Canonical Allele Identifier: CA347220943
Community Standard Title: NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71665182G>C , CM000664.2:g.71665182G>C GRCh38
NC_000002.11:g.71892312G>C , CM000664.1:g.71892312G>C GRCh37
NC_000002.10:g.71745820G>C NCBI36
NG_008694.1:g.216560G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5195G>C MANE Select NP_001124459.1:p.Arg1732Pro
ENST00000410020.8:c.5195G>C MANE Select ENSP00000386881.3:p.Arg1732Pro
NM_003494.4:c.5078G>C MANE Plus Clinical NP_003485.1:p.Arg1693Pro
ENST00000258104.8:c.5078G>C MANE Plus Clinical ENSP00000258104.3:p.Arg1693Pro
NM_001130455.1:c.5081G>C NP_001123927.1:p.Arg1694Pro
NM_001130455.2:c.5081G>C NP_001123927.1:p.Arg1694Pro
NM_001130976.1:c.5036G>C NP_001124448.1:p.Arg1679Pro
NM_001130976.2:c.5036G>C NP_001124448.1:p.Arg1679Pro
NM_001130977.1:c.5099G>C NP_001124449.1:p.Arg1700Pro
NM_001130977.2:c.5099G>C NP_001124449.1:p.Arg1700Pro
NM_001130978.1:c.5141G>C NP_001124450.1:p.Arg1714Pro
NM_001130978.2:c.5141G>C NP_001124450.1:p.Arg1714Pro
NM_001130979.1:c.5171G>C NP_001124451.1:p.Arg1724Pro
NM_001130979.2:c.5171G>C NP_001124451.1:p.Arg1724Pro
NM_001130980.1:c.5129G>C NP_001124452.1:p.Arg1710Pro
NM_001130980.2:c.5129G>C NP_001124452.1:p.Arg1710Pro
NM_001130981.1:c.5192G>C NP_001124453.1:p.Arg1731Pro
NM_001130981.2:c.5192G>C NP_001124453.1:p.Arg1731Pro
NM_001130982.1:c.5174G>C NP_001124454.1:p.Arg1725Pro
NM_001130982.2:c.5174G>C NP_001124454.1:p.Arg1725Pro
NM_001130983.1:c.5144G>C NP_001124455.1:p.Arg1715Pro
NM_001130983.2:c.5144G>C NP_001124455.1:p.Arg1715Pro
NM_001130984.1:c.5102G>C NP_001124456.1:p.Arg1701Pro
NM_001130984.2:c.5102G>C NP_001124456.1:p.Arg1701Pro
NM_001130985.1:c.5132G>C NP_001124457.1:p.Arg1711Pro
NM_001130985.2:c.5132G>C NP_001124457.1:p.Arg1711Pro
NM_001130986.1:c.5039G>C NP_001124458.1:p.Arg1680Pro
NM_001130986.2:c.5039G>C NP_001124458.1:p.Arg1680Pro
NM_001130987.1:c.5195G>C NP_001124459.1:p.Arg1732Pro
NM_003494.3:c.5078G>C NP_003485.1:p.Arg1693Pro
ENST00000258104.7:c.5078G>C ENSP00000258104.3:p.Arg1693Pro
ENST00000394120.6:c.5081G>C ENSP00000377678.2:p.Arg1694Pro
ENST00000409366.5:c.5144G>C ENSP00000386512.1:p.Arg1715Pro
ENST00000409582.7:c.5192G>C ENSP00000386547.3:p.Arg1731Pro
ENST00000409651.5:c.5174G>C ENSP00000386683.1:p.Arg1725Pro
ENST00000409744.5:c.5102G>C ENSP00000386285.1:p.Arg1701Pro
ENST00000409762.5:c.5129G>C ENSP00000387137.1:p.Arg1710Pro
ENST00000410020.7:c.5195G>C ENSP00000386881.3:p.Arg1732Pro
ENST00000410041.1:c.5132G>C ENSP00000386617.1:p.Arg1711Pro
ENST00000413539.6:c.5171G>C ENSP00000407046.2:p.Arg1724Pro
ENST00000429174.6:c.5141G>C ENSP00000398305.2:p.Arg1714Pro
ENST00000479049.6:n.1963G>C
ENST00000698057.1:c.2609G>C ENSP00000513536.1:p.Arg870Pro
ENST00000698058.1:c.1826G>C ENSP00000513537.1:p.Arg609Pro
ENST00000698059.1:c.1934G>C ENSP00000513538.1:p.Arg645Pro
XM_005264584.3:c.5237G>C XP_005264641.1:p.Arg1746Pro
XM_005264584.4:c.5237G>C XP_005264641.1:p.Arg1746Pro
XM_005264585.3:c.5234G>C XP_005264642.1:p.Arg1745Pro
XM_005264585.5:c.5234G>C XP_005264642.1:p.Arg1745Pro
XR_001738969.1:n.5593G>C