Canonical Allele Identifier: CA49767324

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71665254G>A , CM000664.2:g.71665254G>A	GRCh38
NC_000002.11:g.71892384G>A , CM000664.1:g.71892384G>A	GRCh37
NC_000002.10:g.71745892G>A	NCBI36
NG_008694.1:g.216632G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5267G>A MANE Select	NP_001124459.1:p.Arg1756Gln
ENST00000410020.8:c.5267G>A MANE Select	ENSP00000386881.3:p.Arg1756Gln
NM_003494.4:c.5150G>A MANE Plus Clinical	NP_003485.1:p.Arg1717Gln
ENST00000258104.8:c.5150G>A MANE Plus Clinical	ENSP00000258104.3:p.Arg1717Gln
NM_001130455.1:c.5153G>A	NP_001123927.1:p.Arg1718Gln
NM_001130455.2:c.5153G>A	NP_001123927.1:p.Arg1718Gln
NM_001130976.1:c.5108G>A	NP_001124448.1:p.Arg1703Gln
NM_001130976.2:c.5108G>A	NP_001124448.1:p.Arg1703Gln
NM_001130977.1:c.5171G>A	NP_001124449.1:p.Arg1724Gln
NM_001130977.2:c.5171G>A	NP_001124449.1:p.Arg1724Gln
NM_001130978.1:c.5213G>A	NP_001124450.1:p.Arg1738Gln
NM_001130978.2:c.5213G>A	NP_001124450.1:p.Arg1738Gln
NM_001130979.1:c.5243G>A	NP_001124451.1:p.Arg1748Gln
NM_001130979.2:c.5243G>A	NP_001124451.1:p.Arg1748Gln
NM_001130980.1:c.5201G>A	NP_001124452.1:p.Arg1734Gln
NM_001130980.2:c.5201G>A	NP_001124452.1:p.Arg1734Gln
NM_001130981.1:c.5264G>A	NP_001124453.1:p.Arg1755Gln
NM_001130981.2:c.5264G>A	NP_001124453.1:p.Arg1755Gln
NM_001130982.1:c.5246G>A	NP_001124454.1:p.Arg1749Gln
NM_001130982.2:c.5246G>A	NP_001124454.1:p.Arg1749Gln
NM_001130983.1:c.5216G>A	NP_001124455.1:p.Arg1739Gln
NM_001130983.2:c.5216G>A	NP_001124455.1:p.Arg1739Gln
NM_001130984.1:c.5174G>A	NP_001124456.1:p.Arg1725Gln
NM_001130984.2:c.5174G>A	NP_001124456.1:p.Arg1725Gln
NM_001130985.1:c.5204G>A	NP_001124457.1:p.Arg1735Gln
NM_001130985.2:c.5204G>A	NP_001124457.1:p.Arg1735Gln
NM_001130986.1:c.5111G>A	NP_001124458.1:p.Arg1704Gln
NM_001130986.2:c.5111G>A	NP_001124458.1:p.Arg1704Gln
NM_001130987.1:c.5267G>A	NP_001124459.1:p.Arg1756Gln
NM_003494.3:c.5150G>A	NP_003485.1:p.Arg1717Gln
ENST00000258104.7:c.5150G>A	ENSP00000258104.3:p.Arg1717Gln
ENST00000394120.6:c.5153G>A	ENSP00000377678.2:p.Arg1718Gln
ENST00000409366.5:c.5216G>A	ENSP00000386512.1:p.Arg1739Gln
ENST00000409582.7:c.5264G>A	ENSP00000386547.3:p.Arg1755Gln
ENST00000409651.5:c.5246G>A	ENSP00000386683.1:p.Arg1749Gln
ENST00000409744.5:c.5174G>A	ENSP00000386285.1:p.Arg1725Gln
ENST00000409762.5:c.5201G>A	ENSP00000387137.1:p.Arg1734Gln
ENST00000410020.7:c.5267G>A	ENSP00000386881.3:p.Arg1756Gln
ENST00000410041.1:c.5204G>A	ENSP00000386617.1:p.Arg1735Gln
ENST00000413539.6:c.5243G>A	ENSP00000407046.2:p.Arg1748Gln
ENST00000429174.6:c.5213G>A	ENSP00000398305.2:p.Arg1738Gln
ENST00000479049.6:n.2035G>A
ENST00000698057.1:c.2681G>A	ENSP00000513536.1:p.Arg894Gln
ENST00000698058.1:c.1898G>A	ENSP00000513537.1:p.Arg633Gln
ENST00000698059.1:c.2006G>A	ENSP00000513538.1:p.Arg669Gln
XM_005264584.3:c.5309G>A	XP_005264641.1:p.Arg1770Gln
XM_005264584.4:c.5309G>A	XP_005264641.1:p.Arg1770Gln
XM_005264585.3:c.5306G>A	XP_005264642.1:p.Arg1769Gln
XM_005264585.5:c.5306G>A	XP_005264642.1:p.Arg1769Gln
XR_001738969.1:n.5665G>A