Canonical Allele Identifier: CA347223886

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669691T>C , CM000664.2:g.71669691T>C	GRCh38
NC_000002.11:g.71896821T>C , CM000664.1:g.71896821T>C	GRCh37
NC_000002.10:g.71750329T>C	NCBI36
NG_008694.1:g.221069T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5729T>C MANE Select	NP_001124459.1:p.Phe1910Ser
ENST00000410020.8:c.5729T>C MANE Select	ENSP00000386881.3:p.Phe1910Ser
NM_003494.4:c.5612T>C MANE Plus Clinical	NP_003485.1:p.Phe1871Ser
ENST00000258104.8:c.5612T>C MANE Plus Clinical	ENSP00000258104.3:p.Phe1871Ser
NM_001130455.1:c.5615T>C	NP_001123927.1:p.Phe1872Ser
NM_001130455.2:c.5615T>C	NP_001123927.1:p.Phe1872Ser
NM_001130976.1:c.5570T>C	NP_001124448.1:p.Phe1857Ser
NM_001130976.2:c.5570T>C	NP_001124448.1:p.Phe1857Ser
NM_001130977.1:c.5633T>C	NP_001124449.1:p.Phe1878Ser
NM_001130977.2:c.5633T>C	NP_001124449.1:p.Phe1878Ser
NM_001130978.1:c.5675T>C	NP_001124450.1:p.Phe1892Ser
NM_001130978.2:c.5675T>C	NP_001124450.1:p.Phe1892Ser
NM_001130979.1:c.5705T>C	NP_001124451.1:p.Phe1902Ser
NM_001130979.2:c.5705T>C	NP_001124451.1:p.Phe1902Ser
NM_001130980.1:c.5663T>C	NP_001124452.1:p.Phe1888Ser
NM_001130980.2:c.5663T>C	NP_001124452.1:p.Phe1888Ser
NM_001130981.1:c.5726T>C	NP_001124453.1:p.Phe1909Ser
NM_001130981.2:c.5726T>C	NP_001124453.1:p.Phe1909Ser
NM_001130982.1:c.5708T>C	NP_001124454.1:p.Phe1903Ser
NM_001130982.2:c.5708T>C	NP_001124454.1:p.Phe1903Ser
NM_001130983.1:c.5678T>C	NP_001124455.1:p.Phe1893Ser
NM_001130983.2:c.5678T>C	NP_001124455.1:p.Phe1893Ser
NM_001130984.1:c.5636T>C	NP_001124456.1:p.Phe1879Ser
NM_001130984.2:c.5636T>C	NP_001124456.1:p.Phe1879Ser
NM_001130985.1:c.5666T>C	NP_001124457.1:p.Phe1889Ser
NM_001130985.2:c.5666T>C	NP_001124457.1:p.Phe1889Ser
NM_001130986.1:c.5573T>C	NP_001124458.1:p.Phe1858Ser
NM_001130986.2:c.5573T>C	NP_001124458.1:p.Phe1858Ser
NM_001130987.1:c.5729T>C	NP_001124459.1:p.Phe1910Ser
NM_003494.3:c.5612T>C	NP_003485.1:p.Phe1871Ser
ENST00000258104.7:c.5612T>C	ENSP00000258104.3:p.Phe1871Ser
ENST00000394120.6:c.5615T>C	ENSP00000377678.2:p.Phe1872Ser
ENST00000409366.5:c.5678T>C	ENSP00000386512.1:p.Phe1893Ser
ENST00000409582.7:c.5726T>C	ENSP00000386547.3:p.Phe1909Ser
ENST00000409651.5:c.5708T>C	ENSP00000386683.1:p.Phe1903Ser
ENST00000409744.5:c.5636T>C	ENSP00000386285.1:p.Phe1879Ser
ENST00000409762.5:c.5663T>C	ENSP00000387137.1:p.Phe1888Ser
ENST00000410020.7:c.5729T>C	ENSP00000386881.3:p.Phe1910Ser
ENST00000410041.1:c.5666T>C	ENSP00000386617.1:p.Phe1889Ser
ENST00000413539.6:c.5705T>C	ENSP00000407046.2:p.Phe1902Ser
ENST00000429174.6:c.5675T>C	ENSP00000398305.2:p.Phe1892Ser
ENST00000479049.6:n.2497T>C
ENST00000698057.1:c.3143T>C	ENSP00000513536.1:p.Phe1048Ser
ENST00000698058.1:c.2360T>C	ENSP00000513537.1:p.Phe787Ser
ENST00000698059.1:c.2468T>C	ENSP00000513538.1:p.Phe823Ser
XM_005264584.3:c.5771T>C	XP_005264641.1:p.Phe1924Ser
XM_005264584.4:c.5771T>C	XP_005264641.1:p.Phe1924Ser
XM_005264585.3:c.5768T>C	XP_005264642.1:p.Phe1923Ser
XM_005264585.5:c.5768T>C	XP_005264642.1:p.Phe1923Ser