Canonical Allele Identifier: CA1707238

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71664350G>A , CM000664.2:g.71664350G>A	GRCh38
NC_000002.11:g.71891480G>A , CM000664.1:g.71891480G>A	GRCh37
NC_000002.10:g.71744988G>A	NCBI36
NG_008694.1:g.215728G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5086G>A MANE Select	NP_001124459.1:p.Glu1696Lys
ENST00000410020.8:c.5086G>A MANE Select	ENSP00000386881.3:p.Glu1696Lys
NM_003494.4:c.4969G>A MANE Plus Clinical	NP_003485.1:p.Glu1657Lys
ENST00000258104.8:c.4969G>A MANE Plus Clinical	ENSP00000258104.3:p.Glu1657Lys
NM_001130455.1:c.4972G>A	NP_001123927.1:p.Glu1658Lys
NM_001130455.2:c.4972G>A	NP_001123927.1:p.Glu1658Lys
NM_001130976.1:c.4927G>A	NP_001124448.1:p.Glu1643Lys
NM_001130976.2:c.4927G>A	NP_001124448.1:p.Glu1643Lys
NM_001130977.1:c.4990G>A	NP_001124449.1:p.Glu1664Lys
NM_001130977.2:c.4990G>A	NP_001124449.1:p.Glu1664Lys
NM_001130978.1:c.5032G>A	NP_001124450.1:p.Glu1678Lys
NM_001130978.2:c.5032G>A	NP_001124450.1:p.Glu1678Lys
NM_001130979.1:c.5062G>A	NP_001124451.1:p.Glu1688Lys
NM_001130979.2:c.5062G>A	NP_001124451.1:p.Glu1688Lys
NM_001130980.1:c.5020G>A	NP_001124452.1:p.Glu1674Lys
NM_001130980.2:c.5020G>A	NP_001124452.1:p.Glu1674Lys
NM_001130981.1:c.5083G>A	NP_001124453.1:p.Glu1695Lys
NM_001130981.2:c.5083G>A	NP_001124453.1:p.Glu1695Lys
NM_001130982.1:c.5065G>A	NP_001124454.1:p.Glu1689Lys
NM_001130982.2:c.5065G>A	NP_001124454.1:p.Glu1689Lys
NM_001130983.1:c.5035G>A	NP_001124455.1:p.Glu1679Lys
NM_001130983.2:c.5035G>A	NP_001124455.1:p.Glu1679Lys
NM_001130984.1:c.4993G>A	NP_001124456.1:p.Glu1665Lys
NM_001130984.2:c.4993G>A	NP_001124456.1:p.Glu1665Lys
NM_001130985.1:c.5023G>A	NP_001124457.1:p.Glu1675Lys
NM_001130985.2:c.5023G>A	NP_001124457.1:p.Glu1675Lys
NM_001130986.1:c.4930G>A	NP_001124458.1:p.Glu1644Lys
NM_001130986.2:c.4930G>A	NP_001124458.1:p.Glu1644Lys
NM_001130987.1:c.5086G>A	NP_001124459.1:p.Glu1696Lys
NM_003494.3:c.4969G>A	NP_003485.1:p.Glu1657Lys
ENST00000258104.7:c.4969G>A	ENSP00000258104.3:p.Glu1657Lys
ENST00000394120.6:c.4972G>A	ENSP00000377678.2:p.Glu1658Lys
ENST00000409366.5:c.5035G>A	ENSP00000386512.1:p.Glu1679Lys
ENST00000409582.7:c.5083G>A	ENSP00000386547.3:p.Glu1695Lys
ENST00000409651.5:c.5065G>A	ENSP00000386683.1:p.Glu1689Lys
ENST00000409744.5:c.4993G>A	ENSP00000386285.1:p.Glu1665Lys
ENST00000409762.5:c.5020G>A	ENSP00000387137.1:p.Glu1674Lys
ENST00000410020.7:c.5086G>A	ENSP00000386881.3:p.Glu1696Lys
ENST00000410041.1:c.5023G>A	ENSP00000386617.1:p.Glu1675Lys
ENST00000413539.6:c.5062G>A	ENSP00000407046.2:p.Glu1688Lys
ENST00000429174.6:c.5032G>A	ENSP00000398305.2:p.Glu1678Lys
ENST00000479049.6:n.1854G>A
ENST00000698057.1:c.2500G>A	ENSP00000513536.1:p.Glu834Lys
ENST00000698058.1:c.1717G>A	ENSP00000513537.1:p.Glu573Lys
ENST00000698059.1:c.1825G>A	ENSP00000513538.1:p.Glu609Lys
XM_005264584.3:c.5128G>A	XP_005264641.1:p.Glu1710Lys
XM_005264584.4:c.5128G>A	XP_005264641.1:p.Glu1710Lys
XM_005264585.3:c.5125G>A	XP_005264642.1:p.Glu1709Lys
XM_005264585.5:c.5125G>A	XP_005264642.1:p.Glu1709Lys
XR_001738969.1:n.5286G>A