Canonical Allele Identifier: CA347220938

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71665180G>A , CM000664.2:g.71665180G>A	GRCh38
NC_000002.11:g.71892310G>A , CM000664.1:g.71892310G>A	GRCh37
NC_000002.10:g.71745818G>A	NCBI36
NG_008694.1:g.216558G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5193G>A MANE Select	NP_001124459.1:p.Trp1731Ter
ENST00000410020.8:c.5193G>A MANE Select	ENSP00000386881.3:p.Trp1731Ter
NM_003494.4:c.5076G>A MANE Plus Clinical	NP_003485.1:p.Trp1692Ter
ENST00000258104.8:c.5076G>A MANE Plus Clinical	ENSP00000258104.3:p.Trp1692Ter
NM_001130455.1:c.5079G>A	NP_001123927.1:p.Trp1693Ter
NM_001130455.2:c.5079G>A	NP_001123927.1:p.Trp1693Ter
NM_001130976.1:c.5034G>A	NP_001124448.1:p.Trp1678Ter
NM_001130976.2:c.5034G>A	NP_001124448.1:p.Trp1678Ter
NM_001130977.1:c.5097G>A	NP_001124449.1:p.Trp1699Ter
NM_001130977.2:c.5097G>A	NP_001124449.1:p.Trp1699Ter
NM_001130978.1:c.5139G>A	NP_001124450.1:p.Trp1713Ter
NM_001130978.2:c.5139G>A	NP_001124450.1:p.Trp1713Ter
NM_001130979.1:c.5169G>A	NP_001124451.1:p.Trp1723Ter
NM_001130979.2:c.5169G>A	NP_001124451.1:p.Trp1723Ter
NM_001130980.1:c.5127G>A	NP_001124452.1:p.Trp1709Ter
NM_001130980.2:c.5127G>A	NP_001124452.1:p.Trp1709Ter
NM_001130981.1:c.5190G>A	NP_001124453.1:p.Trp1730Ter
NM_001130981.2:c.5190G>A	NP_001124453.1:p.Trp1730Ter
NM_001130982.1:c.5172G>A	NP_001124454.1:p.Trp1724Ter
NM_001130982.2:c.5172G>A	NP_001124454.1:p.Trp1724Ter
NM_001130983.1:c.5142G>A	NP_001124455.1:p.Trp1714Ter
NM_001130983.2:c.5142G>A	NP_001124455.1:p.Trp1714Ter
NM_001130984.1:c.5100G>A	NP_001124456.1:p.Trp1700Ter
NM_001130984.2:c.5100G>A	NP_001124456.1:p.Trp1700Ter
NM_001130985.1:c.5130G>A	NP_001124457.1:p.Trp1710Ter
NM_001130985.2:c.5130G>A	NP_001124457.1:p.Trp1710Ter
NM_001130986.1:c.5037G>A	NP_001124458.1:p.Trp1679Ter
NM_001130986.2:c.5037G>A	NP_001124458.1:p.Trp1679Ter
NM_001130987.1:c.5193G>A	NP_001124459.1:p.Trp1731Ter
NM_003494.3:c.5076G>A	NP_003485.1:p.Trp1692Ter
ENST00000258104.7:c.5076G>A	ENSP00000258104.3:p.Trp1692Ter
ENST00000394120.6:c.5079G>A	ENSP00000377678.2:p.Trp1693Ter
ENST00000409366.5:c.5142G>A	ENSP00000386512.1:p.Trp1714Ter
ENST00000409582.7:c.5190G>A	ENSP00000386547.3:p.Trp1730Ter
ENST00000409651.5:c.5172G>A	ENSP00000386683.1:p.Trp1724Ter
ENST00000409744.5:c.5100G>A	ENSP00000386285.1:p.Trp1700Ter
ENST00000409762.5:c.5127G>A	ENSP00000387137.1:p.Trp1709Ter
ENST00000410020.7:c.5193G>A	ENSP00000386881.3:p.Trp1731Ter
ENST00000410041.1:c.5130G>A	ENSP00000386617.1:p.Trp1710Ter
ENST00000413539.6:c.5169G>A	ENSP00000407046.2:p.Trp1723Ter
ENST00000429174.6:c.5139G>A	ENSP00000398305.2:p.Trp1713Ter
ENST00000479049.6:n.1961G>A
ENST00000698057.1:c.2607G>A	ENSP00000513536.1:p.Trp869Ter
ENST00000698058.1:c.1824G>A	ENSP00000513537.1:p.Trp608Ter
ENST00000698059.1:c.1932G>A	ENSP00000513538.1:p.Trp644Ter
XM_005264584.3:c.5235G>A	XP_005264641.1:p.Trp1745Ter
XM_005264584.4:c.5235G>A	XP_005264641.1:p.Trp1745Ter
XM_005264585.3:c.5232G>A	XP_005264642.1:p.Trp1744Ter
XM_005264585.5:c.5232G>A	XP_005264642.1:p.Trp1744Ter
XR_001738969.1:n.5591G>A