Canonical Allele Identifier: CA1707349
Community Standard Title: NM_001130987.2(DYSF):c.5389C>T (p.Gln1797Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71667447C>T , CM000664.2:g.71667447C>T GRCh38
NC_000002.11:g.71894577C>T , CM000664.1:g.71894577C>T GRCh37
NC_000002.10:g.71748085C>T NCBI36
NG_008694.1:g.218825C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5389C>T MANE Select NP_001124459.1:p.Gln1797Ter
ENST00000410020.8:c.5389C>T MANE Select ENSP00000386881.3:p.Gln1797Ter
NM_003494.4:c.5272C>T MANE Plus Clinical NP_003485.1:p.Gln1758Ter
ENST00000258104.8:c.5272C>T MANE Plus Clinical ENSP00000258104.3:p.Gln1758Ter
NM_001130455.1:c.5275C>T NP_001123927.1:p.Gln1759Ter
NM_001130455.2:c.5275C>T NP_001123927.1:p.Gln1759Ter
NM_001130976.1:c.5230C>T NP_001124448.1:p.Gln1744Ter
NM_001130976.2:c.5230C>T NP_001124448.1:p.Gln1744Ter
NM_001130977.1:c.5293C>T NP_001124449.1:p.Gln1765Ter
NM_001130977.2:c.5293C>T NP_001124449.1:p.Gln1765Ter
NM_001130978.1:c.5335C>T NP_001124450.1:p.Gln1779Ter
NM_001130978.2:c.5335C>T NP_001124450.1:p.Gln1779Ter
NM_001130979.1:c.5365C>T NP_001124451.1:p.Gln1789Ter
NM_001130979.2:c.5365C>T NP_001124451.1:p.Gln1789Ter
NM_001130980.1:c.5323C>T NP_001124452.1:p.Gln1775Ter
NM_001130980.2:c.5323C>T NP_001124452.1:p.Gln1775Ter
NM_001130981.1:c.5386C>T NP_001124453.1:p.Gln1796Ter
NM_001130981.2:c.5386C>T NP_001124453.1:p.Gln1796Ter
NM_001130982.1:c.5368C>T NP_001124454.1:p.Gln1790Ter
NM_001130982.2:c.5368C>T NP_001124454.1:p.Gln1790Ter
NM_001130983.1:c.5338C>T NP_001124455.1:p.Gln1780Ter
NM_001130983.2:c.5338C>T NP_001124455.1:p.Gln1780Ter
NM_001130984.1:c.5296C>T NP_001124456.1:p.Gln1766Ter
NM_001130984.2:c.5296C>T NP_001124456.1:p.Gln1766Ter
NM_001130985.1:c.5326C>T NP_001124457.1:p.Gln1776Ter
NM_001130985.2:c.5326C>T NP_001124457.1:p.Gln1776Ter
NM_001130986.1:c.5233C>T NP_001124458.1:p.Gln1745Ter
NM_001130986.2:c.5233C>T NP_001124458.1:p.Gln1745Ter
NM_001130987.1:c.5389C>T NP_001124459.1:p.Gln1797Ter
NM_003494.3:c.5272C>T NP_003485.1:p.Gln1758Ter
ENST00000258104.7:c.5272C>T ENSP00000258104.3:p.Gln1758Ter
ENST00000394120.6:c.5275C>T ENSP00000377678.2:p.Gln1759Ter
ENST00000409366.5:c.5338C>T ENSP00000386512.1:p.Gln1780Ter
ENST00000409582.7:c.5386C>T ENSP00000386547.3:p.Gln1796Ter
ENST00000409651.5:c.5368C>T ENSP00000386683.1:p.Gln1790Ter
ENST00000409744.5:c.5296C>T ENSP00000386285.1:p.Gln1766Ter
ENST00000409762.5:c.5323C>T ENSP00000387137.1:p.Gln1775Ter
ENST00000410020.7:c.5389C>T ENSP00000386881.3:p.Gln1797Ter
ENST00000410041.1:c.5326C>T ENSP00000386617.1:p.Gln1776Ter
ENST00000413539.6:c.5365C>T ENSP00000407046.2:p.Gln1789Ter
ENST00000429174.6:c.5335C>T ENSP00000398305.2:p.Gln1779Ter
ENST00000479049.6:n.2157C>T
ENST00000698057.1:c.2803C>T ENSP00000513536.1:p.Gln935Ter
ENST00000698058.1:c.2020C>T ENSP00000513537.1:p.Gln674Ter
ENST00000698059.1:c.2128C>T ENSP00000513538.1:p.Gln710Ter
XM_005264584.3:c.5431C>T XP_005264641.1:p.Gln1811Ter
XM_005264584.4:c.5431C>T XP_005264641.1:p.Gln1811Ter
XM_005264585.3:c.5428C>T XP_005264642.1:p.Gln1810Ter
XM_005264585.5:c.5428C>T XP_005264642.1:p.Gln1810Ter