Canonical Allele Identifier: CA347226442
Community Standard Title: NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71679162C>T , CM000664.2:g.71679162C>T GRCh38
NC_000002.11:g.71906292C>T , CM000664.1:g.71906292C>T GRCh37
NC_000002.10:g.71759800C>T NCBI36
NG_008694.1:g.230540C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5990C>T MANE Select NP_001124459.1:p.Ser1997Phe
ENST00000410020.8:c.5990C>T MANE Select ENSP00000386881.3:p.Ser1997Phe
NM_003494.4:c.5873C>T MANE Plus Clinical NP_003485.1:p.Ser1958Phe
ENST00000258104.8:c.5873C>T MANE Plus Clinical ENSP00000258104.3:p.Ser1958Phe
NM_001130455.1:c.5876C>T NP_001123927.1:p.Ser1959Phe
NM_001130455.2:c.5876C>T NP_001123927.1:p.Ser1959Phe
NM_001130976.1:c.5831C>T NP_001124448.1:p.Ser1944Phe
NM_001130976.2:c.5831C>T NP_001124448.1:p.Ser1944Phe
NM_001130977.1:c.5894C>T NP_001124449.1:p.Ser1965Phe
NM_001130977.2:c.5894C>T NP_001124449.1:p.Ser1965Phe
NM_001130978.1:c.5936C>T NP_001124450.1:p.Ser1979Phe
NM_001130978.2:c.5936C>T NP_001124450.1:p.Ser1979Phe
NM_001130979.1:c.5966C>T NP_001124451.1:p.Ser1989Phe
NM_001130979.2:c.5966C>T NP_001124451.1:p.Ser1989Phe
NM_001130980.1:c.5924C>T NP_001124452.1:p.Ser1975Phe
NM_001130980.2:c.5924C>T NP_001124452.1:p.Ser1975Phe
NM_001130981.1:c.5987C>T NP_001124453.1:p.Ser1996Phe
NM_001130981.2:c.5987C>T NP_001124453.1:p.Ser1996Phe
NM_001130982.1:c.5969C>T NP_001124454.1:p.Ser1990Phe
NM_001130982.2:c.5969C>T NP_001124454.1:p.Ser1990Phe
NM_001130983.1:c.5939C>T NP_001124455.1:p.Ser1980Phe
NM_001130983.2:c.5939C>T NP_001124455.1:p.Ser1980Phe
NM_001130984.1:c.5897C>T NP_001124456.1:p.Ser1966Phe
NM_001130984.2:c.5897C>T NP_001124456.1:p.Ser1966Phe
NM_001130985.1:c.5927C>T NP_001124457.1:p.Ser1976Phe
NM_001130985.2:c.5927C>T NP_001124457.1:p.Ser1976Phe
NM_001130986.1:c.5834C>T NP_001124458.1:p.Ser1945Phe
NM_001130986.2:c.5834C>T NP_001124458.1:p.Ser1945Phe
NM_001130987.1:c.5990C>T NP_001124459.1:p.Ser1997Phe
NM_003494.3:c.5873C>T NP_003485.1:p.Ser1958Phe
ENST00000258104.7:c.5873C>T ENSP00000258104.3:p.Ser1958Phe
ENST00000394120.6:c.5876C>T ENSP00000377678.2:p.Ser1959Phe
ENST00000409366.5:c.5939C>T ENSP00000386512.1:p.Ser1980Phe
ENST00000409582.7:c.5987C>T ENSP00000386547.3:p.Ser1996Phe
ENST00000409651.5:c.5969C>T ENSP00000386683.1:p.Ser1990Phe
ENST00000409744.5:c.5897C>T ENSP00000386285.1:p.Ser1966Phe
ENST00000409762.5:c.5924C>T ENSP00000387137.1:p.Ser1975Phe
ENST00000410020.7:c.5990C>T ENSP00000386881.3:p.Ser1997Phe
ENST00000410041.1:c.5927C>T ENSP00000386617.1:p.Ser1976Phe
ENST00000413539.6:c.5966C>T ENSP00000407046.2:p.Ser1989Phe
ENST00000429174.6:c.5936C>T ENSP00000398305.2:p.Ser1979Phe
ENST00000479049.6:n.2758C>T
ENST00000698057.1:c.3404C>T ENSP00000513536.1:p.Ser1135Phe
ENST00000698058.1:c.2621C>T ENSP00000513537.1:p.Ser874Phe
ENST00000698059.1:c.2729C>T ENSP00000513538.1:p.Ser910Phe
XM_005264584.3:c.6032C>T XP_005264641.1:p.Ser2011Phe
XM_005264584.4:c.6032C>T XP_005264641.1:p.Ser2011Phe
XM_005264585.3:c.6029C>T XP_005264642.1:p.Ser2010Phe
XM_005264585.5:c.6029C>T XP_005264642.1:p.Ser2010Phe