Canonical Allele Identifier: CA488526467
Gene: CYFIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.22969270G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903798C>A , CM000677.2:g.22903798C>A GRCh38
NC_000015.9:g.22969270G>T , CM000677.1:g.22969270G>T GRCh37
NC_000015.8:g.20520711G>T NCBI36
NG_054889.1:g.82109G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2490G>T ENSP00000479802.2:p.Val830=
ENST00000617928.5:c.2496G>T MANE Select ENSP00000481038.1:p.Val832=
ENST00000610365.4:c.2496G>T ENSP00000478779.1:p.Val832=
ENST00000617556.4:c.1203G>T ENSP00000480525.1:p.Val401=
ENST00000617928.4:c.2496G>T ENSP00000481038.1:p.Val832=
ENST00000619290.4:n.889G>T
ENST00000619348.4:n.1643G>T
NM_001033028.1:c.1203G>T NP_001028200.1:p.Val401=
NM_001287810.1:c.2496G>T NP_001274739.1:p.Val832=
NM_014608.3:c.2496G>T NP_055423.1:p.Val832=
XM_011543873.1:c.2895G>T XP_011542175.1:p.Val965=
XM_011543874.1:c.2895G>T XP_011542176.1:p.Val965=
XM_011543875.1:c.2895G>T XP_011542177.1:p.Val965=
XM_011543876.1:c.2490G>T XP_011542178.1:p.Val830=
NM_001033028.2:c.1203G>T NP_001028200.1:p.Val401=
NM_001287810.3:c.2496G>T NP_001274739.1:p.Val832=
NM_001324119.2:c.2598G>T NP_001311048.1:p.Val866=
NM_001324120.2:c.2496G>T NP_001311049.1:p.Val832=
NM_001324122.2:c.816G>T NP_001311051.1:p.Val272=
NM_001324123.2:c.2496G>T NP_001311052.1:p.Val832=
NM_001324124.2:c.2406G>T NP_001311053.1:p.Val802=
NM_001324125.2:c.2130G>T NP_001311054.1:p.Val710=
NM_001324126.2:c.2394G>T NP_001311055.1:p.Val798=
NM_014608.5:c.2496G>T NP_055423.1:p.Val832=
XM_011543873.3:c.2895G>T XP_011542175.1:p.Val965=
XM_011543874.2:c.2895G>T XP_011542176.1:p.Val965=
XM_011543876.3:c.2592G>T XP_011542178.2:p.Val864=
XM_017022023.2:c.2997G>T XP_016877512.1:p.Val999=
XM_017022024.2:c.2895G>T XP_016877513.1:p.Val965=
XM_024449876.1:c.2895G>T XP_024305644.1:p.Val965=
XM_024449877.1:c.2496G>T XP_024305645.1:p.Val832=
NM_014608.6:c.2496G>T MANE Select NP_055423.1:p.Val832=
NM_001287810.4:c.2496G>T NP_001274739.1:p.Val832=
NM_001324122.3:c.816G>T NP_001311051.1:p.Val272=
NM_001324123.3:c.2496G>T NP_001311052.1:p.Val832=
NM_001324124.3:c.2406G>T NP_001311053.1:p.Val802=
NM_001324125.3:c.2130G>T NP_001311054.1:p.Val710=
NM_001324126.3:c.2394G>T NP_001311055.1:p.Val798=
NM_001033028.3:c.1203G>T NP_001028200.1:p.Val401=