Canonical Allele Identifier: CA1706892
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 289963
dbSNP Id: rs139529811
gnomAD v2: 2-71838641-A-G
gnomAD v3: 2-71611511-A-G
gnomAD v4: 2-71611511-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71611511A>G , CM000664.2:g.71611511A>G GRCh38
NC_000002.11:g.71838641A>G , CM000664.1:g.71838641A>G GRCh37
NC_000002.10:g.71692149A>G NCBI36
NG_008694.1:g.162889A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1520A>G ENSP00000513536.1:p.Asn507Ser
ENST00000698058.1:c.737A>G ENSP00000513537.1:p.Asn246Ser
ENST00000698059.1:c.695A>G ENSP00000513538.1:p.Asn232Ser
ENST00000258104.8:c.4052A>G MANE Plus Clinical ENSP00000258104.3:p.Asn1351Ser
ENST00000410020.8:c.4106A>G MANE Select ENSP00000386881.3:p.Asn1369Ser
ENST00000258104.7:c.4052A>G ENSP00000258104.3:p.Asn1351Ser
ENST00000394120.6:c.4055A>G ENSP00000377678.2:p.Asn1352Ser
ENST00000409366.5:c.4055A>G ENSP00000386512.1:p.Asn1352Ser
ENST00000409582.7:c.4103A>G ENSP00000386547.3:p.Asn1368Ser
ENST00000409651.5:c.4148A>G ENSP00000386683.1:p.Asn1383Ser
ENST00000409744.5:c.4013A>G ENSP00000386285.1:p.Asn1338Ser
ENST00000409762.5:c.4103A>G ENSP00000387137.1:p.Asn1368Ser
ENST00000410020.7:c.4106A>G ENSP00000386881.3:p.Asn1369Ser
ENST00000410041.1:c.4106A>G ENSP00000386617.1:p.Asn1369Ser
ENST00000413539.6:c.4145A>G ENSP00000407046.2:p.Asn1382Ser
ENST00000429174.6:c.4052A>G ENSP00000398305.2:p.Asn1351Ser
ENST00000468173.1:n.288A>G
ENST00000472873.5:n.436A>G
ENST00000479049.6:n.937A>G
ENST00000487180.5:n.271A>G
ENST00000494501.5:n.366-16A>G
NM_001130455.1:c.4055A>G NP_001123927.1:p.Asn1352Ser
NM_001130976.1:c.4010A>G NP_001124448.1:p.Asn1337Ser
NM_001130977.1:c.4010A>G NP_001124449.1:p.Asn1337Ser
NM_001130978.1:c.4052A>G NP_001124450.1:p.Asn1351Ser
NM_001130979.1:c.4145A>G NP_001124451.1:p.Asn1382Ser
NM_001130980.1:c.4103A>G NP_001124452.1:p.Asn1368Ser
NM_001130981.1:c.4103A>G NP_001124453.1:p.Asn1368Ser
NM_001130982.1:c.4148A>G NP_001124454.1:p.Asn1383Ser
NM_001130983.1:c.4055A>G NP_001124455.1:p.Asn1352Ser
NM_001130984.1:c.4013A>G NP_001124456.1:p.Asn1338Ser
NM_001130985.1:c.4106A>G NP_001124457.1:p.Asn1369Ser
NM_001130986.1:c.4013A>G NP_001124458.1:p.Asn1338Ser
NM_001130987.1:c.4106A>G NP_001124459.1:p.Asn1369Ser
NM_003494.3:c.4052A>G NP_003485.1:p.Asn1351Ser
XM_005264584.3:c.4148A>G XP_005264641.1:p.Asn1383Ser
XM_005264585.3:c.4145A>G XP_005264642.1:p.Asn1382Ser
XM_005264584.4:c.4148A>G XP_005264641.1:p.Asn1383Ser
XM_005264585.5:c.4145A>G XP_005264642.1:p.Asn1382Ser
XR_001738969.1:n.4306A>G
NM_001130987.2:c.4106A>G MANE Select NP_001124459.1:p.Asn1369Ser
NM_001130455.2:c.4055A>G NP_001123927.1:p.Asn1352Ser
NM_001130976.2:c.4010A>G NP_001124448.1:p.Asn1337Ser
NM_001130977.2:c.4010A>G NP_001124449.1:p.Asn1337Ser
NM_001130978.2:c.4052A>G NP_001124450.1:p.Asn1351Ser
NM_001130979.2:c.4145A>G NP_001124451.1:p.Asn1382Ser
NM_001130980.2:c.4103A>G NP_001124452.1:p.Asn1368Ser
NM_001130981.2:c.4103A>G NP_001124453.1:p.Asn1368Ser
NM_001130982.2:c.4148A>G NP_001124454.1:p.Asn1383Ser
NM_001130983.2:c.4055A>G NP_001124455.1:p.Asn1352Ser
NM_001130984.2:c.4013A>G NP_001124456.1:p.Asn1338Ser
NM_001130985.2:c.4106A>G NP_001124457.1:p.Asn1369Ser
NM_001130986.2:c.4013A>G NP_001124458.1:p.Asn1338Ser
NM_003494.4:c.4052A>G MANE Plus Clinical NP_003485.1:p.Asn1351Ser