Canonical Allele Identifier: CA347218020
Community Standard Title: NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71644036C>G , CM000664.2:g.71644036C>G GRCh38
NC_000002.11:g.71871166C>G , CM000664.1:g.71871166C>G GRCh37
NC_000002.10:g.71724674C>G NCBI36
NG_008694.1:g.195414C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4599C>G MANE Select NP_001124459.1:p.Tyr1533Ter
ENST00000410020.8:c.4599C>G MANE Select ENSP00000386881.3:p.Tyr1533Ter
NM_003494.4:c.4482C>G MANE Plus Clinical NP_003485.1:p.Tyr1494Ter
ENST00000258104.8:c.4482C>G MANE Plus Clinical ENSP00000258104.3:p.Tyr1494Ter
NM_001130455.1:c.4485C>G NP_001123927.1:p.Tyr1495Ter
NM_001130455.2:c.4485C>G NP_001123927.1:p.Tyr1495Ter
NM_001130976.1:c.4440C>G NP_001124448.1:p.Tyr1480Ter
NM_001130976.2:c.4440C>G NP_001124448.1:p.Tyr1480Ter
NM_001130977.1:c.4503C>G NP_001124449.1:p.Tyr1501Ter
NM_001130977.2:c.4503C>G NP_001124449.1:p.Tyr1501Ter
NM_001130978.1:c.4545C>G NP_001124450.1:p.Tyr1515Ter
NM_001130978.2:c.4545C>G NP_001124450.1:p.Tyr1515Ter
NM_001130979.1:c.4575C>G NP_001124451.1:p.Tyr1525Ter
NM_001130979.2:c.4575C>G NP_001124451.1:p.Tyr1525Ter
NM_001130980.1:c.4533C>G NP_001124452.1:p.Tyr1511Ter
NM_001130980.2:c.4533C>G NP_001124452.1:p.Tyr1511Ter
NM_001130981.1:c.4596C>G NP_001124453.1:p.Tyr1532Ter
NM_001130981.2:c.4596C>G NP_001124453.1:p.Tyr1532Ter
NM_001130982.1:c.4578C>G NP_001124454.1:p.Tyr1526Ter
NM_001130982.2:c.4578C>G NP_001124454.1:p.Tyr1526Ter
NM_001130983.1:c.4548C>G NP_001124455.1:p.Tyr1516Ter
NM_001130983.2:c.4548C>G NP_001124455.1:p.Tyr1516Ter
NM_001130984.1:c.4506C>G NP_001124456.1:p.Tyr1502Ter
NM_001130984.2:c.4506C>G NP_001124456.1:p.Tyr1502Ter
NM_001130985.1:c.4536C>G NP_001124457.1:p.Tyr1512Ter
NM_001130985.2:c.4536C>G NP_001124457.1:p.Tyr1512Ter
NM_001130986.1:c.4443C>G NP_001124458.1:p.Tyr1481Ter
NM_001130986.2:c.4443C>G NP_001124458.1:p.Tyr1481Ter
NM_001130987.1:c.4599C>G NP_001124459.1:p.Tyr1533Ter
NM_003494.3:c.4482C>G NP_003485.1:p.Tyr1494Ter
ENST00000258104.7:c.4482C>G ENSP00000258104.3:p.Tyr1494Ter
ENST00000394120.6:c.4485C>G ENSP00000377678.2:p.Tyr1495Ter
ENST00000409366.5:c.4548C>G ENSP00000386512.1:p.Tyr1516Ter
ENST00000409582.7:c.4596C>G ENSP00000386547.3:p.Tyr1532Ter
ENST00000409651.5:c.4578C>G ENSP00000386683.1:p.Tyr1526Ter
ENST00000409744.5:c.4506C>G ENSP00000386285.1:p.Tyr1502Ter
ENST00000409762.5:c.4533C>G ENSP00000387137.1:p.Tyr1511Ter
ENST00000410020.7:c.4599C>G ENSP00000386881.3:p.Tyr1533Ter
ENST00000410041.1:c.4536C>G ENSP00000386617.1:p.Tyr1512Ter
ENST00000413539.6:c.4575C>G ENSP00000407046.2:p.Tyr1525Ter
ENST00000429174.6:c.4545C>G ENSP00000398305.2:p.Tyr1515Ter
ENST00000479049.6:n.1367C>G
ENST00000698057.1:c.2013C>G ENSP00000513536.1:p.Tyr671Ter
ENST00000698058.1:c.1230C>G ENSP00000513537.1:p.Tyr410Ter
ENST00000698059.1:c.1338C>G ENSP00000513538.1:p.Tyr446Ter
XM_005264584.3:c.4641C>G XP_005264641.1:p.Tyr1547Ter
XM_005264584.4:c.4641C>G XP_005264641.1:p.Tyr1547Ter
XM_005264585.3:c.4638C>G XP_005264642.1:p.Tyr1546Ter
XM_005264585.5:c.4638C>G XP_005264642.1:p.Tyr1546Ter
XR_001738969.1:n.4799C>G