Canonical Allele Identifier: CA391334512
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903803T>G , CM000677.2:g.22903803T>G GRCh38
NC_000015.9:g.22969265A>C , CM000677.1:g.22969265A>C GRCh37
NC_000015.8:g.20520706A>C NCBI36
NG_054889.1:g.82104A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2485A>C ENSP00000479802.2:p.Asn829His
ENST00000617928.5:c.2491A>C MANE Select ENSP00000481038.1:p.Asn831His
ENST00000610365.4:c.2491A>C ENSP00000478779.1:p.Asn831His
ENST00000617556.4:c.1198A>C ENSP00000480525.1:p.Asn400His
ENST00000617928.4:c.2491A>C ENSP00000481038.1:p.Asn831His
ENST00000619290.4:n.884A>C
ENST00000619348.4:n.1638A>C
NM_001033028.1:c.1198A>C NP_001028200.1:p.Asn400His
NM_001287810.1:c.2491A>C NP_001274739.1:p.Asn831His
NM_014608.3:c.2491A>C NP_055423.1:p.Asn831His
XM_011543873.1:c.2890A>C XP_011542175.1:p.Asn964His
XM_011543874.1:c.2890A>C XP_011542176.1:p.Asn964His
XM_011543875.1:c.2890A>C XP_011542177.1:p.Asn964His
XM_011543876.1:c.2485A>C XP_011542178.1:p.Asn829His
NM_001033028.2:c.1198A>C NP_001028200.1:p.Asn400His
NM_001287810.3:c.2491A>C NP_001274739.1:p.Asn831His
NM_001324119.2:c.2593A>C NP_001311048.1:p.Asn865His
NM_001324120.2:c.2491A>C NP_001311049.1:p.Asn831His
NM_001324122.2:c.811A>C NP_001311051.1:p.Asn271His
NM_001324123.2:c.2491A>C NP_001311052.1:p.Asn831His
NM_001324124.2:c.2401A>C NP_001311053.1:p.Asn801His
NM_001324125.2:c.2125A>C NP_001311054.1:p.Asn709His
NM_001324126.2:c.2389A>C NP_001311055.1:p.Asn797His
NM_014608.5:c.2491A>C NP_055423.1:p.Asn831His
XM_011543873.3:c.2890A>C XP_011542175.1:p.Asn964His
XM_011543874.2:c.2890A>C XP_011542176.1:p.Asn964His
XM_011543876.3:c.2587A>C XP_011542178.2:p.Asn863His
XM_017022023.2:c.2992A>C XP_016877512.1:p.Asn998His
XM_017022024.2:c.2890A>C XP_016877513.1:p.Asn964His
XM_024449876.1:c.2890A>C XP_024305644.1:p.Asn964His
XM_024449877.1:c.2491A>C XP_024305645.1:p.Asn831His
NM_014608.6:c.2491A>C MANE Select NP_055423.1:p.Asn831His
NM_001287810.4:c.2491A>C NP_001274739.1:p.Asn831His
NM_001324122.3:c.811A>C NP_001311051.1:p.Asn271His
NM_001324123.3:c.2491A>C NP_001311052.1:p.Asn831His
NM_001324124.3:c.2401A>C NP_001311053.1:p.Asn801His
NM_001324125.3:c.2125A>C NP_001311054.1:p.Asn709His
NM_001324126.3:c.2389A>C NP_001311055.1:p.Asn797His
NM_001033028.3:c.1198A>C NP_001028200.1:p.Asn400His