Canonical Allele Identifier: CA391334694
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903849G>T , CM000677.2:g.22903849G>T GRCh38
NC_000015.9:g.22969219C>A , CM000677.1:g.22969219C>A GRCh37
NC_000015.8:g.20520660C>A NCBI36
NG_054889.1:g.82058C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2439C>A ENSP00000479802.2:p.Tyr813Ter
ENST00000617928.5:c.2445C>A MANE Select ENSP00000481038.1:p.Tyr815Ter
ENST00000610365.4:c.2445C>A ENSP00000478779.1:p.Tyr815Ter
ENST00000617556.4:c.1152C>A ENSP00000480525.1:p.Tyr384Ter
ENST00000617928.4:c.2445C>A ENSP00000481038.1:p.Tyr815Ter
ENST00000619290.4:n.838C>A
ENST00000619348.4:n.1592C>A
NM_001033028.1:c.1152C>A NP_001028200.1:p.Tyr384Ter
NM_001287810.1:c.2445C>A NP_001274739.1:p.Tyr815Ter
NM_014608.3:c.2445C>A NP_055423.1:p.Tyr815Ter
XM_011543873.1:c.2844C>A XP_011542175.1:p.Tyr948Ter
XM_011543874.1:c.2844C>A XP_011542176.1:p.Tyr948Ter
XM_011543875.1:c.2844C>A XP_011542177.1:p.Tyr948Ter
XM_011543876.1:c.2439C>A XP_011542178.1:p.Tyr813Ter
NM_001033028.2:c.1152C>A NP_001028200.1:p.Tyr384Ter
NM_001287810.3:c.2445C>A NP_001274739.1:p.Tyr815Ter
NM_001324119.2:c.2547C>A NP_001311048.1:p.Tyr849Ter
NM_001324120.2:c.2445C>A NP_001311049.1:p.Tyr815Ter
NM_001324122.2:c.765C>A NP_001311051.1:p.Tyr255Ter
NM_001324123.2:c.2445C>A NP_001311052.1:p.Tyr815Ter
NM_001324124.2:c.2355C>A NP_001311053.1:p.Tyr785Ter
NM_001324125.2:c.2079C>A NP_001311054.1:p.Tyr693Ter
NM_001324126.2:c.2343C>A NP_001311055.1:p.Tyr781Ter
NM_014608.5:c.2445C>A NP_055423.1:p.Tyr815Ter
XM_011543873.3:c.2844C>A XP_011542175.1:p.Tyr948Ter
XM_011543874.2:c.2844C>A XP_011542176.1:p.Tyr948Ter
XM_011543876.3:c.2541C>A XP_011542178.2:p.Tyr847Ter
XM_017022023.2:c.2946C>A XP_016877512.1:p.Tyr982Ter
XM_017022024.2:c.2844C>A XP_016877513.1:p.Tyr948Ter
XM_024449876.1:c.2844C>A XP_024305644.1:p.Tyr948Ter
XM_024449877.1:c.2445C>A XP_024305645.1:p.Tyr815Ter
NM_014608.6:c.2445C>A MANE Select NP_055423.1:p.Tyr815Ter
NM_001287810.4:c.2445C>A NP_001274739.1:p.Tyr815Ter
NM_001324122.3:c.765C>A NP_001311051.1:p.Tyr255Ter
NM_001324123.3:c.2445C>A NP_001311052.1:p.Tyr815Ter
NM_001324124.3:c.2355C>A NP_001311053.1:p.Tyr785Ter
NM_001324125.3:c.2079C>A NP_001311054.1:p.Tyr693Ter
NM_001324126.3:c.2343C>A NP_001311055.1:p.Tyr781Ter
NM_001033028.3:c.1152C>A NP_001028200.1:p.Tyr384Ter