Canonical Allele Identifier: CA1707203
Community Standard Title: NM_001130987.2(DYSF):c.4982C>A (p.Thr1661Lys)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71660630C>A , CM000664.2:g.71660630C>A GRCh38
NC_000002.11:g.71887760C>A , CM000664.1:g.71887760C>A GRCh37
NC_000002.10:g.71741268C>A NCBI36
NG_008694.1:g.212008C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4982C>A MANE Select NP_001124459.1:p.Thr1661Lys
ENST00000410020.8:c.4982C>A MANE Select ENSP00000386881.3:p.Thr1661Lys
NM_003494.4:c.4865C>A MANE Plus Clinical NP_003485.1:p.Thr1622Lys
ENST00000258104.8:c.4865C>A MANE Plus Clinical ENSP00000258104.3:p.Thr1622Lys
NM_001130455.1:c.4868C>A NP_001123927.1:p.Thr1623Lys
NM_001130455.2:c.4868C>A NP_001123927.1:p.Thr1623Lys
NM_001130976.1:c.4823C>A NP_001124448.1:p.Thr1608Lys
NM_001130976.2:c.4823C>A NP_001124448.1:p.Thr1608Lys
NM_001130977.1:c.4886C>A NP_001124449.1:p.Thr1629Lys
NM_001130977.2:c.4886C>A NP_001124449.1:p.Thr1629Lys
NM_001130978.1:c.4928C>A NP_001124450.1:p.Thr1643Lys
NM_001130978.2:c.4928C>A NP_001124450.1:p.Thr1643Lys
NM_001130979.1:c.4958C>A NP_001124451.1:p.Thr1653Lys
NM_001130979.2:c.4958C>A NP_001124451.1:p.Thr1653Lys
NM_001130980.1:c.4916C>A NP_001124452.1:p.Thr1639Lys
NM_001130980.2:c.4916C>A NP_001124452.1:p.Thr1639Lys
NM_001130981.1:c.4979C>A NP_001124453.1:p.Thr1660Lys
NM_001130981.2:c.4979C>A NP_001124453.1:p.Thr1660Lys
NM_001130982.1:c.4961C>A NP_001124454.1:p.Thr1654Lys
NM_001130982.2:c.4961C>A NP_001124454.1:p.Thr1654Lys
NM_001130983.1:c.4931C>A NP_001124455.1:p.Thr1644Lys
NM_001130983.2:c.4931C>A NP_001124455.1:p.Thr1644Lys
NM_001130984.1:c.4889C>A NP_001124456.1:p.Thr1630Lys
NM_001130984.2:c.4889C>A NP_001124456.1:p.Thr1630Lys
NM_001130985.1:c.4919C>A NP_001124457.1:p.Thr1640Lys
NM_001130985.2:c.4919C>A NP_001124457.1:p.Thr1640Lys
NM_001130986.1:c.4826C>A NP_001124458.1:p.Thr1609Lys
NM_001130986.2:c.4826C>A NP_001124458.1:p.Thr1609Lys
NM_001130987.1:c.4982C>A NP_001124459.1:p.Thr1661Lys
NM_003494.3:c.4865C>A NP_003485.1:p.Thr1622Lys
ENST00000258104.7:c.4865C>A ENSP00000258104.3:p.Thr1622Lys
ENST00000394120.6:c.4868C>A ENSP00000377678.2:p.Thr1623Lys
ENST00000409366.5:c.4931C>A ENSP00000386512.1:p.Thr1644Lys
ENST00000409582.7:c.4979C>A ENSP00000386547.3:p.Thr1660Lys
ENST00000409651.5:c.4961C>A ENSP00000386683.1:p.Thr1654Lys
ENST00000409744.5:c.4889C>A ENSP00000386285.1:p.Thr1630Lys
ENST00000409762.5:c.4916C>A ENSP00000387137.1:p.Thr1639Lys
ENST00000410020.7:c.4982C>A ENSP00000386881.3:p.Thr1661Lys
ENST00000410041.1:c.4919C>A ENSP00000386617.1:p.Thr1640Lys
ENST00000413539.6:c.4958C>A ENSP00000407046.2:p.Thr1653Lys
ENST00000429174.6:c.4928C>A ENSP00000398305.2:p.Thr1643Lys
ENST00000479049.6:n.1750C>A
ENST00000698057.1:c.2396C>A ENSP00000513536.1:p.Thr799Lys
ENST00000698058.1:c.1613C>A ENSP00000513537.1:p.Thr538Lys
ENST00000698059.1:c.1721C>A ENSP00000513538.1:p.Thr574Lys
XM_005264584.3:c.5024C>A XP_005264641.1:p.Thr1675Lys
XM_005264584.4:c.5024C>A XP_005264641.1:p.Thr1675Lys
XM_005264585.3:c.5021C>A XP_005264642.1:p.Thr1674Lys
XM_005264585.5:c.5021C>A XP_005264642.1:p.Thr1674Lys
XR_001738969.1:n.5182C>A