Canonical Allele Identifier: CA347224046
Community Standard Title: NM_001130987.2(DYSF):c.3672C>G (p.Tyr1224Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71598661C>G , CM000664.2:g.71598661C>G GRCh38
NC_000002.11:g.71825791C>G , CM000664.1:g.71825791C>G GRCh37
NC_000002.10:g.71679299C>G NCBI36
NG_008694.1:g.150039C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.3672C>G MANE Select NP_001124459.1:p.Tyr1224Ter
ENST00000410020.8:c.3672C>G MANE Select ENSP00000386881.3:p.Tyr1224Ter
NM_003494.4:c.3618C>G MANE Plus Clinical NP_003485.1:p.Tyr1206Ter
ENST00000258104.8:c.3618C>G MANE Plus Clinical ENSP00000258104.3:p.Tyr1206Ter
NM_001130455.1:c.3621C>G NP_001123927.1:p.Tyr1207Ter
NM_001130455.2:c.3621C>G NP_001123927.1:p.Tyr1207Ter
NM_001130976.1:c.3576C>G NP_001124448.1:p.Tyr1192Ter
NM_001130976.2:c.3576C>G NP_001124448.1:p.Tyr1192Ter
NM_001130977.1:c.3576C>G NP_001124449.1:p.Tyr1192Ter
NM_001130977.2:c.3576C>G NP_001124449.1:p.Tyr1192Ter
NM_001130978.1:c.3618C>G NP_001124450.1:p.Tyr1206Ter
NM_001130978.2:c.3618C>G NP_001124450.1:p.Tyr1206Ter
NM_001130979.1:c.3711C>G NP_001124451.1:p.Tyr1237Ter
NM_001130979.2:c.3711C>G NP_001124451.1:p.Tyr1237Ter
NM_001130980.1:c.3669C>G NP_001124452.1:p.Tyr1223Ter
NM_001130980.2:c.3669C>G NP_001124452.1:p.Tyr1223Ter
NM_001130981.1:c.3669C>G NP_001124453.1:p.Tyr1223Ter
NM_001130981.2:c.3669C>G NP_001124453.1:p.Tyr1223Ter
NM_001130982.1:c.3714C>G NP_001124454.1:p.Tyr1238Ter
NM_001130982.2:c.3714C>G NP_001124454.1:p.Tyr1238Ter
NM_001130983.1:c.3621C>G NP_001124455.1:p.Tyr1207Ter
NM_001130983.2:c.3621C>G NP_001124455.1:p.Tyr1207Ter
NM_001130984.1:c.3579C>G NP_001124456.1:p.Tyr1193Ter
NM_001130984.2:c.3579C>G NP_001124456.1:p.Tyr1193Ter
NM_001130985.1:c.3672C>G NP_001124457.1:p.Tyr1224Ter
NM_001130985.2:c.3672C>G NP_001124457.1:p.Tyr1224Ter
NM_001130986.1:c.3579C>G NP_001124458.1:p.Tyr1193Ter
NM_001130986.2:c.3579C>G NP_001124458.1:p.Tyr1193Ter
NM_001130987.1:c.3672C>G NP_001124459.1:p.Tyr1224Ter
NM_003494.3:c.3618C>G NP_003485.1:p.Tyr1206Ter
ENST00000258104.7:c.3618C>G ENSP00000258104.3:p.Tyr1206Ter
ENST00000394120.6:c.3621C>G ENSP00000377678.2:p.Tyr1207Ter
ENST00000409366.5:c.3621C>G ENSP00000386512.1:p.Tyr1207Ter
ENST00000409582.7:c.3669C>G ENSP00000386547.3:p.Tyr1223Ter
ENST00000409651.5:c.3714C>G ENSP00000386683.1:p.Tyr1238Ter
ENST00000409744.5:c.3579C>G ENSP00000386285.1:p.Tyr1193Ter
ENST00000409762.5:c.3669C>G ENSP00000387137.1:p.Tyr1223Ter
ENST00000410020.7:c.3672C>G ENSP00000386881.3:p.Tyr1224Ter
ENST00000410041.1:c.3672C>G ENSP00000386617.1:p.Tyr1224Ter
ENST00000413539.6:c.3711C>G ENSP00000407046.2:p.Tyr1237Ter
ENST00000429174.6:c.3618C>G ENSP00000398305.2:p.Tyr1206Ter
ENST00000475076.5:n.446C>G
ENST00000479049.6:n.503C>G
ENST00000493767.1:n.339C>G
ENST00000698057.1:c.1044C>G ENSP00000513536.1:p.Tyr348Ter
ENST00000698058.1:c.261C>G ENSP00000513537.1:p.Tyr87Ter
ENST00000698059.1:c.261C>G ENSP00000513538.1:p.Tyr87Ter
XM_005264584.3:c.3714C>G XP_005264641.1:p.Tyr1238Ter
XM_005264584.4:c.3714C>G XP_005264641.1:p.Tyr1238Ter
XM_005264585.3:c.3711C>G XP_005264642.1:p.Tyr1237Ter
XM_005264585.5:c.3711C>G XP_005264642.1:p.Tyr1237Ter
XR_001738969.1:n.3872C>G