Canonical Allele Identifier: CA347221143
Community Standard Title: NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71665280A>T , CM000664.2:g.71665280A>T GRCh38
NC_000002.11:g.71892410A>T , CM000664.1:g.71892410A>T GRCh37
NC_000002.10:g.71745918A>T NCBI36
NG_008694.1:g.216658A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5293A>T MANE Select NP_001124459.1:p.Lys1765Ter
ENST00000410020.8:c.5293A>T MANE Select ENSP00000386881.3:p.Lys1765Ter
NM_003494.4:c.5176A>T MANE Plus Clinical NP_003485.1:p.Lys1726Ter
ENST00000258104.8:c.5176A>T MANE Plus Clinical ENSP00000258104.3:p.Lys1726Ter
NM_001130455.1:c.5179A>T NP_001123927.1:p.Lys1727Ter
NM_001130455.2:c.5179A>T NP_001123927.1:p.Lys1727Ter
NM_001130976.1:c.5134A>T NP_001124448.1:p.Lys1712Ter
NM_001130976.2:c.5134A>T NP_001124448.1:p.Lys1712Ter
NM_001130977.1:c.5197A>T NP_001124449.1:p.Lys1733Ter
NM_001130977.2:c.5197A>T NP_001124449.1:p.Lys1733Ter
NM_001130978.1:c.5239A>T NP_001124450.1:p.Lys1747Ter
NM_001130978.2:c.5239A>T NP_001124450.1:p.Lys1747Ter
NM_001130979.1:c.5269A>T NP_001124451.1:p.Lys1757Ter
NM_001130979.2:c.5269A>T NP_001124451.1:p.Lys1757Ter
NM_001130980.1:c.5227A>T NP_001124452.1:p.Lys1743Ter
NM_001130980.2:c.5227A>T NP_001124452.1:p.Lys1743Ter
NM_001130981.1:c.5290A>T NP_001124453.1:p.Lys1764Ter
NM_001130981.2:c.5290A>T NP_001124453.1:p.Lys1764Ter
NM_001130982.1:c.5272A>T NP_001124454.1:p.Lys1758Ter
NM_001130982.2:c.5272A>T NP_001124454.1:p.Lys1758Ter
NM_001130983.1:c.5242A>T NP_001124455.1:p.Lys1748Ter
NM_001130983.2:c.5242A>T NP_001124455.1:p.Lys1748Ter
NM_001130984.1:c.5200A>T NP_001124456.1:p.Lys1734Ter
NM_001130984.2:c.5200A>T NP_001124456.1:p.Lys1734Ter
NM_001130985.1:c.5230A>T NP_001124457.1:p.Lys1744Ter
NM_001130985.2:c.5230A>T NP_001124457.1:p.Lys1744Ter
NM_001130986.1:c.5137A>T NP_001124458.1:p.Lys1713Ter
NM_001130986.2:c.5137A>T NP_001124458.1:p.Lys1713Ter
NM_001130987.1:c.5293A>T NP_001124459.1:p.Lys1765Ter
NM_003494.3:c.5176A>T NP_003485.1:p.Lys1726Ter
ENST00000258104.7:c.5176A>T ENSP00000258104.3:p.Lys1726Ter
ENST00000394120.6:c.5179A>T ENSP00000377678.2:p.Lys1727Ter
ENST00000409366.5:c.5242A>T ENSP00000386512.1:p.Lys1748Ter
ENST00000409582.7:c.5290A>T ENSP00000386547.3:p.Lys1764Ter
ENST00000409651.5:c.5272A>T ENSP00000386683.1:p.Lys1758Ter
ENST00000409744.5:c.5200A>T ENSP00000386285.1:p.Lys1734Ter
ENST00000409762.5:c.5227A>T ENSP00000387137.1:p.Lys1743Ter
ENST00000410020.7:c.5293A>T ENSP00000386881.3:p.Lys1765Ter
ENST00000410041.1:c.5230A>T ENSP00000386617.1:p.Lys1744Ter
ENST00000413539.6:c.5269A>T ENSP00000407046.2:p.Lys1757Ter
ENST00000429174.6:c.5239A>T ENSP00000398305.2:p.Lys1747Ter
ENST00000479049.6:n.2061A>T
ENST00000698057.1:c.2707A>T ENSP00000513536.1:p.Lys903Ter
ENST00000698058.1:c.1924A>T ENSP00000513537.1:p.Lys642Ter
ENST00000698059.1:c.2032A>T ENSP00000513538.1:p.Lys678Ter
XM_005264584.3:c.5335A>T XP_005264641.1:p.Lys1779Ter
XM_005264584.4:c.5335A>T XP_005264641.1:p.Lys1779Ter
XM_005264585.3:c.5332A>T XP_005264642.1:p.Lys1778Ter
XM_005264585.5:c.5332A>T XP_005264642.1:p.Lys1778Ter