
ENST00000258104.7:c.5992G>T ENSP00000258104.3:p.Glu1998Ter
ENST00000394120.6:c.5995G>T ENSP00000377678.2:p.Glu1999Ter
ENST00000409366.5:c.6058G>T ENSP00000386512.1:p.Glu2020Ter
ENST00000409582.7:c.6106G>T ENSP00000386547.3:p.Glu2036Ter
ENST00000409651.5:c.6088G>T ENSP00000386683.1:p.Glu2030Ter
ENST00000409744.5:c.6016G>T ENSP00000386285.1:p.Glu2006Ter
ENST00000409762.5:c.6043G>T ENSP00000387137.1:p.Glu2015Ter
ENST00000410020.7:c.6109G>T ENSP00000386881.3:p.Glu2037Ter
ENST00000410041.1:c.6046G>T ENSP00000386617.1:p.Glu2016Ter
ENST00000413539.6:c.6085G>T ENSP00000407046.2:p.Glu2029Ter
ENST00000429174.6:c.6055G>T ENSP00000398305.2:p.Glu2019Ter
ENST00000479049.6:n.2877G>T
ENST00000698057.1:c.3523G>T ENSP00000513536.1:p.Glu1175Ter
ENST00000698058.1:c.2740G>T ENSP00000513537.1:p.Glu914Ter
ENST00000698059.1:c.2848G>T ENSP00000513538.1:p.Glu950Ter
XM_005264584.3:c.6151G>T XP_005264641.1:p.Glu2051Ter
XM_005264584.4:c.6151G>T XP_005264641.1:p.Glu2051Ter
XM_005264585.3:c.6148G>T XP_005264642.1:p.Glu2050Ter
XM_005264585.5:c.6148G>T XP_005264642.1:p.Glu2050Ter