Canonical Allele Identifier: CA347225264
Community Standard Title: NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71674254C>T , CM000664.2:g.71674254C>T GRCh38
NC_000002.11:g.71901384C>T , CM000664.1:g.71901384C>T GRCh37
NC_000002.10:g.71754892C>T NCBI36
NG_008694.1:g.225632C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5842C>T MANE Select NP_001124459.1:p.Gln1948Ter
ENST00000410020.8:c.5842C>T MANE Select ENSP00000386881.3:p.Gln1948Ter
NM_003494.4:c.5725C>T MANE Plus Clinical NP_003485.1:p.Gln1909Ter
ENST00000258104.8:c.5725C>T MANE Plus Clinical ENSP00000258104.3:p.Gln1909Ter
NM_001130455.1:c.5728C>T NP_001123927.1:p.Gln1910Ter
NM_001130455.2:c.5728C>T NP_001123927.1:p.Gln1910Ter
NM_001130976.1:c.5683C>T NP_001124448.1:p.Gln1895Ter
NM_001130976.2:c.5683C>T NP_001124448.1:p.Gln1895Ter
NM_001130977.1:c.5746C>T NP_001124449.1:p.Gln1916Ter
NM_001130977.2:c.5746C>T NP_001124449.1:p.Gln1916Ter
NM_001130978.1:c.5788C>T NP_001124450.1:p.Gln1930Ter
NM_001130978.2:c.5788C>T NP_001124450.1:p.Gln1930Ter
NM_001130979.1:c.5818C>T NP_001124451.1:p.Gln1940Ter
NM_001130979.2:c.5818C>T NP_001124451.1:p.Gln1940Ter
NM_001130980.1:c.5776C>T NP_001124452.1:p.Gln1926Ter
NM_001130980.2:c.5776C>T NP_001124452.1:p.Gln1926Ter
NM_001130981.1:c.5839C>T NP_001124453.1:p.Gln1947Ter
NM_001130981.2:c.5839C>T NP_001124453.1:p.Gln1947Ter
NM_001130982.1:c.5821C>T NP_001124454.1:p.Gln1941Ter
NM_001130982.2:c.5821C>T NP_001124454.1:p.Gln1941Ter
NM_001130983.1:c.5791C>T NP_001124455.1:p.Gln1931Ter
NM_001130983.2:c.5791C>T NP_001124455.1:p.Gln1931Ter
NM_001130984.1:c.5749C>T NP_001124456.1:p.Gln1917Ter
NM_001130984.2:c.5749C>T NP_001124456.1:p.Gln1917Ter
NM_001130985.1:c.5779C>T NP_001124457.1:p.Gln1927Ter
NM_001130985.2:c.5779C>T NP_001124457.1:p.Gln1927Ter
NM_001130986.1:c.5686C>T NP_001124458.1:p.Gln1896Ter
NM_001130986.2:c.5686C>T NP_001124458.1:p.Gln1896Ter
NM_001130987.1:c.5842C>T NP_001124459.1:p.Gln1948Ter
NM_003494.3:c.5725C>T NP_003485.1:p.Gln1909Ter
ENST00000258104.7:c.5725C>T ENSP00000258104.3:p.Gln1909Ter
ENST00000394120.6:c.5728C>T ENSP00000377678.2:p.Gln1910Ter
ENST00000409366.5:c.5791C>T ENSP00000386512.1:p.Gln1931Ter
ENST00000409582.7:c.5839C>T ENSP00000386547.3:p.Gln1947Ter
ENST00000409651.5:c.5821C>T ENSP00000386683.1:p.Gln1941Ter
ENST00000409744.5:c.5749C>T ENSP00000386285.1:p.Gln1917Ter
ENST00000409762.5:c.5776C>T ENSP00000387137.1:p.Gln1926Ter
ENST00000410020.7:c.5842C>T ENSP00000386881.3:p.Gln1948Ter
ENST00000410041.1:c.5779C>T ENSP00000386617.1:p.Gln1927Ter
ENST00000413539.6:c.5818C>T ENSP00000407046.2:p.Gln1940Ter
ENST00000429174.6:c.5788C>T ENSP00000398305.2:p.Gln1930Ter
ENST00000479049.6:n.2610C>T
ENST00000698057.1:c.3256C>T ENSP00000513536.1:p.Gln1086Ter
ENST00000698058.1:c.2473C>T ENSP00000513537.1:p.Gln825Ter
ENST00000698059.1:c.2581C>T ENSP00000513538.1:p.Gln861Ter
XM_005264584.3:c.5884C>T XP_005264641.1:p.Gln1962Ter
XM_005264584.4:c.5884C>T XP_005264641.1:p.Gln1962Ter
XM_005264585.3:c.5881C>T XP_005264642.1:p.Gln1961Ter
XM_005264585.5:c.5881C>T XP_005264642.1:p.Gln1961Ter