Canonical Allele Identifier: CA347219737
Community Standard Title: NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71658944C>T , CM000664.2:g.71658944C>T GRCh38
NC_000002.11:g.71886074C>T , CM000664.1:g.71886074C>T GRCh37
NC_000002.10:g.71739582C>T NCBI36
NG_008694.1:g.210322C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4822C>T MANE Select NP_001124459.1:p.Gln1608Ter
ENST00000410020.8:c.4822C>T MANE Select ENSP00000386881.3:p.Gln1608Ter
NM_003494.4:c.4705C>T MANE Plus Clinical NP_003485.1:p.Gln1569Ter
ENST00000258104.8:c.4705C>T MANE Plus Clinical ENSP00000258104.3:p.Gln1569Ter
NM_001130455.1:c.4708C>T NP_001123927.1:p.Gln1570Ter
NM_001130455.2:c.4708C>T NP_001123927.1:p.Gln1570Ter
NM_001130976.1:c.4663C>T NP_001124448.1:p.Gln1555Ter
NM_001130976.2:c.4663C>T NP_001124448.1:p.Gln1555Ter
NM_001130977.1:c.4726C>T NP_001124449.1:p.Gln1576Ter
NM_001130977.2:c.4726C>T NP_001124449.1:p.Gln1576Ter
NM_001130978.1:c.4768C>T NP_001124450.1:p.Gln1590Ter
NM_001130978.2:c.4768C>T NP_001124450.1:p.Gln1590Ter
NM_001130979.1:c.4798C>T NP_001124451.1:p.Gln1600Ter
NM_001130979.2:c.4798C>T NP_001124451.1:p.Gln1600Ter
NM_001130980.1:c.4756C>T NP_001124452.1:p.Gln1586Ter
NM_001130980.2:c.4756C>T NP_001124452.1:p.Gln1586Ter
NM_001130981.1:c.4819C>T NP_001124453.1:p.Gln1607Ter
NM_001130981.2:c.4819C>T NP_001124453.1:p.Gln1607Ter
NM_001130982.1:c.4801C>T NP_001124454.1:p.Gln1601Ter
NM_001130982.2:c.4801C>T NP_001124454.1:p.Gln1601Ter
NM_001130983.1:c.4771C>T NP_001124455.1:p.Gln1591Ter
NM_001130983.2:c.4771C>T NP_001124455.1:p.Gln1591Ter
NM_001130984.1:c.4729C>T NP_001124456.1:p.Gln1577Ter
NM_001130984.2:c.4729C>T NP_001124456.1:p.Gln1577Ter
NM_001130985.1:c.4759C>T NP_001124457.1:p.Gln1587Ter
NM_001130985.2:c.4759C>T NP_001124457.1:p.Gln1587Ter
NM_001130986.1:c.4666C>T NP_001124458.1:p.Gln1556Ter
NM_001130986.2:c.4666C>T NP_001124458.1:p.Gln1556Ter
NM_001130987.1:c.4822C>T NP_001124459.1:p.Gln1608Ter
NM_003494.3:c.4705C>T NP_003485.1:p.Gln1569Ter
ENST00000258104.7:c.4705C>T ENSP00000258104.3:p.Gln1569Ter
ENST00000394120.6:c.4708C>T ENSP00000377678.2:p.Gln1570Ter
ENST00000409366.5:c.4771C>T ENSP00000386512.1:p.Gln1591Ter
ENST00000409582.7:c.4819C>T ENSP00000386547.3:p.Gln1607Ter
ENST00000409651.5:c.4801C>T ENSP00000386683.1:p.Gln1601Ter
ENST00000409744.5:c.4729C>T ENSP00000386285.1:p.Gln1577Ter
ENST00000409762.5:c.4756C>T ENSP00000387137.1:p.Gln1586Ter
ENST00000410020.7:c.4822C>T ENSP00000386881.3:p.Gln1608Ter
ENST00000410041.1:c.4759C>T ENSP00000386617.1:p.Gln1587Ter
ENST00000413539.6:c.4798C>T ENSP00000407046.2:p.Gln1600Ter
ENST00000429174.6:c.4768C>T ENSP00000398305.2:p.Gln1590Ter
ENST00000479049.6:n.1590C>T
ENST00000698057.1:c.2236C>T ENSP00000513536.1:p.Gln746Ter
ENST00000698058.1:c.1453C>T ENSP00000513537.1:p.Gln485Ter
ENST00000698059.1:c.1561C>T ENSP00000513538.1:p.Gln521Ter
XM_005264584.3:c.4864C>T XP_005264641.1:p.Gln1622Ter
XM_005264584.4:c.4864C>T XP_005264641.1:p.Gln1622Ter
XM_005264585.3:c.4861C>T XP_005264642.1:p.Gln1621Ter
XM_005264585.5:c.4861C>T XP_005264642.1:p.Gln1621Ter
XR_001738969.1:n.5022C>T