Canonical Allele Identifier: CA347221413

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71667478G>C , CM000664.2:g.71667478G>C	GRCh38
NC_000002.11:g.71894608G>C , CM000664.1:g.71894608G>C	GRCh37
NC_000002.10:g.71748116G>C	NCBI36
NG_008694.1:g.218856G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5420G>C MANE Select	NP_001124459.1:p.Arg1807Pro
ENST00000410020.8:c.5420G>C MANE Select	ENSP00000386881.3:p.Arg1807Pro
NM_003494.4:c.5303G>C MANE Plus Clinical	NP_003485.1:p.Arg1768Pro
ENST00000258104.8:c.5303G>C MANE Plus Clinical	ENSP00000258104.3:p.Arg1768Pro
NM_001130455.1:c.5306G>C	NP_001123927.1:p.Arg1769Pro
NM_001130455.2:c.5306G>C	NP_001123927.1:p.Arg1769Pro
NM_001130976.1:c.5261G>C	NP_001124448.1:p.Arg1754Pro
NM_001130976.2:c.5261G>C	NP_001124448.1:p.Arg1754Pro
NM_001130977.1:c.5324G>C	NP_001124449.1:p.Arg1775Pro
NM_001130977.2:c.5324G>C	NP_001124449.1:p.Arg1775Pro
NM_001130978.1:c.5366G>C	NP_001124450.1:p.Arg1789Pro
NM_001130978.2:c.5366G>C	NP_001124450.1:p.Arg1789Pro
NM_001130979.1:c.5396G>C	NP_001124451.1:p.Arg1799Pro
NM_001130979.2:c.5396G>C	NP_001124451.1:p.Arg1799Pro
NM_001130980.1:c.5354G>C	NP_001124452.1:p.Arg1785Pro
NM_001130980.2:c.5354G>C	NP_001124452.1:p.Arg1785Pro
NM_001130981.1:c.5417G>C	NP_001124453.1:p.Arg1806Pro
NM_001130981.2:c.5417G>C	NP_001124453.1:p.Arg1806Pro
NM_001130982.1:c.5399G>C	NP_001124454.1:p.Arg1800Pro
NM_001130982.2:c.5399G>C	NP_001124454.1:p.Arg1800Pro
NM_001130983.1:c.5369G>C	NP_001124455.1:p.Arg1790Pro
NM_001130983.2:c.5369G>C	NP_001124455.1:p.Arg1790Pro
NM_001130984.1:c.5327G>C	NP_001124456.1:p.Arg1776Pro
NM_001130984.2:c.5327G>C	NP_001124456.1:p.Arg1776Pro
NM_001130985.1:c.5357G>C	NP_001124457.1:p.Arg1786Pro
NM_001130985.2:c.5357G>C	NP_001124457.1:p.Arg1786Pro
NM_001130986.1:c.5264G>C	NP_001124458.1:p.Arg1755Pro
NM_001130986.2:c.5264G>C	NP_001124458.1:p.Arg1755Pro
NM_001130987.1:c.5420G>C	NP_001124459.1:p.Arg1807Pro
NM_003494.3:c.5303G>C	NP_003485.1:p.Arg1768Pro
ENST00000258104.7:c.5303G>C	ENSP00000258104.3:p.Arg1768Pro
ENST00000394120.6:c.5306G>C	ENSP00000377678.2:p.Arg1769Pro
ENST00000409366.5:c.5369G>C	ENSP00000386512.1:p.Arg1790Pro
ENST00000409582.7:c.5417G>C	ENSP00000386547.3:p.Arg1806Pro
ENST00000409651.5:c.5399G>C	ENSP00000386683.1:p.Arg1800Pro
ENST00000409744.5:c.5327G>C	ENSP00000386285.1:p.Arg1776Pro
ENST00000409762.5:c.5354G>C	ENSP00000387137.1:p.Arg1785Pro
ENST00000410020.7:c.5420G>C	ENSP00000386881.3:p.Arg1807Pro
ENST00000410041.1:c.5357G>C	ENSP00000386617.1:p.Arg1786Pro
ENST00000413539.6:c.5396G>C	ENSP00000407046.2:p.Arg1799Pro
ENST00000429174.6:c.5366G>C	ENSP00000398305.2:p.Arg1789Pro
ENST00000479049.6:n.2188G>C
ENST00000698057.1:c.2834G>C	ENSP00000513536.1:p.Arg945Pro
ENST00000698058.1:c.2051G>C	ENSP00000513537.1:p.Arg684Pro
ENST00000698059.1:c.2159G>C	ENSP00000513538.1:p.Arg720Pro
XM_005264584.3:c.5462G>C	XP_005264641.1:p.Arg1821Pro
XM_005264584.4:c.5462G>C	XP_005264641.1:p.Arg1821Pro
XM_005264585.3:c.5459G>C	XP_005264642.1:p.Arg1820Pro
XM_005264585.5:c.5459G>C	XP_005264642.1:p.Arg1820Pro