Canonical Allele Identifier: CA1707668

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71682669G>A , CM000664.2:g.71682669G>A	GRCh38
NC_000002.11:g.71909799G>A , CM000664.1:g.71909799G>A	GRCh37
NC_000002.10:g.71763307G>A	NCBI36
NG_008694.1:g.234047G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.6313G>A MANE Select	NP_001124459.1:p.Ala2105Thr
ENST00000410020.8:c.6313G>A MANE Select	ENSP00000386881.3:p.Ala2105Thr
NM_003494.4:c.6196G>A MANE Plus Clinical	NP_003485.1:p.Ala2066Thr
ENST00000258104.8:c.6196G>A MANE Plus Clinical	ENSP00000258104.3:p.Ala2066Thr
NM_001130455.1:c.6199G>A	NP_001123927.1:p.Ala2067Thr
NM_001130455.2:c.6199G>A	NP_001123927.1:p.Ala2067Thr
NM_001130976.1:c.6154G>A	NP_001124448.1:p.Ala2052Thr
NM_001130976.2:c.6154G>A	NP_001124448.1:p.Ala2052Thr
NM_001130977.1:c.6217G>A	NP_001124449.1:p.Ala2073Thr
NM_001130977.2:c.6217G>A	NP_001124449.1:p.Ala2073Thr
NM_001130978.1:c.6259G>A	NP_001124450.1:p.Ala2087Thr
NM_001130978.2:c.6259G>A	NP_001124450.1:p.Ala2087Thr
NM_001130979.1:c.6289G>A	NP_001124451.1:p.Ala2097Thr
NM_001130979.2:c.6289G>A	NP_001124451.1:p.Ala2097Thr
NM_001130980.1:c.6247G>A	NP_001124452.1:p.Ala2083Thr
NM_001130980.2:c.6247G>A	NP_001124452.1:p.Ala2083Thr
NM_001130981.1:c.6310G>A	NP_001124453.1:p.Ala2104Thr
NM_001130981.2:c.6310G>A	NP_001124453.1:p.Ala2104Thr
NM_001130982.1:c.6292G>A	NP_001124454.1:p.Ala2098Thr
NM_001130982.2:c.6292G>A	NP_001124454.1:p.Ala2098Thr
NM_001130983.1:c.6262G>A	NP_001124455.1:p.Ala2088Thr
NM_001130983.2:c.6262G>A	NP_001124455.1:p.Ala2088Thr
NM_001130984.1:c.6220G>A	NP_001124456.1:p.Ala2074Thr
NM_001130984.2:c.6220G>A	NP_001124456.1:p.Ala2074Thr
NM_001130985.1:c.6250G>A	NP_001124457.1:p.Ala2084Thr
NM_001130985.2:c.6250G>A	NP_001124457.1:p.Ala2084Thr
NM_001130986.1:c.6157G>A	NP_001124458.1:p.Ala2053Thr
NM_001130986.2:c.6157G>A	NP_001124458.1:p.Ala2053Thr
NM_001130987.1:c.6313G>A	NP_001124459.1:p.Ala2105Thr
NM_003494.3:c.6196G>A	NP_003485.1:p.Ala2066Thr
ENST00000258104.7:c.6196G>A	ENSP00000258104.3:p.Ala2066Thr
ENST00000394120.6:c.6199G>A	ENSP00000377678.2:p.Ala2067Thr
ENST00000409366.5:c.6262G>A	ENSP00000386512.1:p.Ala2088Thr
ENST00000409582.7:c.6310G>A	ENSP00000386547.3:p.Ala2104Thr
ENST00000409651.5:c.6292G>A	ENSP00000386683.1:p.Ala2098Thr
ENST00000409744.5:c.6220G>A	ENSP00000386285.1:p.Ala2074Thr
ENST00000409762.5:c.6247G>A	ENSP00000387137.1:p.Ala2083Thr
ENST00000410020.7:c.6313G>A	ENSP00000386881.3:p.Ala2105Thr
ENST00000410041.1:c.6250G>A	ENSP00000386617.1:p.Ala2084Thr
ENST00000413539.6:c.6289G>A	ENSP00000407046.2:p.Ala2097Thr
ENST00000429174.6:c.6259G>A	ENSP00000398305.2:p.Ala2087Thr
ENST00000479049.6:n.3081G>A
ENST00000698057.1:c.3727G>A	ENSP00000513536.1:p.Ala1243Thr
ENST00000698058.1:c.2944G>A	ENSP00000513537.1:p.Ala982Thr
ENST00000698059.1:c.3052G>A	ENSP00000513538.1:p.Ala1018Thr
XM_005264584.3:c.6355G>A	XP_005264641.1:p.Ala2119Thr
XM_005264584.4:c.6355G>A	XP_005264641.1:p.Ala2119Thr
XM_005264585.3:c.6352G>A	XP_005264642.1:p.Ala2118Thr
XM_005264585.5:c.6352G>A	XP_005264642.1:p.Ala2118Thr