Canonical Allele Identifier: CA391334370
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903767C>A , CM000677.2:g.22903767C>A GRCh38
NC_000015.9:g.22969301G>T , CM000677.1:g.22969301G>T GRCh37
NC_000015.8:g.20520742G>T NCBI36
NG_054889.1:g.82140G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2521G>T ENSP00000479802.2:p.Val841Phe
ENST00000617928.5:c.2527G>T MANE Select ENSP00000481038.1:p.Val843Phe
ENST00000610365.4:c.2527G>T ENSP00000478779.1:p.Val843Phe
ENST00000617556.4:c.1234G>T ENSP00000480525.1:p.Val412Phe
ENST00000617928.4:c.2527G>T ENSP00000481038.1:p.Val843Phe
ENST00000619290.4:n.920G>T
ENST00000619348.4:n.1674G>T
NM_001033028.1:c.1234G>T NP_001028200.1:p.Val412Phe
NM_001287810.1:c.2527G>T NP_001274739.1:p.Val843Phe
NM_014608.3:c.2527G>T NP_055423.1:p.Val843Phe
XM_011543873.1:c.2926G>T XP_011542175.1:p.Val976Phe
XM_011543874.1:c.2926G>T XP_011542176.1:p.Val976Phe
XM_011543875.1:c.2926G>T XP_011542177.1:p.Val976Phe
XM_011543876.1:c.2521G>T XP_011542178.1:p.Val841Phe
NM_001033028.2:c.1234G>T NP_001028200.1:p.Val412Phe
NM_001287810.3:c.2527G>T NP_001274739.1:p.Val843Phe
NM_001324119.2:c.2629G>T NP_001311048.1:p.Val877Phe
NM_001324120.2:c.2527G>T NP_001311049.1:p.Val843Phe
NM_001324122.2:c.847G>T NP_001311051.1:p.Val283Phe
NM_001324123.2:c.2527G>T NP_001311052.1:p.Val843Phe
NM_001324124.2:c.2437G>T NP_001311053.1:p.Val813Phe
NM_001324125.2:c.2161G>T NP_001311054.1:p.Val721Phe
NM_001324126.2:c.2425G>T NP_001311055.1:p.Val809Phe
NM_014608.5:c.2527G>T NP_055423.1:p.Val843Phe
XM_011543873.3:c.2926G>T XP_011542175.1:p.Val976Phe
XM_011543874.2:c.2926G>T XP_011542176.1:p.Val976Phe
XM_011543876.3:c.2623G>T XP_011542178.2:p.Val875Phe
XM_017022023.2:c.3028G>T XP_016877512.1:p.Val1010Phe
XM_017022024.2:c.2926G>T XP_016877513.1:p.Val976Phe
XM_024449876.1:c.2926G>T XP_024305644.1:p.Val976Phe
XM_024449877.1:c.2527G>T XP_024305645.1:p.Val843Phe
NM_014608.6:c.2527G>T MANE Select NP_055423.1:p.Val843Phe
NM_001287810.4:c.2527G>T NP_001274739.1:p.Val843Phe
NM_001324122.3:c.847G>T NP_001311051.1:p.Val283Phe
NM_001324123.3:c.2527G>T NP_001311052.1:p.Val843Phe
NM_001324124.3:c.2437G>T NP_001311053.1:p.Val813Phe
NM_001324125.3:c.2161G>T NP_001311054.1:p.Val721Phe
NM_001324126.3:c.2425G>T NP_001311055.1:p.Val809Phe
NM_001033028.3:c.1234G>T NP_001028200.1:p.Val412Phe