Canonical Allele Identifier: CA391334262
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903743A>T , CM000677.2:g.22903743A>T GRCh38
NC_000015.9:g.22969325T>A , CM000677.1:g.22969325T>A GRCh37
NC_000015.8:g.20520766T>A NCBI36
NG_054889.1:g.82164T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2545T>A ENSP00000479802.2:p.Phe849Ile
ENST00000617928.5:c.2551T>A MANE Select ENSP00000481038.1:p.Phe851Ile
ENST00000610365.4:c.2551T>A ENSP00000478779.1:p.Phe851Ile
ENST00000617556.4:c.1258T>A ENSP00000480525.1:p.Phe420Ile
ENST00000617928.4:c.2551T>A ENSP00000481038.1:p.Phe851Ile
ENST00000619348.4:n.1698T>A
NM_001033028.1:c.1258T>A NP_001028200.1:p.Phe420Ile
NM_001287810.1:c.2551T>A NP_001274739.1:p.Phe851Ile
NM_014608.3:c.2551T>A NP_055423.1:p.Phe851Ile
XM_011543873.1:c.2950T>A XP_011542175.1:p.Phe984Ile
XM_011543874.1:c.2950T>A XP_011542176.1:p.Phe984Ile
XM_011543875.1:c.2950T>A XP_011542177.1:p.Phe984Ile
XM_011543876.1:c.2545T>A XP_011542178.1:p.Phe849Ile
NM_001033028.2:c.1258T>A NP_001028200.1:p.Phe420Ile
NM_001287810.3:c.2551T>A NP_001274739.1:p.Phe851Ile
NM_001324119.2:c.2653T>A NP_001311048.1:p.Phe885Ile
NM_001324120.2:c.2551T>A NP_001311049.1:p.Phe851Ile
NM_001324122.2:c.871T>A NP_001311051.1:p.Phe291Ile
NM_001324123.2:c.2551T>A NP_001311052.1:p.Phe851Ile
NM_001324124.2:c.2461T>A NP_001311053.1:p.Phe821Ile
NM_001324125.2:c.2185T>A NP_001311054.1:p.Phe729Ile
NM_001324126.2:c.2449T>A NP_001311055.1:p.Phe817Ile
NM_014608.5:c.2551T>A NP_055423.1:p.Phe851Ile
XM_011543873.3:c.2950T>A XP_011542175.1:p.Phe984Ile
XM_011543874.2:c.2950T>A XP_011542176.1:p.Phe984Ile
XM_011543876.3:c.2647T>A XP_011542178.2:p.Phe883Ile
XM_017022023.2:c.3052T>A XP_016877512.1:p.Phe1018Ile
XM_017022024.2:c.2950T>A XP_016877513.1:p.Phe984Ile
XM_024449876.1:c.2950T>A XP_024305644.1:p.Phe984Ile
XM_024449877.1:c.2551T>A XP_024305645.1:p.Phe851Ile
NM_014608.6:c.2551T>A MANE Select NP_055423.1:p.Phe851Ile
NM_001287810.4:c.2551T>A NP_001274739.1:p.Phe851Ile
NM_001324122.3:c.871T>A NP_001311051.1:p.Phe291Ile
NM_001324123.3:c.2551T>A NP_001311052.1:p.Phe851Ile
NM_001324124.3:c.2461T>A NP_001311053.1:p.Phe821Ile
NM_001324125.3:c.2185T>A NP_001311054.1:p.Phe729Ile
NM_001324126.3:c.2449T>A NP_001311055.1:p.Phe817Ile
NM_001033028.3:c.1258T>A NP_001028200.1:p.Phe420Ile