Canonical Allele Identifier: CA1706435
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 285200
dbSNP Id: rs372880553
gnomAD v2: 2-71797768-C-T
gnomAD v3: 2-71570638-C-T
gnomAD v4: 2-71570638-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71570638C>T , CM000664.2:g.71570638C>T GRCh38
NC_000002.11:g.71797768C>T , CM000664.1:g.71797768C>T GRCh37
NC_000002.10:g.71651276C>T NCBI36
NG_008694.1:g.122016C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.497C>T ENSP00000513536.1:p.Pro166Leu
ENST00000258104.8:c.3071C>T MANE Plus Clinical ENSP00000258104.3:p.Pro1024Leu
ENST00000410020.8:c.3125C>T MANE Select ENSP00000386881.3:p.Pro1042Leu
ENST00000258104.7:c.3071C>T ENSP00000258104.3:p.Pro1024Leu
ENST00000394120.6:c.3074C>T ENSP00000377678.2:p.Pro1025Leu
ENST00000409366.5:c.3074C>T ENSP00000386512.1:p.Pro1025Leu
ENST00000409582.7:c.3122C>T ENSP00000386547.3:p.Pro1041Leu
ENST00000409651.5:c.3167C>T ENSP00000386683.1:p.Pro1056Leu
ENST00000409744.5:c.3032C>T ENSP00000386285.1:p.Pro1011Leu
ENST00000409762.5:c.3122C>T ENSP00000387137.1:p.Pro1041Leu
ENST00000410020.7:c.3125C>T ENSP00000386881.3:p.Pro1042Leu
ENST00000410041.1:c.3125C>T ENSP00000386617.1:p.Pro1042Leu
ENST00000413539.6:c.3164C>T ENSP00000407046.2:p.Pro1055Leu
ENST00000429174.6:c.3071C>T ENSP00000398305.2:p.Pro1024Leu
ENST00000461565.1:n.237C>T
NM_001130455.1:c.3074C>T NP_001123927.1:p.Pro1025Leu
NM_001130976.1:c.3029C>T NP_001124448.1:p.Pro1010Leu
NM_001130977.1:c.3029C>T NP_001124449.1:p.Pro1010Leu
NM_001130978.1:c.3071C>T NP_001124450.1:p.Pro1024Leu
NM_001130979.1:c.3164C>T NP_001124451.1:p.Pro1055Leu
NM_001130980.1:c.3122C>T NP_001124452.1:p.Pro1041Leu
NM_001130981.1:c.3122C>T NP_001124453.1:p.Pro1041Leu
NM_001130982.1:c.3167C>T NP_001124454.1:p.Pro1056Leu
NM_001130983.1:c.3074C>T NP_001124455.1:p.Pro1025Leu
NM_001130984.1:c.3032C>T NP_001124456.1:p.Pro1011Leu
NM_001130985.1:c.3125C>T NP_001124457.1:p.Pro1042Leu
NM_001130986.1:c.3032C>T NP_001124458.1:p.Pro1011Leu
NM_001130987.1:c.3125C>T NP_001124459.1:p.Pro1042Leu
NM_003494.3:c.3071C>T NP_003485.1:p.Pro1024Leu
XM_005264584.3:c.3167C>T XP_005264641.1:p.Pro1056Leu
XM_005264585.3:c.3164C>T XP_005264642.1:p.Pro1055Leu
XM_005264584.4:c.3167C>T XP_005264641.1:p.Pro1056Leu
XM_005264585.5:c.3164C>T XP_005264642.1:p.Pro1055Leu
XR_001738969.1:n.3325C>T
NM_001130987.2:c.3125C>T MANE Select NP_001124459.1:p.Pro1042Leu
NM_001130455.2:c.3074C>T NP_001123927.1:p.Pro1025Leu
NM_001130976.2:c.3029C>T NP_001124448.1:p.Pro1010Leu
NM_001130977.2:c.3029C>T NP_001124449.1:p.Pro1010Leu
NM_001130978.2:c.3071C>T NP_001124450.1:p.Pro1024Leu
NM_001130979.2:c.3164C>T NP_001124451.1:p.Pro1055Leu
NM_001130980.2:c.3122C>T NP_001124452.1:p.Pro1041Leu
NM_001130981.2:c.3122C>T NP_001124453.1:p.Pro1041Leu
NM_001130982.2:c.3167C>T NP_001124454.1:p.Pro1056Leu
NM_001130983.2:c.3074C>T NP_001124455.1:p.Pro1025Leu
NM_001130984.2:c.3032C>T NP_001124456.1:p.Pro1011Leu
NM_001130985.2:c.3125C>T NP_001124457.1:p.Pro1042Leu
NM_001130986.2:c.3032C>T NP_001124458.1:p.Pro1011Leu
NM_003494.4:c.3071C>T MANE Plus Clinical NP_003485.1:p.Pro1024Leu