Canonical Allele Identifier: CA488526438
Gene: CYFIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.22969318C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903750G>A , CM000677.2:g.22903750G>A GRCh38
NC_000015.9:g.22969318C>T , CM000677.1:g.22969318C>T GRCh37
NC_000015.8:g.20520759C>T NCBI36
NG_054889.1:g.82157C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2538C>T ENSP00000479802.2:p.Asn846=
ENST00000617928.5:c.2544C>T MANE Select ENSP00000481038.1:p.Asn848=
ENST00000610365.4:c.2544C>T ENSP00000478779.1:p.Asn848=
ENST00000617556.4:c.1251C>T ENSP00000480525.1:p.Asn417=
ENST00000617928.4:c.2544C>T ENSP00000481038.1:p.Asn848=
ENST00000619348.4:n.1691C>T
NM_001033028.1:c.1251C>T NP_001028200.1:p.Asn417=
NM_001287810.1:c.2544C>T NP_001274739.1:p.Asn848=
NM_014608.3:c.2544C>T NP_055423.1:p.Asn848=
XM_011543873.1:c.2943C>T XP_011542175.1:p.Asn981=
XM_011543874.1:c.2943C>T XP_011542176.1:p.Asn981=
XM_011543875.1:c.2943C>T XP_011542177.1:p.Asn981=
XM_011543876.1:c.2538C>T XP_011542178.1:p.Asn846=
NM_001033028.2:c.1251C>T NP_001028200.1:p.Asn417=
NM_001287810.3:c.2544C>T NP_001274739.1:p.Asn848=
NM_001324119.2:c.2646C>T NP_001311048.1:p.Asn882=
NM_001324120.2:c.2544C>T NP_001311049.1:p.Asn848=
NM_001324122.2:c.864C>T NP_001311051.1:p.Asn288=
NM_001324123.2:c.2544C>T NP_001311052.1:p.Asn848=
NM_001324124.2:c.2454C>T NP_001311053.1:p.Asn818=
NM_001324125.2:c.2178C>T NP_001311054.1:p.Asn726=
NM_001324126.2:c.2442C>T NP_001311055.1:p.Asn814=
NM_014608.5:c.2544C>T NP_055423.1:p.Asn848=
XM_011543873.3:c.2943C>T XP_011542175.1:p.Asn981=
XM_011543874.2:c.2943C>T XP_011542176.1:p.Asn981=
XM_011543876.3:c.2640C>T XP_011542178.2:p.Asn880=
XM_017022023.2:c.3045C>T XP_016877512.1:p.Asn1015=
XM_017022024.2:c.2943C>T XP_016877513.1:p.Asn981=
XM_024449876.1:c.2943C>T XP_024305644.1:p.Asn981=
XM_024449877.1:c.2544C>T XP_024305645.1:p.Asn848=
NM_014608.6:c.2544C>T MANE Select NP_055423.1:p.Asn848=
NM_001287810.4:c.2544C>T NP_001274739.1:p.Asn848=
NM_001324122.3:c.864C>T NP_001311051.1:p.Asn288=
NM_001324123.3:c.2544C>T NP_001311052.1:p.Asn848=
NM_001324124.3:c.2454C>T NP_001311053.1:p.Asn818=
NM_001324125.3:c.2178C>T NP_001311054.1:p.Asn726=
NM_001324126.3:c.2442C>T NP_001311055.1:p.Asn814=
NM_001033028.3:c.1251C>T NP_001028200.1:p.Asn417=