Canonical Allele Identifier: CA391334587
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903822C>A , CM000677.2:g.22903822C>A GRCh38
NC_000015.9:g.22969246G>T , CM000677.1:g.22969246G>T GRCh37
NC_000015.8:g.20520687G>T NCBI36
NG_054889.1:g.82085G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2466G>T ENSP00000479802.2:p.Met822Ile
ENST00000617928.5:c.2472G>T MANE Select ENSP00000481038.1:p.Met824Ile
ENST00000610365.4:c.2472G>T ENSP00000478779.1:p.Met824Ile
ENST00000617556.4:c.1179G>T ENSP00000480525.1:p.Met393Ile
ENST00000617928.4:c.2472G>T ENSP00000481038.1:p.Met824Ile
ENST00000619290.4:n.865G>T
ENST00000619348.4:n.1619G>T
NM_001033028.1:c.1179G>T NP_001028200.1:p.Met393Ile
NM_001287810.1:c.2472G>T NP_001274739.1:p.Met824Ile
NM_014608.3:c.2472G>T NP_055423.1:p.Met824Ile
XM_011543873.1:c.2871G>T XP_011542175.1:p.Met957Ile
XM_011543874.1:c.2871G>T XP_011542176.1:p.Met957Ile
XM_011543875.1:c.2871G>T XP_011542177.1:p.Met957Ile
XM_011543876.1:c.2466G>T XP_011542178.1:p.Met822Ile
NM_001033028.2:c.1179G>T NP_001028200.1:p.Met393Ile
NM_001287810.3:c.2472G>T NP_001274739.1:p.Met824Ile
NM_001324119.2:c.2574G>T NP_001311048.1:p.Met858Ile
NM_001324120.2:c.2472G>T NP_001311049.1:p.Met824Ile
NM_001324122.2:c.792G>T NP_001311051.1:p.Met264Ile
NM_001324123.2:c.2472G>T NP_001311052.1:p.Met824Ile
NM_001324124.2:c.2382G>T NP_001311053.1:p.Met794Ile
NM_001324125.2:c.2106G>T NP_001311054.1:p.Met702Ile
NM_001324126.2:c.2370G>T NP_001311055.1:p.Met790Ile
NM_014608.5:c.2472G>T NP_055423.1:p.Met824Ile
XM_011543873.3:c.2871G>T XP_011542175.1:p.Met957Ile
XM_011543874.2:c.2871G>T XP_011542176.1:p.Met957Ile
XM_011543876.3:c.2568G>T XP_011542178.2:p.Met856Ile
XM_017022023.2:c.2973G>T XP_016877512.1:p.Met991Ile
XM_017022024.2:c.2871G>T XP_016877513.1:p.Met957Ile
XM_024449876.1:c.2871G>T XP_024305644.1:p.Met957Ile
XM_024449877.1:c.2472G>T XP_024305645.1:p.Met824Ile
NM_014608.6:c.2472G>T MANE Select NP_055423.1:p.Met824Ile
NM_001287810.4:c.2472G>T NP_001274739.1:p.Met824Ile
NM_001324122.3:c.792G>T NP_001311051.1:p.Met264Ile
NM_001324123.3:c.2472G>T NP_001311052.1:p.Met824Ile
NM_001324124.3:c.2382G>T NP_001311053.1:p.Met794Ile
NM_001324125.3:c.2106G>T NP_001311054.1:p.Met702Ile
NM_001324126.3:c.2370G>T NP_001311055.1:p.Met790Ile
NM_001033028.3:c.1179G>T NP_001028200.1:p.Met393Ile