Canonical Allele Identifier: CA347225328
Community Standard Title: NM_001130987.2(DYSF):c.5858A>G (p.Asp1953Gly)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71674270A>G , CM000664.2:g.71674270A>G GRCh38
NC_000002.11:g.71901400A>G , CM000664.1:g.71901400A>G GRCh37
NC_000002.10:g.71754908A>G NCBI36
NG_008694.1:g.225648A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5858A>G MANE Select NP_001124459.1:p.Asp1953Gly
ENST00000410020.8:c.5858A>G MANE Select ENSP00000386881.3:p.Asp1953Gly
NM_003494.4:c.5741A>G MANE Plus Clinical NP_003485.1:p.Asp1914Gly
ENST00000258104.8:c.5741A>G MANE Plus Clinical ENSP00000258104.3:p.Asp1914Gly
NM_001130455.1:c.5744A>G NP_001123927.1:p.Asp1915Gly
NM_001130455.2:c.5744A>G NP_001123927.1:p.Asp1915Gly
NM_001130976.1:c.5699A>G NP_001124448.1:p.Asp1900Gly
NM_001130976.2:c.5699A>G NP_001124448.1:p.Asp1900Gly
NM_001130977.1:c.5762A>G NP_001124449.1:p.Asp1921Gly
NM_001130977.2:c.5762A>G NP_001124449.1:p.Asp1921Gly
NM_001130978.1:c.5804A>G NP_001124450.1:p.Asp1935Gly
NM_001130978.2:c.5804A>G NP_001124450.1:p.Asp1935Gly
NM_001130979.1:c.5834A>G NP_001124451.1:p.Asp1945Gly
NM_001130979.2:c.5834A>G NP_001124451.1:p.Asp1945Gly
NM_001130980.1:c.5792A>G NP_001124452.1:p.Asp1931Gly
NM_001130980.2:c.5792A>G NP_001124452.1:p.Asp1931Gly
NM_001130981.1:c.5855A>G NP_001124453.1:p.Asp1952Gly
NM_001130981.2:c.5855A>G NP_001124453.1:p.Asp1952Gly
NM_001130982.1:c.5837A>G NP_001124454.1:p.Asp1946Gly
NM_001130982.2:c.5837A>G NP_001124454.1:p.Asp1946Gly
NM_001130983.1:c.5807A>G NP_001124455.1:p.Asp1936Gly
NM_001130983.2:c.5807A>G NP_001124455.1:p.Asp1936Gly
NM_001130984.1:c.5765A>G NP_001124456.1:p.Asp1922Gly
NM_001130984.2:c.5765A>G NP_001124456.1:p.Asp1922Gly
NM_001130985.1:c.5795A>G NP_001124457.1:p.Asp1932Gly
NM_001130985.2:c.5795A>G NP_001124457.1:p.Asp1932Gly
NM_001130986.1:c.5702A>G NP_001124458.1:p.Asp1901Gly
NM_001130986.2:c.5702A>G NP_001124458.1:p.Asp1901Gly
NM_001130987.1:c.5858A>G NP_001124459.1:p.Asp1953Gly
NM_003494.3:c.5741A>G NP_003485.1:p.Asp1914Gly
ENST00000258104.7:c.5741A>G ENSP00000258104.3:p.Asp1914Gly
ENST00000394120.6:c.5744A>G ENSP00000377678.2:p.Asp1915Gly
ENST00000409366.5:c.5807A>G ENSP00000386512.1:p.Asp1936Gly
ENST00000409582.7:c.5855A>G ENSP00000386547.3:p.Asp1952Gly
ENST00000409651.5:c.5837A>G ENSP00000386683.1:p.Asp1946Gly
ENST00000409744.5:c.5765A>G ENSP00000386285.1:p.Asp1922Gly
ENST00000409762.5:c.5792A>G ENSP00000387137.1:p.Asp1931Gly
ENST00000410020.7:c.5858A>G ENSP00000386881.3:p.Asp1953Gly
ENST00000410041.1:c.5795A>G ENSP00000386617.1:p.Asp1932Gly
ENST00000413539.6:c.5834A>G ENSP00000407046.2:p.Asp1945Gly
ENST00000429174.6:c.5804A>G ENSP00000398305.2:p.Asp1935Gly
ENST00000479049.6:n.2626A>G
ENST00000698057.1:c.3272A>G ENSP00000513536.1:p.Asp1091Gly
ENST00000698058.1:c.2489A>G ENSP00000513537.1:p.Asp830Gly
ENST00000698059.1:c.2597A>G ENSP00000513538.1:p.Asp866Gly
XM_005264584.3:c.5900A>G XP_005264641.1:p.Asp1967Gly
XM_005264584.4:c.5900A>G XP_005264641.1:p.Asp1967Gly
XM_005264585.3:c.5897A>G XP_005264642.1:p.Asp1966Gly
XM_005264585.5:c.5897A>G XP_005264642.1:p.Asp1966Gly