Canonical Allele Identifier: CA391334625
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903831G>C , CM000677.2:g.22903831G>C GRCh38
NC_000015.9:g.22969237C>G , CM000677.1:g.22969237C>G GRCh37
NC_000015.8:g.20520678C>G NCBI36
NG_054889.1:g.82076C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2457C>G ENSP00000479802.2:p.Phe819Leu
ENST00000617928.5:c.2463C>G MANE Select ENSP00000481038.1:p.Phe821Leu
ENST00000610365.4:c.2463C>G ENSP00000478779.1:p.Phe821Leu
ENST00000617556.4:c.1170C>G ENSP00000480525.1:p.Phe390Leu
ENST00000617928.4:c.2463C>G ENSP00000481038.1:p.Phe821Leu
ENST00000619290.4:n.856C>G
ENST00000619348.4:n.1610C>G
NM_001033028.1:c.1170C>G NP_001028200.1:p.Phe390Leu
NM_001287810.1:c.2463C>G NP_001274739.1:p.Phe821Leu
NM_014608.3:c.2463C>G NP_055423.1:p.Phe821Leu
XM_011543873.1:c.2862C>G XP_011542175.1:p.Phe954Leu
XM_011543874.1:c.2862C>G XP_011542176.1:p.Phe954Leu
XM_011543875.1:c.2862C>G XP_011542177.1:p.Phe954Leu
XM_011543876.1:c.2457C>G XP_011542178.1:p.Phe819Leu
NM_001033028.2:c.1170C>G NP_001028200.1:p.Phe390Leu
NM_001287810.3:c.2463C>G NP_001274739.1:p.Phe821Leu
NM_001324119.2:c.2565C>G NP_001311048.1:p.Phe855Leu
NM_001324120.2:c.2463C>G NP_001311049.1:p.Phe821Leu
NM_001324122.2:c.783C>G NP_001311051.1:p.Phe261Leu
NM_001324123.2:c.2463C>G NP_001311052.1:p.Phe821Leu
NM_001324124.2:c.2373C>G NP_001311053.1:p.Phe791Leu
NM_001324125.2:c.2097C>G NP_001311054.1:p.Phe699Leu
NM_001324126.2:c.2361C>G NP_001311055.1:p.Phe787Leu
NM_014608.5:c.2463C>G NP_055423.1:p.Phe821Leu
XM_011543873.3:c.2862C>G XP_011542175.1:p.Phe954Leu
XM_011543874.2:c.2862C>G XP_011542176.1:p.Phe954Leu
XM_011543876.3:c.2559C>G XP_011542178.2:p.Phe853Leu
XM_017022023.2:c.2964C>G XP_016877512.1:p.Phe988Leu
XM_017022024.2:c.2862C>G XP_016877513.1:p.Phe954Leu
XM_024449876.1:c.2862C>G XP_024305644.1:p.Phe954Leu
XM_024449877.1:c.2463C>G XP_024305645.1:p.Phe821Leu
NM_014608.6:c.2463C>G MANE Select NP_055423.1:p.Phe821Leu
NM_001287810.4:c.2463C>G NP_001274739.1:p.Phe821Leu
NM_001324122.3:c.783C>G NP_001311051.1:p.Phe261Leu
NM_001324123.3:c.2463C>G NP_001311052.1:p.Phe821Leu
NM_001324124.3:c.2373C>G NP_001311053.1:p.Phe791Leu
NM_001324125.3:c.2097C>G NP_001311054.1:p.Phe699Leu
NM_001324126.3:c.2361C>G NP_001311055.1:p.Phe787Leu
NM_001033028.3:c.1170C>G NP_001028200.1:p.Phe390Leu