Canonical Allele Identifier: CA347221467
Community Standard Title: NM_001130987.2(DYSF):c.5440C>T (p.Gln1814Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71667498C>T , CM000664.2:g.71667498C>T GRCh38
NC_000002.11:g.71894628C>T , CM000664.1:g.71894628C>T GRCh37
NC_000002.10:g.71748136C>T NCBI36
NG_008694.1:g.218876C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5440C>T MANE Select NP_001124459.1:p.Gln1814Ter
ENST00000410020.8:c.5440C>T MANE Select ENSP00000386881.3:p.Gln1814Ter
NM_003494.4:c.5323C>T MANE Plus Clinical NP_003485.1:p.Gln1775Ter
ENST00000258104.8:c.5323C>T MANE Plus Clinical ENSP00000258104.3:p.Gln1775Ter
NM_001130455.1:c.5326C>T NP_001123927.1:p.Gln1776Ter
NM_001130455.2:c.5326C>T NP_001123927.1:p.Gln1776Ter
NM_001130976.1:c.5281C>T NP_001124448.1:p.Gln1761Ter
NM_001130976.2:c.5281C>T NP_001124448.1:p.Gln1761Ter
NM_001130977.1:c.5344C>T NP_001124449.1:p.Gln1782Ter
NM_001130977.2:c.5344C>T NP_001124449.1:p.Gln1782Ter
NM_001130978.1:c.5386C>T NP_001124450.1:p.Gln1796Ter
NM_001130978.2:c.5386C>T NP_001124450.1:p.Gln1796Ter
NM_001130979.1:c.5416C>T NP_001124451.1:p.Gln1806Ter
NM_001130979.2:c.5416C>T NP_001124451.1:p.Gln1806Ter
NM_001130980.1:c.5374C>T NP_001124452.1:p.Gln1792Ter
NM_001130980.2:c.5374C>T NP_001124452.1:p.Gln1792Ter
NM_001130981.1:c.5437C>T NP_001124453.1:p.Gln1813Ter
NM_001130981.2:c.5437C>T NP_001124453.1:p.Gln1813Ter
NM_001130982.1:c.5419C>T NP_001124454.1:p.Gln1807Ter
NM_001130982.2:c.5419C>T NP_001124454.1:p.Gln1807Ter
NM_001130983.1:c.5389C>T NP_001124455.1:p.Gln1797Ter
NM_001130983.2:c.5389C>T NP_001124455.1:p.Gln1797Ter
NM_001130984.1:c.5347C>T NP_001124456.1:p.Gln1783Ter
NM_001130984.2:c.5347C>T NP_001124456.1:p.Gln1783Ter
NM_001130985.1:c.5377C>T NP_001124457.1:p.Gln1793Ter
NM_001130985.2:c.5377C>T NP_001124457.1:p.Gln1793Ter
NM_001130986.1:c.5284C>T NP_001124458.1:p.Gln1762Ter
NM_001130986.2:c.5284C>T NP_001124458.1:p.Gln1762Ter
NM_001130987.1:c.5440C>T NP_001124459.1:p.Gln1814Ter
NM_003494.3:c.5323C>T NP_003485.1:p.Gln1775Ter
ENST00000258104.7:c.5323C>T ENSP00000258104.3:p.Gln1775Ter
ENST00000394120.6:c.5326C>T ENSP00000377678.2:p.Gln1776Ter
ENST00000409366.5:c.5389C>T ENSP00000386512.1:p.Gln1797Ter
ENST00000409582.7:c.5437C>T ENSP00000386547.3:p.Gln1813Ter
ENST00000409651.5:c.5419C>T ENSP00000386683.1:p.Gln1807Ter
ENST00000409744.5:c.5347C>T ENSP00000386285.1:p.Gln1783Ter
ENST00000409762.5:c.5374C>T ENSP00000387137.1:p.Gln1792Ter
ENST00000410020.7:c.5440C>T ENSP00000386881.3:p.Gln1814Ter
ENST00000410041.1:c.5377C>T ENSP00000386617.1:p.Gln1793Ter
ENST00000413539.6:c.5416C>T ENSP00000407046.2:p.Gln1806Ter
ENST00000429174.6:c.5386C>T ENSP00000398305.2:p.Gln1796Ter
ENST00000479049.6:n.2208C>T
ENST00000698057.1:c.2854C>T ENSP00000513536.1:p.Gln952Ter
ENST00000698058.1:c.2071C>T ENSP00000513537.1:p.Gln691Ter
ENST00000698059.1:c.2179C>T ENSP00000513538.1:p.Gln727Ter
XM_005264584.3:c.5482C>T XP_005264641.1:p.Gln1828Ter
XM_005264584.4:c.5482C>T XP_005264641.1:p.Gln1828Ter
XM_005264585.3:c.5479C>T XP_005264642.1:p.Gln1827Ter
XM_005264585.5:c.5479C>T XP_005264642.1:p.Gln1827Ter