Canonical Allele Identifier: CA1707292
Community Standard Title: NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71665197C>G , CM000664.2:g.71665197C>G GRCh38
NC_000002.11:g.71892327C>G , CM000664.1:g.71892327C>G GRCh37
NC_000002.10:g.71745835C>G NCBI36
NG_008694.1:g.216575C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5210C>G MANE Select NP_001124459.1:p.Pro1737Arg
ENST00000410020.8:c.5210C>G MANE Select ENSP00000386881.3:p.Pro1737Arg
NM_003494.4:c.5093C>G MANE Plus Clinical NP_003485.1:p.Pro1698Arg
ENST00000258104.8:c.5093C>G MANE Plus Clinical ENSP00000258104.3:p.Pro1698Arg
NM_001130455.1:c.5096C>G NP_001123927.1:p.Pro1699Arg
NM_001130455.2:c.5096C>G NP_001123927.1:p.Pro1699Arg
NM_001130976.1:c.5051C>G NP_001124448.1:p.Pro1684Arg
NM_001130976.2:c.5051C>G NP_001124448.1:p.Pro1684Arg
NM_001130977.1:c.5114C>G NP_001124449.1:p.Pro1705Arg
NM_001130977.2:c.5114C>G NP_001124449.1:p.Pro1705Arg
NM_001130978.1:c.5156C>G NP_001124450.1:p.Pro1719Arg
NM_001130978.2:c.5156C>G NP_001124450.1:p.Pro1719Arg
NM_001130979.1:c.5186C>G NP_001124451.1:p.Pro1729Arg
NM_001130979.2:c.5186C>G NP_001124451.1:p.Pro1729Arg
NM_001130980.1:c.5144C>G NP_001124452.1:p.Pro1715Arg
NM_001130980.2:c.5144C>G NP_001124452.1:p.Pro1715Arg
NM_001130981.1:c.5207C>G NP_001124453.1:p.Pro1736Arg
NM_001130981.2:c.5207C>G NP_001124453.1:p.Pro1736Arg
NM_001130982.1:c.5189C>G NP_001124454.1:p.Pro1730Arg
NM_001130982.2:c.5189C>G NP_001124454.1:p.Pro1730Arg
NM_001130983.1:c.5159C>G NP_001124455.1:p.Pro1720Arg
NM_001130983.2:c.5159C>G NP_001124455.1:p.Pro1720Arg
NM_001130984.1:c.5117C>G NP_001124456.1:p.Pro1706Arg
NM_001130984.2:c.5117C>G NP_001124456.1:p.Pro1706Arg
NM_001130985.1:c.5147C>G NP_001124457.1:p.Pro1716Arg
NM_001130985.2:c.5147C>G NP_001124457.1:p.Pro1716Arg
NM_001130986.1:c.5054C>G NP_001124458.1:p.Pro1685Arg
NM_001130986.2:c.5054C>G NP_001124458.1:p.Pro1685Arg
NM_001130987.1:c.5210C>G NP_001124459.1:p.Pro1737Arg
NM_003494.3:c.5093C>G NP_003485.1:p.Pro1698Arg
ENST00000258104.7:c.5093C>G ENSP00000258104.3:p.Pro1698Arg
ENST00000394120.6:c.5096C>G ENSP00000377678.2:p.Pro1699Arg
ENST00000409366.5:c.5159C>G ENSP00000386512.1:p.Pro1720Arg
ENST00000409582.7:c.5207C>G ENSP00000386547.3:p.Pro1736Arg
ENST00000409651.5:c.5189C>G ENSP00000386683.1:p.Pro1730Arg
ENST00000409744.5:c.5117C>G ENSP00000386285.1:p.Pro1706Arg
ENST00000409762.5:c.5144C>G ENSP00000387137.1:p.Pro1715Arg
ENST00000410020.7:c.5210C>G ENSP00000386881.3:p.Pro1737Arg
ENST00000410041.1:c.5147C>G ENSP00000386617.1:p.Pro1716Arg
ENST00000413539.6:c.5186C>G ENSP00000407046.2:p.Pro1729Arg
ENST00000429174.6:c.5156C>G ENSP00000398305.2:p.Pro1719Arg
ENST00000479049.6:n.1978C>G
ENST00000698057.1:c.2624C>G ENSP00000513536.1:p.Pro875Arg
ENST00000698058.1:c.1841C>G ENSP00000513537.1:p.Pro614Arg
ENST00000698059.1:c.1949C>G ENSP00000513538.1:p.Pro650Arg
XM_005264584.3:c.5252C>G XP_005264641.1:p.Pro1751Arg
XM_005264584.4:c.5252C>G XP_005264641.1:p.Pro1751Arg
XM_005264585.3:c.5249C>G XP_005264642.1:p.Pro1750Arg
XM_005264585.5:c.5249C>G XP_005264642.1:p.Pro1750Arg
XR_001738969.1:n.5608C>G