Canonical Allele Identifier: CA347226317
Gene: DYSF HGNC NCBI

Linked Data

gnomAD v4: 2-71679108-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71679108A>G , CM000664.2:g.71679108A>G GRCh38
NC_000002.11:g.71906238A>G , CM000664.1:g.71906238A>G GRCh37
NC_000002.10:g.71759746A>G NCBI36
NG_008694.1:g.230486A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698057.1:c.3350A>G ENSP00000513536.1:p.Lys1117Arg
ENST00000698058.1:c.2567A>G ENSP00000513537.1:p.Lys856Arg
ENST00000698059.1:c.2675A>G ENSP00000513538.1:p.Lys892Arg
ENST00000258104.8:c.5819A>G MANE Plus Clinical ENSP00000258104.3:p.Lys1940Arg
ENST00000410020.8:c.5936A>G MANE Select ENSP00000386881.3:p.Lys1979Arg
ENST00000258104.7:c.5819A>G ENSP00000258104.3:p.Lys1940Arg
ENST00000394120.6:c.5822A>G ENSP00000377678.2:p.Lys1941Arg
ENST00000409366.5:c.5885A>G ENSP00000386512.1:p.Lys1962Arg
ENST00000409582.7:c.5933A>G ENSP00000386547.3:p.Lys1978Arg
ENST00000409651.5:c.5915A>G ENSP00000386683.1:p.Lys1972Arg
ENST00000409744.5:c.5843A>G ENSP00000386285.1:p.Lys1948Arg
ENST00000409762.5:c.5870A>G ENSP00000387137.1:p.Lys1957Arg
ENST00000410020.7:c.5936A>G ENSP00000386881.3:p.Lys1979Arg
ENST00000410041.1:c.5873A>G ENSP00000386617.1:p.Lys1958Arg
ENST00000413539.6:c.5912A>G ENSP00000407046.2:p.Lys1971Arg
ENST00000429174.6:c.5882A>G ENSP00000398305.2:p.Lys1961Arg
ENST00000479049.6:n.2704A>G
NM_001130455.1:c.5822A>G NP_001123927.1:p.Lys1941Arg
NM_001130976.1:c.5777A>G NP_001124448.1:p.Lys1926Arg
NM_001130977.1:c.5840A>G NP_001124449.1:p.Lys1947Arg
NM_001130978.1:c.5882A>G NP_001124450.1:p.Lys1961Arg
NM_001130979.1:c.5912A>G NP_001124451.1:p.Lys1971Arg
NM_001130980.1:c.5870A>G NP_001124452.1:p.Lys1957Arg
NM_001130981.1:c.5933A>G NP_001124453.1:p.Lys1978Arg
NM_001130982.1:c.5915A>G NP_001124454.1:p.Lys1972Arg
NM_001130983.1:c.5885A>G NP_001124455.1:p.Lys1962Arg
NM_001130984.1:c.5843A>G NP_001124456.1:p.Lys1948Arg
NM_001130985.1:c.5873A>G NP_001124457.1:p.Lys1958Arg
NM_001130986.1:c.5780A>G NP_001124458.1:p.Lys1927Arg
NM_001130987.1:c.5936A>G NP_001124459.1:p.Lys1979Arg
NM_003494.3:c.5819A>G NP_003485.1:p.Lys1940Arg
XM_005264584.3:c.5978A>G XP_005264641.1:p.Lys1993Arg
XM_005264585.3:c.5975A>G XP_005264642.1:p.Lys1992Arg
XM_005264584.4:c.5978A>G XP_005264641.1:p.Lys1993Arg
XM_005264585.5:c.5975A>G XP_005264642.1:p.Lys1992Arg
NM_001130987.2:c.5936A>G MANE Select NP_001124459.1:p.Lys1979Arg
NM_001130455.2:c.5822A>G NP_001123927.1:p.Lys1941Arg
NM_001130976.2:c.5777A>G NP_001124448.1:p.Lys1926Arg
NM_001130977.2:c.5840A>G NP_001124449.1:p.Lys1947Arg
NM_001130978.2:c.5882A>G NP_001124450.1:p.Lys1961Arg
NM_001130979.2:c.5912A>G NP_001124451.1:p.Lys1971Arg
NM_001130980.2:c.5870A>G NP_001124452.1:p.Lys1957Arg
NM_001130981.2:c.5933A>G NP_001124453.1:p.Lys1978Arg
NM_001130982.2:c.5915A>G NP_001124454.1:p.Lys1972Arg
NM_001130983.2:c.5885A>G NP_001124455.1:p.Lys1962Arg
NM_001130984.2:c.5843A>G NP_001124456.1:p.Lys1948Arg
NM_001130985.2:c.5873A>G NP_001124457.1:p.Lys1958Arg
NM_001130986.2:c.5780A>G NP_001124458.1:p.Lys1927Arg
NM_003494.4:c.5819A>G MANE Plus Clinical NP_003485.1:p.Lys1940Arg