Canonical Allele Identifier: CA347225292

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71674261G>A , CM000664.2:g.71674261G>A	GRCh38
NC_000002.11:g.71901391G>A , CM000664.1:g.71901391G>A	GRCh37
NC_000002.10:g.71754899G>A	NCBI36
NG_008694.1:g.225639G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5849G>A MANE Select	NP_001124459.1:p.Trp1950Ter
ENST00000410020.8:c.5849G>A MANE Select	ENSP00000386881.3:p.Trp1950Ter
NM_003494.4:c.5732G>A MANE Plus Clinical	NP_003485.1:p.Trp1911Ter
ENST00000258104.8:c.5732G>A MANE Plus Clinical	ENSP00000258104.3:p.Trp1911Ter
NM_001130455.1:c.5735G>A	NP_001123927.1:p.Trp1912Ter
NM_001130455.2:c.5735G>A	NP_001123927.1:p.Trp1912Ter
NM_001130976.1:c.5690G>A	NP_001124448.1:p.Trp1897Ter
NM_001130976.2:c.5690G>A	NP_001124448.1:p.Trp1897Ter
NM_001130977.1:c.5753G>A	NP_001124449.1:p.Trp1918Ter
NM_001130977.2:c.5753G>A	NP_001124449.1:p.Trp1918Ter
NM_001130978.1:c.5795G>A	NP_001124450.1:p.Trp1932Ter
NM_001130978.2:c.5795G>A	NP_001124450.1:p.Trp1932Ter
NM_001130979.1:c.5825G>A	NP_001124451.1:p.Trp1942Ter
NM_001130979.2:c.5825G>A	NP_001124451.1:p.Trp1942Ter
NM_001130980.1:c.5783G>A	NP_001124452.1:p.Trp1928Ter
NM_001130980.2:c.5783G>A	NP_001124452.1:p.Trp1928Ter
NM_001130981.1:c.5846G>A	NP_001124453.1:p.Trp1949Ter
NM_001130981.2:c.5846G>A	NP_001124453.1:p.Trp1949Ter
NM_001130982.1:c.5828G>A	NP_001124454.1:p.Trp1943Ter
NM_001130982.2:c.5828G>A	NP_001124454.1:p.Trp1943Ter
NM_001130983.1:c.5798G>A	NP_001124455.1:p.Trp1933Ter
NM_001130983.2:c.5798G>A	NP_001124455.1:p.Trp1933Ter
NM_001130984.1:c.5756G>A	NP_001124456.1:p.Trp1919Ter
NM_001130984.2:c.5756G>A	NP_001124456.1:p.Trp1919Ter
NM_001130985.1:c.5786G>A	NP_001124457.1:p.Trp1929Ter
NM_001130985.2:c.5786G>A	NP_001124457.1:p.Trp1929Ter
NM_001130986.1:c.5693G>A	NP_001124458.1:p.Trp1898Ter
NM_001130986.2:c.5693G>A	NP_001124458.1:p.Trp1898Ter
NM_001130987.1:c.5849G>A	NP_001124459.1:p.Trp1950Ter
NM_003494.3:c.5732G>A	NP_003485.1:p.Trp1911Ter
ENST00000258104.7:c.5732G>A	ENSP00000258104.3:p.Trp1911Ter
ENST00000394120.6:c.5735G>A	ENSP00000377678.2:p.Trp1912Ter
ENST00000409366.5:c.5798G>A	ENSP00000386512.1:p.Trp1933Ter
ENST00000409582.7:c.5846G>A	ENSP00000386547.3:p.Trp1949Ter
ENST00000409651.5:c.5828G>A	ENSP00000386683.1:p.Trp1943Ter
ENST00000409744.5:c.5756G>A	ENSP00000386285.1:p.Trp1919Ter
ENST00000409762.5:c.5783G>A	ENSP00000387137.1:p.Trp1928Ter
ENST00000410020.7:c.5849G>A	ENSP00000386881.3:p.Trp1950Ter
ENST00000410041.1:c.5786G>A	ENSP00000386617.1:p.Trp1929Ter
ENST00000413539.6:c.5825G>A	ENSP00000407046.2:p.Trp1942Ter
ENST00000429174.6:c.5795G>A	ENSP00000398305.2:p.Trp1932Ter
ENST00000479049.6:n.2617G>A
ENST00000698057.1:c.3263G>A	ENSP00000513536.1:p.Trp1088Ter
ENST00000698058.1:c.2480G>A	ENSP00000513537.1:p.Trp827Ter
ENST00000698059.1:c.2588G>A	ENSP00000513538.1:p.Trp863Ter
XM_005264584.3:c.5891G>A	XP_005264641.1:p.Trp1964Ter
XM_005264584.4:c.5891G>A	XP_005264641.1:p.Trp1964Ter
XM_005264585.3:c.5888G>A	XP_005264642.1:p.Trp1963Ter
XM_005264585.5:c.5888G>A	XP_005264642.1:p.Trp1963Ter