Canonical Allele Identifier: CA49771552

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71674208G>A , CM000664.2:g.71674208G>A	GRCh38
NC_000002.11:g.71901338G>A , CM000664.1:g.71901338G>A	GRCh37
NC_000002.10:g.71754846G>A	NCBI36
NG_008694.1:g.225586G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5796G>A MANE Select	NP_001124459.1:p.Trp1932Ter
ENST00000410020.8:c.5796G>A MANE Select	ENSP00000386881.3:p.Trp1932Ter
NM_003494.4:c.5679G>A MANE Plus Clinical	NP_003485.1:p.Trp1893Ter
ENST00000258104.8:c.5679G>A MANE Plus Clinical	ENSP00000258104.3:p.Trp1893Ter
NM_001130455.1:c.5682G>A	NP_001123927.1:p.Trp1894Ter
NM_001130455.2:c.5682G>A	NP_001123927.1:p.Trp1894Ter
NM_001130976.1:c.5637G>A	NP_001124448.1:p.Trp1879Ter
NM_001130976.2:c.5637G>A	NP_001124448.1:p.Trp1879Ter
NM_001130977.1:c.5700G>A	NP_001124449.1:p.Trp1900Ter
NM_001130977.2:c.5700G>A	NP_001124449.1:p.Trp1900Ter
NM_001130978.1:c.5742G>A	NP_001124450.1:p.Trp1914Ter
NM_001130978.2:c.5742G>A	NP_001124450.1:p.Trp1914Ter
NM_001130979.1:c.5772G>A	NP_001124451.1:p.Trp1924Ter
NM_001130979.2:c.5772G>A	NP_001124451.1:p.Trp1924Ter
NM_001130980.1:c.5730G>A	NP_001124452.1:p.Trp1910Ter
NM_001130980.2:c.5730G>A	NP_001124452.1:p.Trp1910Ter
NM_001130981.1:c.5793G>A	NP_001124453.1:p.Trp1931Ter
NM_001130981.2:c.5793G>A	NP_001124453.1:p.Trp1931Ter
NM_001130982.1:c.5775G>A	NP_001124454.1:p.Trp1925Ter
NM_001130982.2:c.5775G>A	NP_001124454.1:p.Trp1925Ter
NM_001130983.1:c.5745G>A	NP_001124455.1:p.Trp1915Ter
NM_001130983.2:c.5745G>A	NP_001124455.1:p.Trp1915Ter
NM_001130984.1:c.5703G>A	NP_001124456.1:p.Trp1901Ter
NM_001130984.2:c.5703G>A	NP_001124456.1:p.Trp1901Ter
NM_001130985.1:c.5733G>A	NP_001124457.1:p.Trp1911Ter
NM_001130985.2:c.5733G>A	NP_001124457.1:p.Trp1911Ter
NM_001130986.1:c.5640G>A	NP_001124458.1:p.Trp1880Ter
NM_001130986.2:c.5640G>A	NP_001124458.1:p.Trp1880Ter
NM_001130987.1:c.5796G>A	NP_001124459.1:p.Trp1932Ter
NM_003494.3:c.5679G>A	NP_003485.1:p.Trp1893Ter
ENST00000258104.7:c.5679G>A	ENSP00000258104.3:p.Trp1893Ter
ENST00000394120.6:c.5682G>A	ENSP00000377678.2:p.Trp1894Ter
ENST00000409366.5:c.5745G>A	ENSP00000386512.1:p.Trp1915Ter
ENST00000409582.7:c.5793G>A	ENSP00000386547.3:p.Trp1931Ter
ENST00000409651.5:c.5775G>A	ENSP00000386683.1:p.Trp1925Ter
ENST00000409744.5:c.5703G>A	ENSP00000386285.1:p.Trp1901Ter
ENST00000409762.5:c.5730G>A	ENSP00000387137.1:p.Trp1910Ter
ENST00000410020.7:c.5796G>A	ENSP00000386881.3:p.Trp1932Ter
ENST00000410041.1:c.5733G>A	ENSP00000386617.1:p.Trp1911Ter
ENST00000413539.6:c.5772G>A	ENSP00000407046.2:p.Trp1924Ter
ENST00000429174.6:c.5742G>A	ENSP00000398305.2:p.Trp1914Ter
ENST00000479049.6:n.2564G>A
ENST00000698057.1:c.3210G>A	ENSP00000513536.1:p.Trp1070Ter
ENST00000698058.1:c.2427G>A	ENSP00000513537.1:p.Trp809Ter
ENST00000698059.1:c.2535G>A	ENSP00000513538.1:p.Trp845Ter
XM_005264584.3:c.5838G>A	XP_005264641.1:p.Trp1946Ter
XM_005264584.4:c.5838G>A	XP_005264641.1:p.Trp1946Ter
XM_005264585.3:c.5835G>A	XP_005264642.1:p.Trp1945Ter
XM_005264585.5:c.5835G>A	XP_005264642.1:p.Trp1945Ter