Canonical Allele Identifier: CA347213684
Community Standard Title: NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71568029G>T , CM000664.2:g.71568029G>T GRCh38
NC_000002.11:g.71795159G>T , CM000664.1:g.71795159G>T GRCh37
NC_000002.10:g.71648667G>T NCBI36
NG_008694.1:g.119407G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.2644G>T MANE Select NP_001124459.1:p.Glu882Ter
ENST00000410020.8:c.2644G>T MANE Select ENSP00000386881.3:p.Glu882Ter
NM_003494.4:c.2590G>T MANE Plus Clinical NP_003485.1:p.Glu864Ter
ENST00000258104.8:c.2590G>T MANE Plus Clinical ENSP00000258104.3:p.Glu864Ter
NM_001130455.1:c.2593G>T NP_001123927.1:p.Glu865Ter
NM_001130455.2:c.2593G>T NP_001123927.1:p.Glu865Ter
NM_001130976.1:c.2548G>T NP_001124448.1:p.Glu850Ter
NM_001130976.2:c.2548G>T NP_001124448.1:p.Glu850Ter
NM_001130977.1:c.2548G>T NP_001124449.1:p.Glu850Ter
NM_001130977.2:c.2548G>T NP_001124449.1:p.Glu850Ter
NM_001130978.1:c.2590G>T NP_001124450.1:p.Glu864Ter
NM_001130978.2:c.2590G>T NP_001124450.1:p.Glu864Ter
NM_001130979.1:c.2683G>T NP_001124451.1:p.Glu895Ter
NM_001130979.2:c.2683G>T NP_001124451.1:p.Glu895Ter
NM_001130980.1:c.2641G>T NP_001124452.1:p.Glu881Ter
NM_001130980.2:c.2641G>T NP_001124452.1:p.Glu881Ter
NM_001130981.1:c.2641G>T NP_001124453.1:p.Glu881Ter
NM_001130981.2:c.2641G>T NP_001124453.1:p.Glu881Ter
NM_001130982.1:c.2686G>T NP_001124454.1:p.Glu896Ter
NM_001130982.2:c.2686G>T NP_001124454.1:p.Glu896Ter
NM_001130983.1:c.2593G>T NP_001124455.1:p.Glu865Ter
NM_001130983.2:c.2593G>T NP_001124455.1:p.Glu865Ter
NM_001130984.1:c.2551G>T NP_001124456.1:p.Glu851Ter
NM_001130984.2:c.2551G>T NP_001124456.1:p.Glu851Ter
NM_001130985.1:c.2644G>T NP_001124457.1:p.Glu882Ter
NM_001130985.2:c.2644G>T NP_001124457.1:p.Glu882Ter
NM_001130986.1:c.2551G>T NP_001124458.1:p.Glu851Ter
NM_001130986.2:c.2551G>T NP_001124458.1:p.Glu851Ter
NM_001130987.1:c.2644G>T NP_001124459.1:p.Glu882Ter
NM_003494.3:c.2590G>T NP_003485.1:p.Glu864Ter
ENST00000258104.7:c.2590G>T ENSP00000258104.3:p.Glu864Ter
ENST00000394120.6:c.2593G>T ENSP00000377678.2:p.Glu865Ter
ENST00000409366.5:c.2593G>T ENSP00000386512.1:p.Glu865Ter
ENST00000409582.7:c.2641G>T ENSP00000386547.3:p.Glu881Ter
ENST00000409651.5:c.2686G>T ENSP00000386683.1:p.Glu896Ter
ENST00000409744.5:c.2551G>T ENSP00000386285.1:p.Glu851Ter
ENST00000409762.5:c.2641G>T ENSP00000387137.1:p.Glu881Ter
ENST00000410020.7:c.2644G>T ENSP00000386881.3:p.Glu882Ter
ENST00000410041.1:c.2644G>T ENSP00000386617.1:p.Glu882Ter
ENST00000413539.6:c.2683G>T ENSP00000407046.2:p.Glu895Ter
ENST00000429174.6:c.2590G>T ENSP00000398305.2:p.Glu864Ter
ENST00000698057.1:c.16G>T ENSP00000513536.1:p.Glu6Ter
XM_005264584.3:c.2686G>T XP_005264641.1:p.Glu896Ter
XM_005264584.4:c.2686G>T XP_005264641.1:p.Glu896Ter
XM_005264585.3:c.2683G>T XP_005264642.1:p.Glu895Ter
XM_005264585.5:c.2683G>T XP_005264642.1:p.Glu895Ter
XR_001738969.1:n.2844G>T