Canonical Allele Identifier: CA391334120
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903706C>G , CM000677.2:g.22903706C>G GRCh38
NC_000015.9:g.22969362G>C , CM000677.1:g.22969362G>C GRCh37
NC_000015.8:g.20520803G>C NCBI36
NG_054889.1:g.82201G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2582G>C ENSP00000479802.2:p.Arg861Pro
ENST00000617928.5:c.2588G>C MANE Select ENSP00000481038.1:p.Arg863Pro
ENST00000610365.4:c.2588G>C ENSP00000478779.1:p.Arg863Pro
ENST00000617556.4:c.1295G>C ENSP00000480525.1:p.Arg432Pro
ENST00000617928.4:c.2588G>C ENSP00000481038.1:p.Arg863Pro
ENST00000619348.4:n.1735G>C
NM_001033028.1:c.1295G>C NP_001028200.1:p.Arg432Pro
NM_001287810.1:c.2588G>C NP_001274739.1:p.Arg863Pro
NM_014608.3:c.2588G>C NP_055423.1:p.Arg863Pro
XM_011543873.1:c.2987G>C XP_011542175.1:p.Arg996Pro
XM_011543874.1:c.2987G>C XP_011542176.1:p.Arg996Pro
XM_011543875.1:c.2987G>C XP_011542177.1:p.Arg996Pro
XM_011543876.1:c.2582G>C XP_011542178.1:p.Arg861Pro
NM_001033028.2:c.1295G>C NP_001028200.1:p.Arg432Pro
NM_001287810.3:c.2588G>C NP_001274739.1:p.Arg863Pro
NM_001324119.2:c.2690G>C NP_001311048.1:p.Arg897Pro
NM_001324120.2:c.2588G>C NP_001311049.1:p.Arg863Pro
NM_001324122.2:c.908G>C NP_001311051.1:p.Arg303Pro
NM_001324123.2:c.2588G>C NP_001311052.1:p.Arg863Pro
NM_001324124.2:c.2498G>C NP_001311053.1:p.Arg833Pro
NM_001324125.2:c.2222G>C NP_001311054.1:p.Arg741Pro
NM_001324126.2:c.2486G>C NP_001311055.1:p.Arg829Pro
NM_014608.5:c.2588G>C NP_055423.1:p.Arg863Pro
XM_011543873.3:c.2987G>C XP_011542175.1:p.Arg996Pro
XM_011543874.2:c.2987G>C XP_011542176.1:p.Arg996Pro
XM_011543876.3:c.2684G>C XP_011542178.2:p.Arg895Pro
XM_017022023.2:c.3089G>C XP_016877512.1:p.Arg1030Pro
XM_017022024.2:c.2987G>C XP_016877513.1:p.Arg996Pro
XM_024449876.1:c.2987G>C XP_024305644.1:p.Arg996Pro
XM_024449877.1:c.2588G>C XP_024305645.1:p.Arg863Pro
NM_014608.6:c.2588G>C MANE Select NP_055423.1:p.Arg863Pro
NM_001287810.4:c.2588G>C NP_001274739.1:p.Arg863Pro
NM_001324122.3:c.908G>C NP_001311051.1:p.Arg303Pro
NM_001324123.3:c.2588G>C NP_001311052.1:p.Arg863Pro
NM_001324124.3:c.2498G>C NP_001311053.1:p.Arg833Pro
NM_001324125.3:c.2222G>C NP_001311054.1:p.Arg741Pro
NM_001324126.3:c.2486G>C NP_001311055.1:p.Arg829Pro
NM_001033028.3:c.1295G>C NP_001028200.1:p.Arg432Pro