Canonical Allele Identifier: CA391334180
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903722T>C , CM000677.2:g.22903722T>C GRCh38
NC_000015.9:g.22969346A>G , CM000677.1:g.22969346A>G GRCh37
NC_000015.8:g.20520787A>G NCBI36
NG_054889.1:g.82185A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2566A>G ENSP00000479802.2:p.Asn856Asp
ENST00000617928.5:c.2572A>G MANE Select ENSP00000481038.1:p.Asn858Asp
ENST00000610365.4:c.2572A>G ENSP00000478779.1:p.Asn858Asp
ENST00000617556.4:c.1279A>G ENSP00000480525.1:p.Asn427Asp
ENST00000617928.4:c.2572A>G ENSP00000481038.1:p.Asn858Asp
ENST00000619348.4:n.1719A>G
NM_001033028.1:c.1279A>G NP_001028200.1:p.Asn427Asp
NM_001287810.1:c.2572A>G NP_001274739.1:p.Asn858Asp
NM_014608.3:c.2572A>G NP_055423.1:p.Asn858Asp
XM_011543873.1:c.2971A>G XP_011542175.1:p.Asn991Asp
XM_011543874.1:c.2971A>G XP_011542176.1:p.Asn991Asp
XM_011543875.1:c.2971A>G XP_011542177.1:p.Asn991Asp
XM_011543876.1:c.2566A>G XP_011542178.1:p.Asn856Asp
NM_001033028.2:c.1279A>G NP_001028200.1:p.Asn427Asp
NM_001287810.3:c.2572A>G NP_001274739.1:p.Asn858Asp
NM_001324119.2:c.2674A>G NP_001311048.1:p.Asn892Asp
NM_001324120.2:c.2572A>G NP_001311049.1:p.Asn858Asp
NM_001324122.2:c.892A>G NP_001311051.1:p.Asn298Asp
NM_001324123.2:c.2572A>G NP_001311052.1:p.Asn858Asp
NM_001324124.2:c.2482A>G NP_001311053.1:p.Asn828Asp
NM_001324125.2:c.2206A>G NP_001311054.1:p.Asn736Asp
NM_001324126.2:c.2470A>G NP_001311055.1:p.Asn824Asp
NM_014608.5:c.2572A>G NP_055423.1:p.Asn858Asp
XM_011543873.3:c.2971A>G XP_011542175.1:p.Asn991Asp
XM_011543874.2:c.2971A>G XP_011542176.1:p.Asn991Asp
XM_011543876.3:c.2668A>G XP_011542178.2:p.Asn890Asp
XM_017022023.2:c.3073A>G XP_016877512.1:p.Asn1025Asp
XM_017022024.2:c.2971A>G XP_016877513.1:p.Asn991Asp
XM_024449876.1:c.2971A>G XP_024305644.1:p.Asn991Asp
XM_024449877.1:c.2572A>G XP_024305645.1:p.Asn858Asp
NM_014608.6:c.2572A>G MANE Select NP_055423.1:p.Asn858Asp
NM_001287810.4:c.2572A>G NP_001274739.1:p.Asn858Asp
NM_001324122.3:c.892A>G NP_001311051.1:p.Asn298Asp
NM_001324123.3:c.2572A>G NP_001311052.1:p.Asn858Asp
NM_001324124.3:c.2482A>G NP_001311053.1:p.Asn828Asp
NM_001324125.3:c.2206A>G NP_001311054.1:p.Asn736Asp
NM_001324126.3:c.2470A>G NP_001311055.1:p.Asn824Asp
NM_001033028.3:c.1279A>G NP_001028200.1:p.Asn427Asp