Canonical Allele Identifier: CA1707245
Community Standard Title: NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71664366C>T , CM000664.2:g.71664366C>T GRCh38
NC_000002.11:g.71891496C>T , CM000664.1:g.71891496C>T GRCh37
NC_000002.10:g.71745004C>T NCBI36
NG_008694.1:g.215744C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5102C>T MANE Select NP_001124459.1:p.Thr1701Met
ENST00000410020.8:c.5102C>T MANE Select ENSP00000386881.3:p.Thr1701Met
NM_003494.4:c.4985C>T MANE Plus Clinical NP_003485.1:p.Thr1662Met
ENST00000258104.8:c.4985C>T MANE Plus Clinical ENSP00000258104.3:p.Thr1662Met
NM_001130455.1:c.4988C>T NP_001123927.1:p.Thr1663Met
NM_001130455.2:c.4988C>T NP_001123927.1:p.Thr1663Met
NM_001130976.1:c.4943C>T NP_001124448.1:p.Thr1648Met
NM_001130976.2:c.4943C>T NP_001124448.1:p.Thr1648Met
NM_001130977.1:c.5006C>T NP_001124449.1:p.Thr1669Met
NM_001130977.2:c.5006C>T NP_001124449.1:p.Thr1669Met
NM_001130978.1:c.5048C>T NP_001124450.1:p.Thr1683Met
NM_001130978.2:c.5048C>T NP_001124450.1:p.Thr1683Met
NM_001130979.1:c.5078C>T NP_001124451.1:p.Thr1693Met
NM_001130979.2:c.5078C>T NP_001124451.1:p.Thr1693Met
NM_001130980.1:c.5036C>T NP_001124452.1:p.Thr1679Met
NM_001130980.2:c.5036C>T NP_001124452.1:p.Thr1679Met
NM_001130981.1:c.5099C>T NP_001124453.1:p.Thr1700Met
NM_001130981.2:c.5099C>T NP_001124453.1:p.Thr1700Met
NM_001130982.1:c.5081C>T NP_001124454.1:p.Thr1694Met
NM_001130982.2:c.5081C>T NP_001124454.1:p.Thr1694Met
NM_001130983.1:c.5051C>T NP_001124455.1:p.Thr1684Met
NM_001130983.2:c.5051C>T NP_001124455.1:p.Thr1684Met
NM_001130984.1:c.5009C>T NP_001124456.1:p.Thr1670Met
NM_001130984.2:c.5009C>T NP_001124456.1:p.Thr1670Met
NM_001130985.1:c.5039C>T NP_001124457.1:p.Thr1680Met
NM_001130985.2:c.5039C>T NP_001124457.1:p.Thr1680Met
NM_001130986.1:c.4946C>T NP_001124458.1:p.Thr1649Met
NM_001130986.2:c.4946C>T NP_001124458.1:p.Thr1649Met
NM_001130987.1:c.5102C>T NP_001124459.1:p.Thr1701Met
NM_003494.3:c.4985C>T NP_003485.1:p.Thr1662Met
ENST00000258104.7:c.4985C>T ENSP00000258104.3:p.Thr1662Met
ENST00000394120.6:c.4988C>T ENSP00000377678.2:p.Thr1663Met
ENST00000409366.5:c.5051C>T ENSP00000386512.1:p.Thr1684Met
ENST00000409582.7:c.5099C>T ENSP00000386547.3:p.Thr1700Met
ENST00000409651.5:c.5081C>T ENSP00000386683.1:p.Thr1694Met
ENST00000409744.5:c.5009C>T ENSP00000386285.1:p.Thr1670Met
ENST00000409762.5:c.5036C>T ENSP00000387137.1:p.Thr1679Met
ENST00000410020.7:c.5102C>T ENSP00000386881.3:p.Thr1701Met
ENST00000410041.1:c.5039C>T ENSP00000386617.1:p.Thr1680Met
ENST00000413539.6:c.5078C>T ENSP00000407046.2:p.Thr1693Met
ENST00000429174.6:c.5048C>T ENSP00000398305.2:p.Thr1683Met
ENST00000479049.6:n.1870C>T
ENST00000698057.1:c.2516C>T ENSP00000513536.1:p.Thr839Met
ENST00000698058.1:c.1733C>T ENSP00000513537.1:p.Thr578Met
ENST00000698059.1:c.1841C>T ENSP00000513538.1:p.Thr614Met
XM_005264584.3:c.5144C>T XP_005264641.1:p.Thr1715Met
XM_005264584.4:c.5144C>T XP_005264641.1:p.Thr1715Met
XM_005264585.3:c.5141C>T XP_005264642.1:p.Thr1714Met
XM_005264585.5:c.5141C>T XP_005264642.1:p.Thr1714Met
XR_001738969.1:n.5302C>T