Canonical Allele Identifier: CA1706899
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1984899
ClinVar RCV Id: RCV002775735
dbSNP Id: rs766274211
gnomAD v2: 2-71838664-G-A
gnomAD v3: 2-71611534-G-A
gnomAD v4: 2-71611534-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71611534G>A , CM000664.2:g.71611534G>A GRCh38
NC_000002.11:g.71838664G>A , CM000664.1:g.71838664G>A GRCh37
NC_000002.10:g.71692172G>A NCBI36
NG_008694.1:g.162912G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1543G>A ENSP00000513536.1:p.Val515Ile
ENST00000698058.1:c.760G>A ENSP00000513537.1:p.Val254Ile
ENST00000698059.1:c.718G>A ENSP00000513538.1:p.Val240Ile
ENST00000258104.8:c.4075G>A MANE Plus Clinical ENSP00000258104.3:p.Val1359Ile
ENST00000410020.8:c.4129G>A MANE Select ENSP00000386881.3:p.Val1377Ile
ENST00000258104.7:c.4075G>A ENSP00000258104.3:p.Val1359Ile
ENST00000394120.6:c.4078G>A ENSP00000377678.2:p.Val1360Ile
ENST00000409366.5:c.4078G>A ENSP00000386512.1:p.Val1360Ile
ENST00000409582.7:c.4126G>A ENSP00000386547.3:p.Val1376Ile
ENST00000409651.5:c.4171G>A ENSP00000386683.1:p.Val1391Ile
ENST00000409744.5:c.4036G>A ENSP00000386285.1:p.Val1346Ile
ENST00000409762.5:c.4126G>A ENSP00000387137.1:p.Val1376Ile
ENST00000410020.7:c.4129G>A ENSP00000386881.3:p.Val1377Ile
ENST00000410041.1:c.4129G>A ENSP00000386617.1:p.Val1377Ile
ENST00000413539.6:c.4168G>A ENSP00000407046.2:p.Val1390Ile
ENST00000429174.6:c.4075G>A ENSP00000398305.2:p.Val1359Ile
ENST00000468173.1:n.311G>A
ENST00000472873.5:n.459G>A
ENST00000479049.6:n.960G>A
ENST00000487180.5:n.294G>A
ENST00000494501.5:n.373G>A
NM_001130455.1:c.4078G>A NP_001123927.1:p.Val1360Ile
NM_001130976.1:c.4033G>A NP_001124448.1:p.Val1345Ile
NM_001130977.1:c.4033G>A NP_001124449.1:p.Val1345Ile
NM_001130978.1:c.4075G>A NP_001124450.1:p.Val1359Ile
NM_001130979.1:c.4168G>A NP_001124451.1:p.Val1390Ile
NM_001130980.1:c.4126G>A NP_001124452.1:p.Val1376Ile
NM_001130981.1:c.4126G>A NP_001124453.1:p.Val1376Ile
NM_001130982.1:c.4171G>A NP_001124454.1:p.Val1391Ile
NM_001130983.1:c.4078G>A NP_001124455.1:p.Val1360Ile
NM_001130984.1:c.4036G>A NP_001124456.1:p.Val1346Ile
NM_001130985.1:c.4129G>A NP_001124457.1:p.Val1377Ile
NM_001130986.1:c.4036G>A NP_001124458.1:p.Val1346Ile
NM_001130987.1:c.4129G>A NP_001124459.1:p.Val1377Ile
NM_003494.3:c.4075G>A NP_003485.1:p.Val1359Ile
XM_005264584.3:c.4171G>A XP_005264641.1:p.Val1391Ile
XM_005264585.3:c.4168G>A XP_005264642.1:p.Val1390Ile
XM_005264584.4:c.4171G>A XP_005264641.1:p.Val1391Ile
XM_005264585.5:c.4168G>A XP_005264642.1:p.Val1390Ile
XR_001738969.1:n.4329G>A
NM_001130987.2:c.4129G>A MANE Select NP_001124459.1:p.Val1377Ile
NM_001130455.2:c.4078G>A NP_001123927.1:p.Val1360Ile
NM_001130976.2:c.4033G>A NP_001124448.1:p.Val1345Ile
NM_001130977.2:c.4033G>A NP_001124449.1:p.Val1345Ile
NM_001130978.2:c.4075G>A NP_001124450.1:p.Val1359Ile
NM_001130979.2:c.4168G>A NP_001124451.1:p.Val1390Ile
NM_001130980.2:c.4126G>A NP_001124452.1:p.Val1376Ile
NM_001130981.2:c.4126G>A NP_001124453.1:p.Val1376Ile
NM_001130982.2:c.4171G>A NP_001124454.1:p.Val1391Ile
NM_001130983.2:c.4078G>A NP_001124455.1:p.Val1360Ile
NM_001130984.2:c.4036G>A NP_001124456.1:p.Val1346Ile
NM_001130985.2:c.4129G>A NP_001124457.1:p.Val1377Ile
NM_001130986.2:c.4036G>A NP_001124458.1:p.Val1346Ile
NM_003494.4:c.4075G>A MANE Plus Clinical NP_003485.1:p.Val1359Ile