Canonical Allele Identifier: CA1707667
Community Standard Title: NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71682668C>T , CM000664.2:g.71682668C>T GRCh38
NC_000002.11:g.71909798C>T , CM000664.1:g.71909798C>T GRCh37
NC_000002.10:g.71763306C>T NCBI36
NG_008694.1:g.234046C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.6312C>T MANE Select NP_001124459.1:p.Tyr2104=
ENST00000410020.8:c.6312C>T MANE Select ENSP00000386881.3:p.Tyr2104=
NM_003494.4:c.6195C>T MANE Plus Clinical NP_003485.1:p.Tyr2065=
ENST00000258104.8:c.6195C>T MANE Plus Clinical ENSP00000258104.3:p.Tyr2065=
NM_001130455.1:c.6198C>T NP_001123927.1:p.Tyr2066=
NM_001130455.2:c.6198C>T NP_001123927.1:p.Tyr2066=
NM_001130976.1:c.6153C>T NP_001124448.1:p.Tyr2051=
NM_001130976.2:c.6153C>T NP_001124448.1:p.Tyr2051=
NM_001130977.1:c.6216C>T NP_001124449.1:p.Tyr2072=
NM_001130977.2:c.6216C>T NP_001124449.1:p.Tyr2072=
NM_001130978.1:c.6258C>T NP_001124450.1:p.Tyr2086=
NM_001130978.2:c.6258C>T NP_001124450.1:p.Tyr2086=
NM_001130979.1:c.6288C>T NP_001124451.1:p.Tyr2096=
NM_001130979.2:c.6288C>T NP_001124451.1:p.Tyr2096=
NM_001130980.1:c.6246C>T NP_001124452.1:p.Tyr2082=
NM_001130980.2:c.6246C>T NP_001124452.1:p.Tyr2082=
NM_001130981.1:c.6309C>T NP_001124453.1:p.Tyr2103=
NM_001130981.2:c.6309C>T NP_001124453.1:p.Tyr2103=
NM_001130982.1:c.6291C>T NP_001124454.1:p.Tyr2097=
NM_001130982.2:c.6291C>T NP_001124454.1:p.Tyr2097=
NM_001130983.1:c.6261C>T NP_001124455.1:p.Tyr2087=
NM_001130983.2:c.6261C>T NP_001124455.1:p.Tyr2087=
NM_001130984.1:c.6219C>T NP_001124456.1:p.Tyr2073=
NM_001130984.2:c.6219C>T NP_001124456.1:p.Tyr2073=
NM_001130985.1:c.6249C>T NP_001124457.1:p.Tyr2083=
NM_001130985.2:c.6249C>T NP_001124457.1:p.Tyr2083=
NM_001130986.1:c.6156C>T NP_001124458.1:p.Tyr2052=
NM_001130986.2:c.6156C>T NP_001124458.1:p.Tyr2052=
NM_001130987.1:c.6312C>T NP_001124459.1:p.Tyr2104=
NM_003494.3:c.6195C>T NP_003485.1:p.Tyr2065=
ENST00000258104.7:c.6195C>T ENSP00000258104.3:p.Tyr2065=
ENST00000394120.6:c.6198C>T ENSP00000377678.2:p.Tyr2066=
ENST00000409366.5:c.6261C>T ENSP00000386512.1:p.Tyr2087=
ENST00000409582.7:c.6309C>T ENSP00000386547.3:p.Tyr2103=
ENST00000409651.5:c.6291C>T ENSP00000386683.1:p.Tyr2097=
ENST00000409744.5:c.6219C>T ENSP00000386285.1:p.Tyr2073=
ENST00000409762.5:c.6246C>T ENSP00000387137.1:p.Tyr2082=
ENST00000410020.7:c.6312C>T ENSP00000386881.3:p.Tyr2104=
ENST00000410041.1:c.6249C>T ENSP00000386617.1:p.Tyr2083=
ENST00000413539.6:c.6288C>T ENSP00000407046.2:p.Tyr2096=
ENST00000429174.6:c.6258C>T ENSP00000398305.2:p.Tyr2086=
ENST00000479049.6:n.3080C>T
ENST00000698057.1:c.3726C>T ENSP00000513536.1:p.Tyr1242=
ENST00000698058.1:c.2943C>T ENSP00000513537.1:p.Tyr981=
ENST00000698059.1:c.3051C>T ENSP00000513538.1:p.Tyr1017=
XM_005264584.3:c.6354C>T XP_005264641.1:p.Tyr2118=
XM_005264584.4:c.6354C>T XP_005264641.1:p.Tyr2118=
XM_005264585.3:c.6351C>T XP_005264642.1:p.Tyr2117=
XM_005264585.5:c.6351C>T XP_005264642.1:p.Tyr2117=