Canonical Allele Identifier: CA347226332

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679115C>A , CM000664.2:g.71679115C>A	GRCh38
NC_000002.11:g.71906245C>A , CM000664.1:g.71906245C>A	GRCh37
NC_000002.10:g.71759753C>A	NCBI36
NG_008694.1:g.230493C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5943C>A MANE Select	NP_001124459.1:p.Cys1981Ter
ENST00000410020.8:c.5943C>A MANE Select	ENSP00000386881.3:p.Cys1981Ter
NM_003494.4:c.5826C>A MANE Plus Clinical	NP_003485.1:p.Cys1942Ter
ENST00000258104.8:c.5826C>A MANE Plus Clinical	ENSP00000258104.3:p.Cys1942Ter
NM_001130455.1:c.5829C>A	NP_001123927.1:p.Cys1943Ter
NM_001130455.2:c.5829C>A	NP_001123927.1:p.Cys1943Ter
NM_001130976.1:c.5784C>A	NP_001124448.1:p.Cys1928Ter
NM_001130976.2:c.5784C>A	NP_001124448.1:p.Cys1928Ter
NM_001130977.1:c.5847C>A	NP_001124449.1:p.Cys1949Ter
NM_001130977.2:c.5847C>A	NP_001124449.1:p.Cys1949Ter
NM_001130978.1:c.5889C>A	NP_001124450.1:p.Cys1963Ter
NM_001130978.2:c.5889C>A	NP_001124450.1:p.Cys1963Ter
NM_001130979.1:c.5919C>A	NP_001124451.1:p.Cys1973Ter
NM_001130979.2:c.5919C>A	NP_001124451.1:p.Cys1973Ter
NM_001130980.1:c.5877C>A	NP_001124452.1:p.Cys1959Ter
NM_001130980.2:c.5877C>A	NP_001124452.1:p.Cys1959Ter
NM_001130981.1:c.5940C>A	NP_001124453.1:p.Cys1980Ter
NM_001130981.2:c.5940C>A	NP_001124453.1:p.Cys1980Ter
NM_001130982.1:c.5922C>A	NP_001124454.1:p.Cys1974Ter
NM_001130982.2:c.5922C>A	NP_001124454.1:p.Cys1974Ter
NM_001130983.1:c.5892C>A	NP_001124455.1:p.Cys1964Ter
NM_001130983.2:c.5892C>A	NP_001124455.1:p.Cys1964Ter
NM_001130984.1:c.5850C>A	NP_001124456.1:p.Cys1950Ter
NM_001130984.2:c.5850C>A	NP_001124456.1:p.Cys1950Ter
NM_001130985.1:c.5880C>A	NP_001124457.1:p.Cys1960Ter
NM_001130985.2:c.5880C>A	NP_001124457.1:p.Cys1960Ter
NM_001130986.1:c.5787C>A	NP_001124458.1:p.Cys1929Ter
NM_001130986.2:c.5787C>A	NP_001124458.1:p.Cys1929Ter
NM_001130987.1:c.5943C>A	NP_001124459.1:p.Cys1981Ter
NM_003494.3:c.5826C>A	NP_003485.1:p.Cys1942Ter
ENST00000258104.7:c.5826C>A	ENSP00000258104.3:p.Cys1942Ter
ENST00000394120.6:c.5829C>A	ENSP00000377678.2:p.Cys1943Ter
ENST00000409366.5:c.5892C>A	ENSP00000386512.1:p.Cys1964Ter
ENST00000409582.7:c.5940C>A	ENSP00000386547.3:p.Cys1980Ter
ENST00000409651.5:c.5922C>A	ENSP00000386683.1:p.Cys1974Ter
ENST00000409744.5:c.5850C>A	ENSP00000386285.1:p.Cys1950Ter
ENST00000409762.5:c.5877C>A	ENSP00000387137.1:p.Cys1959Ter
ENST00000410020.7:c.5943C>A	ENSP00000386881.3:p.Cys1981Ter
ENST00000410041.1:c.5880C>A	ENSP00000386617.1:p.Cys1960Ter
ENST00000413539.6:c.5919C>A	ENSP00000407046.2:p.Cys1973Ter
ENST00000429174.6:c.5889C>A	ENSP00000398305.2:p.Cys1963Ter
ENST00000479049.6:n.2711C>A
ENST00000698057.1:c.3357C>A	ENSP00000513536.1:p.Cys1119Ter
ENST00000698058.1:c.2574C>A	ENSP00000513537.1:p.Cys858Ter
ENST00000698059.1:c.2682C>A	ENSP00000513538.1:p.Cys894Ter
XM_005264584.3:c.5985C>A	XP_005264641.1:p.Cys1995Ter
XM_005264584.4:c.5985C>A	XP_005264641.1:p.Cys1995Ter
XM_005264585.3:c.5982C>A	XP_005264642.1:p.Cys1994Ter
XM_005264585.5:c.5982C>A	XP_005264642.1:p.Cys1994Ter