Canonical Allele Identifier: CA347220295
Community Standard Title: NM_001130987.2(DYSF):c.5061T>G (p.Tyr1687Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71664325T>G , CM000664.2:g.71664325T>G GRCh38
NC_000002.11:g.71891455T>G , CM000664.1:g.71891455T>G GRCh37
NC_000002.10:g.71744963T>G NCBI36
NG_008694.1:g.215703T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5061T>G MANE Select NP_001124459.1:p.Tyr1687Ter
ENST00000410020.8:c.5061T>G MANE Select ENSP00000386881.3:p.Tyr1687Ter
NM_003494.4:c.4944T>G MANE Plus Clinical NP_003485.1:p.Tyr1648Ter
ENST00000258104.8:c.4944T>G MANE Plus Clinical ENSP00000258104.3:p.Tyr1648Ter
NM_001130455.1:c.4947T>G NP_001123927.1:p.Tyr1649Ter
NM_001130455.2:c.4947T>G NP_001123927.1:p.Tyr1649Ter
NM_001130976.1:c.4902T>G NP_001124448.1:p.Tyr1634Ter
NM_001130976.2:c.4902T>G NP_001124448.1:p.Tyr1634Ter
NM_001130977.1:c.4965T>G NP_001124449.1:p.Tyr1655Ter
NM_001130977.2:c.4965T>G NP_001124449.1:p.Tyr1655Ter
NM_001130978.1:c.5007T>G NP_001124450.1:p.Tyr1669Ter
NM_001130978.2:c.5007T>G NP_001124450.1:p.Tyr1669Ter
NM_001130979.1:c.5037T>G NP_001124451.1:p.Tyr1679Ter
NM_001130979.2:c.5037T>G NP_001124451.1:p.Tyr1679Ter
NM_001130980.1:c.4995T>G NP_001124452.1:p.Tyr1665Ter
NM_001130980.2:c.4995T>G NP_001124452.1:p.Tyr1665Ter
NM_001130981.1:c.5058T>G NP_001124453.1:p.Tyr1686Ter
NM_001130981.2:c.5058T>G NP_001124453.1:p.Tyr1686Ter
NM_001130982.1:c.5040T>G NP_001124454.1:p.Tyr1680Ter
NM_001130982.2:c.5040T>G NP_001124454.1:p.Tyr1680Ter
NM_001130983.1:c.5010T>G NP_001124455.1:p.Tyr1670Ter
NM_001130983.2:c.5010T>G NP_001124455.1:p.Tyr1670Ter
NM_001130984.1:c.4968T>G NP_001124456.1:p.Tyr1656Ter
NM_001130984.2:c.4968T>G NP_001124456.1:p.Tyr1656Ter
NM_001130985.1:c.4998T>G NP_001124457.1:p.Tyr1666Ter
NM_001130985.2:c.4998T>G NP_001124457.1:p.Tyr1666Ter
NM_001130986.1:c.4905T>G NP_001124458.1:p.Tyr1635Ter
NM_001130986.2:c.4905T>G NP_001124458.1:p.Tyr1635Ter
NM_001130987.1:c.5061T>G NP_001124459.1:p.Tyr1687Ter
NM_003494.3:c.4944T>G NP_003485.1:p.Tyr1648Ter
ENST00000258104.7:c.4944T>G ENSP00000258104.3:p.Tyr1648Ter
ENST00000394120.6:c.4947T>G ENSP00000377678.2:p.Tyr1649Ter
ENST00000409366.5:c.5010T>G ENSP00000386512.1:p.Tyr1670Ter
ENST00000409582.7:c.5058T>G ENSP00000386547.3:p.Tyr1686Ter
ENST00000409651.5:c.5040T>G ENSP00000386683.1:p.Tyr1680Ter
ENST00000409744.5:c.4968T>G ENSP00000386285.1:p.Tyr1656Ter
ENST00000409762.5:c.4995T>G ENSP00000387137.1:p.Tyr1665Ter
ENST00000410020.7:c.5061T>G ENSP00000386881.3:p.Tyr1687Ter
ENST00000410041.1:c.4998T>G ENSP00000386617.1:p.Tyr1666Ter
ENST00000413539.6:c.5037T>G ENSP00000407046.2:p.Tyr1679Ter
ENST00000429174.6:c.5007T>G ENSP00000398305.2:p.Tyr1669Ter
ENST00000479049.6:n.1829T>G
ENST00000698057.1:c.2475T>G ENSP00000513536.1:p.Tyr825Ter
ENST00000698058.1:c.1692T>G ENSP00000513537.1:p.Tyr564Ter
ENST00000698059.1:c.1800T>G ENSP00000513538.1:p.Tyr600Ter
XM_005264584.3:c.5103T>G XP_005264641.1:p.Tyr1701Ter
XM_005264584.4:c.5103T>G XP_005264641.1:p.Tyr1701Ter
XM_005264585.3:c.5100T>G XP_005264642.1:p.Tyr1700Ter
XM_005264585.5:c.5100T>G XP_005264642.1:p.Tyr1700Ter
XR_001738969.1:n.5261T>G