Canonical Allele Identifier: CA347219870
Community Standard Title: NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71659010C>T , CM000664.2:g.71659010C>T GRCh38
NC_000002.11:g.71886140C>T , CM000664.1:g.71886140C>T GRCh37
NC_000002.10:g.71739648C>T NCBI36
NG_008694.1:g.210388C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4888C>T MANE Select NP_001124459.1:p.Gln1630Ter
ENST00000410020.8:c.4888C>T MANE Select ENSP00000386881.3:p.Gln1630Ter
NM_003494.4:c.4771C>T MANE Plus Clinical NP_003485.1:p.Gln1591Ter
ENST00000258104.8:c.4771C>T MANE Plus Clinical ENSP00000258104.3:p.Gln1591Ter
NM_001130455.1:c.4774C>T NP_001123927.1:p.Gln1592Ter
NM_001130455.2:c.4774C>T NP_001123927.1:p.Gln1592Ter
NM_001130976.1:c.4729C>T NP_001124448.1:p.Gln1577Ter
NM_001130976.2:c.4729C>T NP_001124448.1:p.Gln1577Ter
NM_001130977.1:c.4792C>T NP_001124449.1:p.Gln1598Ter
NM_001130977.2:c.4792C>T NP_001124449.1:p.Gln1598Ter
NM_001130978.1:c.4834C>T NP_001124450.1:p.Gln1612Ter
NM_001130978.2:c.4834C>T NP_001124450.1:p.Gln1612Ter
NM_001130979.1:c.4864C>T NP_001124451.1:p.Gln1622Ter
NM_001130979.2:c.4864C>T NP_001124451.1:p.Gln1622Ter
NM_001130980.1:c.4822C>T NP_001124452.1:p.Gln1608Ter
NM_001130980.2:c.4822C>T NP_001124452.1:p.Gln1608Ter
NM_001130981.1:c.4885C>T NP_001124453.1:p.Gln1629Ter
NM_001130981.2:c.4885C>T NP_001124453.1:p.Gln1629Ter
NM_001130982.1:c.4867C>T NP_001124454.1:p.Gln1623Ter
NM_001130982.2:c.4867C>T NP_001124454.1:p.Gln1623Ter
NM_001130983.1:c.4837C>T NP_001124455.1:p.Gln1613Ter
NM_001130983.2:c.4837C>T NP_001124455.1:p.Gln1613Ter
NM_001130984.1:c.4795C>T NP_001124456.1:p.Gln1599Ter
NM_001130984.2:c.4795C>T NP_001124456.1:p.Gln1599Ter
NM_001130985.1:c.4825C>T NP_001124457.1:p.Gln1609Ter
NM_001130985.2:c.4825C>T NP_001124457.1:p.Gln1609Ter
NM_001130986.1:c.4732C>T NP_001124458.1:p.Gln1578Ter
NM_001130986.2:c.4732C>T NP_001124458.1:p.Gln1578Ter
NM_001130987.1:c.4888C>T NP_001124459.1:p.Gln1630Ter
NM_003494.3:c.4771C>T NP_003485.1:p.Gln1591Ter
ENST00000258104.7:c.4771C>T ENSP00000258104.3:p.Gln1591Ter
ENST00000394120.6:c.4774C>T ENSP00000377678.2:p.Gln1592Ter
ENST00000409366.5:c.4837C>T ENSP00000386512.1:p.Gln1613Ter
ENST00000409582.7:c.4885C>T ENSP00000386547.3:p.Gln1629Ter
ENST00000409651.5:c.4867C>T ENSP00000386683.1:p.Gln1623Ter
ENST00000409744.5:c.4795C>T ENSP00000386285.1:p.Gln1599Ter
ENST00000409762.5:c.4822C>T ENSP00000387137.1:p.Gln1608Ter
ENST00000410020.7:c.4888C>T ENSP00000386881.3:p.Gln1630Ter
ENST00000410041.1:c.4825C>T ENSP00000386617.1:p.Gln1609Ter
ENST00000413539.6:c.4864C>T ENSP00000407046.2:p.Gln1622Ter
ENST00000429174.6:c.4834C>T ENSP00000398305.2:p.Gln1612Ter
ENST00000479049.6:n.1656C>T
ENST00000698057.1:c.2302C>T ENSP00000513536.1:p.Gln768Ter
ENST00000698058.1:c.1519C>T ENSP00000513537.1:p.Gln507Ter
ENST00000698059.1:c.1627C>T ENSP00000513538.1:p.Gln543Ter
XM_005264584.3:c.4930C>T XP_005264641.1:p.Gln1644Ter
XM_005264584.4:c.4930C>T XP_005264641.1:p.Gln1644Ter
XM_005264585.3:c.4927C>T XP_005264642.1:p.Gln1643Ter
XM_005264585.5:c.4927C>T XP_005264642.1:p.Gln1643Ter
XR_001738969.1:n.5088C>T