Canonical Allele Identifier: CA118412
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6676
dbSNP Id: rs121908959
gnomAD v2: 2-71901372-C-T
gnomAD v3: 2-71674242-C-T
gnomAD v4: 2-71674242-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71674242C>T , CM000664.2:g.71674242C>T GRCh38
NC_000002.11:g.71901372C>T , CM000664.1:g.71901372C>T GRCh37
NC_000002.10:g.71754880C>T NCBI36
NG_008694.1:g.225620C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698057.1:c.3244C>T ENSP00000513536.1:p.Arg1082Ter
ENST00000698058.1:c.2461C>T ENSP00000513537.1:p.Arg821Ter
ENST00000698059.1:c.2569C>T ENSP00000513538.1:p.Arg857Ter
ENST00000258104.8:c.5713C>T MANE Plus Clinical ENSP00000258104.3:p.Arg1905Ter
ENST00000410020.8:c.5830C>T MANE Select ENSP00000386881.3:p.Arg1944Ter
ENST00000258104.7:c.5713C>T ENSP00000258104.3:p.Arg1905Ter
ENST00000394120.6:c.5716C>T ENSP00000377678.2:p.Arg1906Ter
ENST00000409366.5:c.5779C>T ENSP00000386512.1:p.Arg1927Ter
ENST00000409582.7:c.5827C>T ENSP00000386547.3:p.Arg1943Ter
ENST00000409651.5:c.5809C>T ENSP00000386683.1:p.Arg1937Ter
ENST00000409744.5:c.5737C>T ENSP00000386285.1:p.Arg1913Ter
ENST00000409762.5:c.5764C>T ENSP00000387137.1:p.Arg1922Ter
ENST00000410020.7:c.5830C>T ENSP00000386881.3:p.Arg1944Ter
ENST00000410041.1:c.5767C>T ENSP00000386617.1:p.Arg1923Ter
ENST00000413539.6:c.5806C>T ENSP00000407046.2:p.Arg1936Ter
ENST00000429174.6:c.5776C>T ENSP00000398305.2:p.Arg1926Ter
ENST00000479049.6:n.2598C>T
NM_001130455.1:c.5716C>T NP_001123927.1:p.Arg1906Ter
NM_001130976.1:c.5671C>T NP_001124448.1:p.Arg1891Ter
NM_001130977.1:c.5734C>T NP_001124449.1:p.Arg1912Ter
NM_001130978.1:c.5776C>T NP_001124450.1:p.Arg1926Ter
NM_001130979.1:c.5806C>T NP_001124451.1:p.Arg1936Ter
NM_001130980.1:c.5764C>T NP_001124452.1:p.Arg1922Ter
NM_001130981.1:c.5827C>T NP_001124453.1:p.Arg1943Ter
NM_001130982.1:c.5809C>T NP_001124454.1:p.Arg1937Ter
NM_001130983.1:c.5779C>T NP_001124455.1:p.Arg1927Ter
NM_001130984.1:c.5737C>T NP_001124456.1:p.Arg1913Ter
NM_001130985.1:c.5767C>T NP_001124457.1:p.Arg1923Ter
NM_001130986.1:c.5674C>T NP_001124458.1:p.Arg1892Ter
NM_001130987.1:c.5830C>T NP_001124459.1:p.Arg1944Ter
NM_003494.3:c.5713C>T NP_003485.1:p.Arg1905Ter
XM_005264584.3:c.5872C>T XP_005264641.1:p.Arg1958Ter
XM_005264585.3:c.5869C>T XP_005264642.1:p.Arg1957Ter
XM_005264584.4:c.5872C>T XP_005264641.1:p.Arg1958Ter
XM_005264585.5:c.5869C>T XP_005264642.1:p.Arg1957Ter
NM_001130987.2:c.5830C>T MANE Select NP_001124459.1:p.Arg1944Ter
NM_001130455.2:c.5716C>T NP_001123927.1:p.Arg1906Ter
NM_001130976.2:c.5671C>T NP_001124448.1:p.Arg1891Ter
NM_001130977.2:c.5734C>T NP_001124449.1:p.Arg1912Ter
NM_001130978.2:c.5776C>T NP_001124450.1:p.Arg1926Ter
NM_001130979.2:c.5806C>T NP_001124451.1:p.Arg1936Ter
NM_001130980.2:c.5764C>T NP_001124452.1:p.Arg1922Ter
NM_001130981.2:c.5827C>T NP_001124453.1:p.Arg1943Ter
NM_001130982.2:c.5809C>T NP_001124454.1:p.Arg1937Ter
NM_001130983.2:c.5779C>T NP_001124455.1:p.Arg1927Ter
NM_001130984.2:c.5737C>T NP_001124456.1:p.Arg1913Ter
NM_001130985.2:c.5767C>T NP_001124457.1:p.Arg1923Ter
NM_001130986.2:c.5674C>T NP_001124458.1:p.Arg1892Ter
NM_003494.4:c.5713C>T MANE Plus Clinical NP_003485.1:p.Arg1905Ter