Canonical Allele Identifier: CA347226819

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71681062G>A , CM000664.2:g.71681062G>A	GRCh38
NC_000002.11:g.71908192G>A , CM000664.1:g.71908192G>A	GRCh37
NC_000002.10:g.71761700G>A	NCBI36
NG_008694.1:g.232440G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.6125G>A MANE Select	NP_001124459.1:p.Gly2042Asp
ENST00000410020.8:c.6125G>A MANE Select	ENSP00000386881.3:p.Gly2042Asp
NM_003494.4:c.6008G>A MANE Plus Clinical	NP_003485.1:p.Gly2003Asp
ENST00000258104.8:c.6008G>A MANE Plus Clinical	ENSP00000258104.3:p.Gly2003Asp
NM_001130455.1:c.6011G>A	NP_001123927.1:p.Gly2004Asp
NM_001130455.2:c.6011G>A	NP_001123927.1:p.Gly2004Asp
NM_001130976.1:c.5966G>A	NP_001124448.1:p.Gly1989Asp
NM_001130976.2:c.5966G>A	NP_001124448.1:p.Gly1989Asp
NM_001130977.1:c.6029G>A	NP_001124449.1:p.Gly2010Asp
NM_001130977.2:c.6029G>A	NP_001124449.1:p.Gly2010Asp
NM_001130978.1:c.6071G>A	NP_001124450.1:p.Gly2024Asp
NM_001130978.2:c.6071G>A	NP_001124450.1:p.Gly2024Asp
NM_001130979.1:c.6101G>A	NP_001124451.1:p.Gly2034Asp
NM_001130979.2:c.6101G>A	NP_001124451.1:p.Gly2034Asp
NM_001130980.1:c.6059G>A	NP_001124452.1:p.Gly2020Asp
NM_001130980.2:c.6059G>A	NP_001124452.1:p.Gly2020Asp
NM_001130981.1:c.6122G>A	NP_001124453.1:p.Gly2041Asp
NM_001130981.2:c.6122G>A	NP_001124453.1:p.Gly2041Asp
NM_001130982.1:c.6104G>A	NP_001124454.1:p.Gly2035Asp
NM_001130982.2:c.6104G>A	NP_001124454.1:p.Gly2035Asp
NM_001130983.1:c.6074G>A	NP_001124455.1:p.Gly2025Asp
NM_001130983.2:c.6074G>A	NP_001124455.1:p.Gly2025Asp
NM_001130984.1:c.6032G>A	NP_001124456.1:p.Gly2011Asp
NM_001130984.2:c.6032G>A	NP_001124456.1:p.Gly2011Asp
NM_001130985.1:c.6062G>A	NP_001124457.1:p.Gly2021Asp
NM_001130985.2:c.6062G>A	NP_001124457.1:p.Gly2021Asp
NM_001130986.1:c.5969G>A	NP_001124458.1:p.Gly1990Asp
NM_001130986.2:c.5969G>A	NP_001124458.1:p.Gly1990Asp
NM_001130987.1:c.6125G>A	NP_001124459.1:p.Gly2042Asp
NM_003494.3:c.6008G>A	NP_003485.1:p.Gly2003Asp
ENST00000258104.7:c.6008G>A	ENSP00000258104.3:p.Gly2003Asp
ENST00000394120.6:c.6011G>A	ENSP00000377678.2:p.Gly2004Asp
ENST00000409366.5:c.6074G>A	ENSP00000386512.1:p.Gly2025Asp
ENST00000409582.7:c.6122G>A	ENSP00000386547.3:p.Gly2041Asp
ENST00000409651.5:c.6104G>A	ENSP00000386683.1:p.Gly2035Asp
ENST00000409744.5:c.6032G>A	ENSP00000386285.1:p.Gly2011Asp
ENST00000409762.5:c.6059G>A	ENSP00000387137.1:p.Gly2020Asp
ENST00000410020.7:c.6125G>A	ENSP00000386881.3:p.Gly2042Asp
ENST00000410041.1:c.6062G>A	ENSP00000386617.1:p.Gly2021Asp
ENST00000413539.6:c.6101G>A	ENSP00000407046.2:p.Gly2034Asp
ENST00000429174.6:c.6071G>A	ENSP00000398305.2:p.Gly2024Asp
ENST00000479049.6:n.2893G>A
ENST00000698057.1:c.3539G>A	ENSP00000513536.1:p.Gly1180Asp
ENST00000698058.1:c.2756G>A	ENSP00000513537.1:p.Gly919Asp
ENST00000698059.1:c.2864G>A	ENSP00000513538.1:p.Gly955Asp
XM_005264584.3:c.6167G>A	XP_005264641.1:p.Gly2056Asp
XM_005264584.4:c.6167G>A	XP_005264641.1:p.Gly2056Asp
XM_005264585.3:c.6164G>A	XP_005264642.1:p.Gly2055Asp
XM_005264585.5:c.6164G>A	XP_005264642.1:p.Gly2055Asp