Canonical Allele Identifier: CA391334642
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903836C>A , CM000677.2:g.22903836C>A GRCh38
NC_000015.9:g.22969232G>T , CM000677.1:g.22969232G>T GRCh37
NC_000015.8:g.20520673G>T NCBI36
NG_054889.1:g.82071G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2452G>T ENSP00000479802.2:p.Gly818Cys
ENST00000617928.5:c.2458G>T MANE Select ENSP00000481038.1:p.Gly820Cys
ENST00000610365.4:c.2458G>T ENSP00000478779.1:p.Gly820Cys
ENST00000617556.4:c.1165G>T ENSP00000480525.1:p.Gly389Cys
ENST00000617928.4:c.2458G>T ENSP00000481038.1:p.Gly820Cys
ENST00000619290.4:n.851G>T
ENST00000619348.4:n.1605G>T
NM_001033028.1:c.1165G>T NP_001028200.1:p.Gly389Cys
NM_001287810.1:c.2458G>T NP_001274739.1:p.Gly820Cys
NM_014608.3:c.2458G>T NP_055423.1:p.Gly820Cys
XM_011543873.1:c.2857G>T XP_011542175.1:p.Gly953Cys
XM_011543874.1:c.2857G>T XP_011542176.1:p.Gly953Cys
XM_011543875.1:c.2857G>T XP_011542177.1:p.Gly953Cys
XM_011543876.1:c.2452G>T XP_011542178.1:p.Gly818Cys
NM_001033028.2:c.1165G>T NP_001028200.1:p.Gly389Cys
NM_001287810.3:c.2458G>T NP_001274739.1:p.Gly820Cys
NM_001324119.2:c.2560G>T NP_001311048.1:p.Gly854Cys
NM_001324120.2:c.2458G>T NP_001311049.1:p.Gly820Cys
NM_001324122.2:c.778G>T NP_001311051.1:p.Gly260Cys
NM_001324123.2:c.2458G>T NP_001311052.1:p.Gly820Cys
NM_001324124.2:c.2368G>T NP_001311053.1:p.Gly790Cys
NM_001324125.2:c.2092G>T NP_001311054.1:p.Gly698Cys
NM_001324126.2:c.2356G>T NP_001311055.1:p.Gly786Cys
NM_014608.5:c.2458G>T NP_055423.1:p.Gly820Cys
XM_011543873.3:c.2857G>T XP_011542175.1:p.Gly953Cys
XM_011543874.2:c.2857G>T XP_011542176.1:p.Gly953Cys
XM_011543876.3:c.2554G>T XP_011542178.2:p.Gly852Cys
XM_017022023.2:c.2959G>T XP_016877512.1:p.Gly987Cys
XM_017022024.2:c.2857G>T XP_016877513.1:p.Gly953Cys
XM_024449876.1:c.2857G>T XP_024305644.1:p.Gly953Cys
XM_024449877.1:c.2458G>T XP_024305645.1:p.Gly820Cys
NM_014608.6:c.2458G>T MANE Select NP_055423.1:p.Gly820Cys
NM_001287810.4:c.2458G>T NP_001274739.1:p.Gly820Cys
NM_001324122.3:c.778G>T NP_001311051.1:p.Gly260Cys
NM_001324123.3:c.2458G>T NP_001311052.1:p.Gly820Cys
NM_001324124.3:c.2368G>T NP_001311053.1:p.Gly790Cys
NM_001324125.3:c.2092G>T NP_001311054.1:p.Gly698Cys
NM_001324126.3:c.2356G>T NP_001311055.1:p.Gly786Cys
NM_001033028.3:c.1165G>T NP_001028200.1:p.Gly389Cys