Canonical Allele Identifier: CA347220924
Community Standard Title: NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71665175C>T , CM000664.2:g.71665175C>T GRCh38
NC_000002.11:g.71892305C>T , CM000664.1:g.71892305C>T GRCh37
NC_000002.10:g.71745813C>T NCBI36
NG_008694.1:g.216553C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5188C>T MANE Select NP_001124459.1:p.Gln1730Ter
ENST00000410020.8:c.5188C>T MANE Select ENSP00000386881.3:p.Gln1730Ter
NM_003494.4:c.5071C>T MANE Plus Clinical NP_003485.1:p.Gln1691Ter
ENST00000258104.8:c.5071C>T MANE Plus Clinical ENSP00000258104.3:p.Gln1691Ter
NM_001130455.1:c.5074C>T NP_001123927.1:p.Gln1692Ter
NM_001130455.2:c.5074C>T NP_001123927.1:p.Gln1692Ter
NM_001130976.1:c.5029C>T NP_001124448.1:p.Gln1677Ter
NM_001130976.2:c.5029C>T NP_001124448.1:p.Gln1677Ter
NM_001130977.1:c.5092C>T NP_001124449.1:p.Gln1698Ter
NM_001130977.2:c.5092C>T NP_001124449.1:p.Gln1698Ter
NM_001130978.1:c.5134C>T NP_001124450.1:p.Gln1712Ter
NM_001130978.2:c.5134C>T NP_001124450.1:p.Gln1712Ter
NM_001130979.1:c.5164C>T NP_001124451.1:p.Gln1722Ter
NM_001130979.2:c.5164C>T NP_001124451.1:p.Gln1722Ter
NM_001130980.1:c.5122C>T NP_001124452.1:p.Gln1708Ter
NM_001130980.2:c.5122C>T NP_001124452.1:p.Gln1708Ter
NM_001130981.1:c.5185C>T NP_001124453.1:p.Gln1729Ter
NM_001130981.2:c.5185C>T NP_001124453.1:p.Gln1729Ter
NM_001130982.1:c.5167C>T NP_001124454.1:p.Gln1723Ter
NM_001130982.2:c.5167C>T NP_001124454.1:p.Gln1723Ter
NM_001130983.1:c.5137C>T NP_001124455.1:p.Gln1713Ter
NM_001130983.2:c.5137C>T NP_001124455.1:p.Gln1713Ter
NM_001130984.1:c.5095C>T NP_001124456.1:p.Gln1699Ter
NM_001130984.2:c.5095C>T NP_001124456.1:p.Gln1699Ter
NM_001130985.1:c.5125C>T NP_001124457.1:p.Gln1709Ter
NM_001130985.2:c.5125C>T NP_001124457.1:p.Gln1709Ter
NM_001130986.1:c.5032C>T NP_001124458.1:p.Gln1678Ter
NM_001130986.2:c.5032C>T NP_001124458.1:p.Gln1678Ter
NM_001130987.1:c.5188C>T NP_001124459.1:p.Gln1730Ter
NM_003494.3:c.5071C>T NP_003485.1:p.Gln1691Ter
ENST00000258104.7:c.5071C>T ENSP00000258104.3:p.Gln1691Ter
ENST00000394120.6:c.5074C>T ENSP00000377678.2:p.Gln1692Ter
ENST00000409366.5:c.5137C>T ENSP00000386512.1:p.Gln1713Ter
ENST00000409582.7:c.5185C>T ENSP00000386547.3:p.Gln1729Ter
ENST00000409651.5:c.5167C>T ENSP00000386683.1:p.Gln1723Ter
ENST00000409744.5:c.5095C>T ENSP00000386285.1:p.Gln1699Ter
ENST00000409762.5:c.5122C>T ENSP00000387137.1:p.Gln1708Ter
ENST00000410020.7:c.5188C>T ENSP00000386881.3:p.Gln1730Ter
ENST00000410041.1:c.5125C>T ENSP00000386617.1:p.Gln1709Ter
ENST00000413539.6:c.5164C>T ENSP00000407046.2:p.Gln1722Ter
ENST00000429174.6:c.5134C>T ENSP00000398305.2:p.Gln1712Ter
ENST00000479049.6:n.1956C>T
ENST00000698057.1:c.2602C>T ENSP00000513536.1:p.Gln868Ter
ENST00000698058.1:c.1819C>T ENSP00000513537.1:p.Gln607Ter
ENST00000698059.1:c.1927C>T ENSP00000513538.1:p.Gln643Ter
XM_005264584.3:c.5230C>T XP_005264641.1:p.Gln1744Ter
XM_005264584.4:c.5230C>T XP_005264641.1:p.Gln1744Ter
XM_005264585.3:c.5227C>T XP_005264642.1:p.Gln1743Ter
XM_005264585.5:c.5227C>T XP_005264642.1:p.Gln1743Ter
XR_001738969.1:n.5586C>T