Canonical Allele Identifier: CA488526476
Gene: CYFIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.22969250C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903818G>T , CM000677.2:g.22903818G>T GRCh38
NC_000015.9:g.22969250C>A , CM000677.1:g.22969250C>A GRCh37
NC_000015.8:g.20520691C>A NCBI36
NG_054889.1:g.82089C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2470C>A ENSP00000479802.2:p.Arg824=
ENST00000617928.5:c.2476C>A MANE Select ENSP00000481038.1:p.Arg826=
ENST00000610365.4:c.2476C>A ENSP00000478779.1:p.Arg826=
ENST00000617556.4:c.1183C>A ENSP00000480525.1:p.Arg395=
ENST00000617928.4:c.2476C>A ENSP00000481038.1:p.Arg826=
ENST00000619290.4:n.869C>A
ENST00000619348.4:n.1623C>A
NM_001033028.1:c.1183C>A NP_001028200.1:p.Arg395=
NM_001287810.1:c.2476C>A NP_001274739.1:p.Arg826=
NM_014608.3:c.2476C>A NP_055423.1:p.Arg826=
XM_011543873.1:c.2875C>A XP_011542175.1:p.Arg959=
XM_011543874.1:c.2875C>A XP_011542176.1:p.Arg959=
XM_011543875.1:c.2875C>A XP_011542177.1:p.Arg959=
XM_011543876.1:c.2470C>A XP_011542178.1:p.Arg824=
NM_001033028.2:c.1183C>A NP_001028200.1:p.Arg395=
NM_001287810.3:c.2476C>A NP_001274739.1:p.Arg826=
NM_001324119.2:c.2578C>A NP_001311048.1:p.Arg860=
NM_001324120.2:c.2476C>A NP_001311049.1:p.Arg826=
NM_001324122.2:c.796C>A NP_001311051.1:p.Arg266=
NM_001324123.2:c.2476C>A NP_001311052.1:p.Arg826=
NM_001324124.2:c.2386C>A NP_001311053.1:p.Arg796=
NM_001324125.2:c.2110C>A NP_001311054.1:p.Arg704=
NM_001324126.2:c.2374C>A NP_001311055.1:p.Arg792=
NM_014608.5:c.2476C>A NP_055423.1:p.Arg826=
XM_011543873.3:c.2875C>A XP_011542175.1:p.Arg959=
XM_011543874.2:c.2875C>A XP_011542176.1:p.Arg959=
XM_011543876.3:c.2572C>A XP_011542178.2:p.Arg858=
XM_017022023.2:c.2977C>A XP_016877512.1:p.Arg993=
XM_017022024.2:c.2875C>A XP_016877513.1:p.Arg959=
XM_024449876.1:c.2875C>A XP_024305644.1:p.Arg959=
XM_024449877.1:c.2476C>A XP_024305645.1:p.Arg826=
NM_014608.6:c.2476C>A MANE Select NP_055423.1:p.Arg826=
NM_001287810.4:c.2476C>A NP_001274739.1:p.Arg826=
NM_001324122.3:c.796C>A NP_001311051.1:p.Arg266=
NM_001324123.3:c.2476C>A NP_001311052.1:p.Arg826=
NM_001324124.3:c.2386C>A NP_001311053.1:p.Arg796=
NM_001324125.3:c.2110C>A NP_001311054.1:p.Arg704=
NM_001324126.3:c.2374C>A NP_001311055.1:p.Arg792=
NM_001033028.3:c.1183C>A NP_001028200.1:p.Arg395=