Canonical Allele Identifier: CA391334258
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903742A>T , CM000677.2:g.22903742A>T GRCh38
NC_000015.9:g.22969326T>A , CM000677.1:g.22969326T>A GRCh37
NC_000015.8:g.20520767T>A NCBI36
NG_054889.1:g.82165T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2546T>A ENSP00000479802.2:p.Phe849Tyr
ENST00000617928.5:c.2552T>A MANE Select ENSP00000481038.1:p.Phe851Tyr
ENST00000610365.4:c.2552T>A ENSP00000478779.1:p.Phe851Tyr
ENST00000617556.4:c.1259T>A ENSP00000480525.1:p.Phe420Tyr
ENST00000617928.4:c.2552T>A ENSP00000481038.1:p.Phe851Tyr
ENST00000619348.4:n.1699T>A
NM_001033028.1:c.1259T>A NP_001028200.1:p.Phe420Tyr
NM_001287810.1:c.2552T>A NP_001274739.1:p.Phe851Tyr
NM_014608.3:c.2552T>A NP_055423.1:p.Phe851Tyr
XM_011543873.1:c.2951T>A XP_011542175.1:p.Phe984Tyr
XM_011543874.1:c.2951T>A XP_011542176.1:p.Phe984Tyr
XM_011543875.1:c.2951T>A XP_011542177.1:p.Phe984Tyr
XM_011543876.1:c.2546T>A XP_011542178.1:p.Phe849Tyr
NM_001033028.2:c.1259T>A NP_001028200.1:p.Phe420Tyr
NM_001287810.3:c.2552T>A NP_001274739.1:p.Phe851Tyr
NM_001324119.2:c.2654T>A NP_001311048.1:p.Phe885Tyr
NM_001324120.2:c.2552T>A NP_001311049.1:p.Phe851Tyr
NM_001324122.2:c.872T>A NP_001311051.1:p.Phe291Tyr
NM_001324123.2:c.2552T>A NP_001311052.1:p.Phe851Tyr
NM_001324124.2:c.2462T>A NP_001311053.1:p.Phe821Tyr
NM_001324125.2:c.2186T>A NP_001311054.1:p.Phe729Tyr
NM_001324126.2:c.2450T>A NP_001311055.1:p.Phe817Tyr
NM_014608.5:c.2552T>A NP_055423.1:p.Phe851Tyr
XM_011543873.3:c.2951T>A XP_011542175.1:p.Phe984Tyr
XM_011543874.2:c.2951T>A XP_011542176.1:p.Phe984Tyr
XM_011543876.3:c.2648T>A XP_011542178.2:p.Phe883Tyr
XM_017022023.2:c.3053T>A XP_016877512.1:p.Phe1018Tyr
XM_017022024.2:c.2951T>A XP_016877513.1:p.Phe984Tyr
XM_024449876.1:c.2951T>A XP_024305644.1:p.Phe984Tyr
XM_024449877.1:c.2552T>A XP_024305645.1:p.Phe851Tyr
NM_014608.6:c.2552T>A MANE Select NP_055423.1:p.Phe851Tyr
NM_001287810.4:c.2552T>A NP_001274739.1:p.Phe851Tyr
NM_001324122.3:c.872T>A NP_001311051.1:p.Phe291Tyr
NM_001324123.3:c.2552T>A NP_001311052.1:p.Phe851Tyr
NM_001324124.3:c.2462T>A NP_001311053.1:p.Phe821Tyr
NM_001324125.3:c.2186T>A NP_001311054.1:p.Phe729Tyr
NM_001324126.3:c.2450T>A NP_001311055.1:p.Phe817Tyr
NM_001033028.3:c.1259T>A NP_001028200.1:p.Phe420Tyr