Canonical Allele Identifier: CA347223597

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669646T>A , CM000664.2:g.71669646T>A	GRCh38
NC_000002.11:g.71896776T>A , CM000664.1:g.71896776T>A	GRCh37
NC_000002.10:g.71750284T>A	NCBI36
NG_008694.1:g.221024T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5684T>A MANE Select	NP_001124459.1:p.Val1895Glu
ENST00000410020.8:c.5684T>A MANE Select	ENSP00000386881.3:p.Val1895Glu
NM_003494.4:c.5567T>A MANE Plus Clinical	NP_003485.1:p.Val1856Glu
ENST00000258104.8:c.5567T>A MANE Plus Clinical	ENSP00000258104.3:p.Val1856Glu
NM_001130455.1:c.5570T>A	NP_001123927.1:p.Val1857Glu
NM_001130455.2:c.5570T>A	NP_001123927.1:p.Val1857Glu
NM_001130976.1:c.5525T>A	NP_001124448.1:p.Val1842Glu
NM_001130976.2:c.5525T>A	NP_001124448.1:p.Val1842Glu
NM_001130977.1:c.5588T>A	NP_001124449.1:p.Val1863Glu
NM_001130977.2:c.5588T>A	NP_001124449.1:p.Val1863Glu
NM_001130978.1:c.5630T>A	NP_001124450.1:p.Val1877Glu
NM_001130978.2:c.5630T>A	NP_001124450.1:p.Val1877Glu
NM_001130979.1:c.5660T>A	NP_001124451.1:p.Val1887Glu
NM_001130979.2:c.5660T>A	NP_001124451.1:p.Val1887Glu
NM_001130980.1:c.5618T>A	NP_001124452.1:p.Val1873Glu
NM_001130980.2:c.5618T>A	NP_001124452.1:p.Val1873Glu
NM_001130981.1:c.5681T>A	NP_001124453.1:p.Val1894Glu
NM_001130981.2:c.5681T>A	NP_001124453.1:p.Val1894Glu
NM_001130982.1:c.5663T>A	NP_001124454.1:p.Val1888Glu
NM_001130982.2:c.5663T>A	NP_001124454.1:p.Val1888Glu
NM_001130983.1:c.5633T>A	NP_001124455.1:p.Val1878Glu
NM_001130983.2:c.5633T>A	NP_001124455.1:p.Val1878Glu
NM_001130984.1:c.5591T>A	NP_001124456.1:p.Val1864Glu
NM_001130984.2:c.5591T>A	NP_001124456.1:p.Val1864Glu
NM_001130985.1:c.5621T>A	NP_001124457.1:p.Val1874Glu
NM_001130985.2:c.5621T>A	NP_001124457.1:p.Val1874Glu
NM_001130986.1:c.5528T>A	NP_001124458.1:p.Val1843Glu
NM_001130986.2:c.5528T>A	NP_001124458.1:p.Val1843Glu
NM_001130987.1:c.5684T>A	NP_001124459.1:p.Val1895Glu
NM_003494.3:c.5567T>A	NP_003485.1:p.Val1856Glu
ENST00000258104.7:c.5567T>A	ENSP00000258104.3:p.Val1856Glu
ENST00000394120.6:c.5570T>A	ENSP00000377678.2:p.Val1857Glu
ENST00000409366.5:c.5633T>A	ENSP00000386512.1:p.Val1878Glu
ENST00000409582.7:c.5681T>A	ENSP00000386547.3:p.Val1894Glu
ENST00000409651.5:c.5663T>A	ENSP00000386683.1:p.Val1888Glu
ENST00000409744.5:c.5591T>A	ENSP00000386285.1:p.Val1864Glu
ENST00000409762.5:c.5618T>A	ENSP00000387137.1:p.Val1873Glu
ENST00000410020.7:c.5684T>A	ENSP00000386881.3:p.Val1895Glu
ENST00000410041.1:c.5621T>A	ENSP00000386617.1:p.Val1874Glu
ENST00000413539.6:c.5660T>A	ENSP00000407046.2:p.Val1887Glu
ENST00000429174.6:c.5630T>A	ENSP00000398305.2:p.Val1877Glu
ENST00000479049.6:n.2452T>A
ENST00000698057.1:c.3098T>A	ENSP00000513536.1:p.Val1033Glu
ENST00000698058.1:c.2315T>A	ENSP00000513537.1:p.Val772Glu
ENST00000698059.1:c.2423T>A	ENSP00000513538.1:p.Val808Glu
XM_005264584.3:c.5726T>A	XP_005264641.1:p.Val1909Glu
XM_005264584.4:c.5726T>A	XP_005264641.1:p.Val1909Glu
XM_005264585.3:c.5723T>A	XP_005264642.1:p.Val1908Glu
XM_005264585.5:c.5723T>A	XP_005264642.1:p.Val1908Glu