Canonical Allele Identifier: CA391334403
Gene: CYFIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903775G>A , CM000677.2:g.22903775G>A GRCh38
NC_000015.9:g.22969293C>T , CM000677.1:g.22969293C>T GRCh37
NC_000015.8:g.20520734C>T NCBI36
NG_054889.1:g.82132C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2513C>T ENSP00000479802.2:p.Thr838Ile
ENST00000617928.5:c.2519C>T MANE Select ENSP00000481038.1:p.Thr840Ile
ENST00000610365.4:c.2519C>T ENSP00000478779.1:p.Thr840Ile
ENST00000617556.4:c.1226C>T ENSP00000480525.1:p.Thr409Ile
ENST00000617928.4:c.2519C>T ENSP00000481038.1:p.Thr840Ile
ENST00000619290.4:n.912C>T
ENST00000619348.4:n.1666C>T
NM_001033028.1:c.1226C>T NP_001028200.1:p.Thr409Ile
NM_001287810.1:c.2519C>T NP_001274739.1:p.Thr840Ile
NM_014608.3:c.2519C>T NP_055423.1:p.Thr840Ile
XM_011543873.1:c.2918C>T XP_011542175.1:p.Thr973Ile
XM_011543874.1:c.2918C>T XP_011542176.1:p.Thr973Ile
XM_011543875.1:c.2918C>T XP_011542177.1:p.Thr973Ile
XM_011543876.1:c.2513C>T XP_011542178.1:p.Thr838Ile
NM_001033028.2:c.1226C>T NP_001028200.1:p.Thr409Ile
NM_001287810.3:c.2519C>T NP_001274739.1:p.Thr840Ile
NM_001324119.2:c.2621C>T NP_001311048.1:p.Thr874Ile
NM_001324120.2:c.2519C>T NP_001311049.1:p.Thr840Ile
NM_001324122.2:c.839C>T NP_001311051.1:p.Thr280Ile
NM_001324123.2:c.2519C>T NP_001311052.1:p.Thr840Ile
NM_001324124.2:c.2429C>T NP_001311053.1:p.Thr810Ile
NM_001324125.2:c.2153C>T NP_001311054.1:p.Thr718Ile
NM_001324126.2:c.2417C>T NP_001311055.1:p.Thr806Ile
NM_014608.5:c.2519C>T NP_055423.1:p.Thr840Ile
XM_011543873.3:c.2918C>T XP_011542175.1:p.Thr973Ile
XM_011543874.2:c.2918C>T XP_011542176.1:p.Thr973Ile
XM_011543876.3:c.2615C>T XP_011542178.2:p.Thr872Ile
XM_017022023.2:c.3020C>T XP_016877512.1:p.Thr1007Ile
XM_017022024.2:c.2918C>T XP_016877513.1:p.Thr973Ile
XM_024449876.1:c.2918C>T XP_024305644.1:p.Thr973Ile
XM_024449877.1:c.2519C>T XP_024305645.1:p.Thr840Ile
NM_014608.6:c.2519C>T MANE Select NP_055423.1:p.Thr840Ile
NM_001287810.4:c.2519C>T NP_001274739.1:p.Thr840Ile
NM_001324122.3:c.839C>T NP_001311051.1:p.Thr280Ile
NM_001324123.3:c.2519C>T NP_001311052.1:p.Thr840Ile
NM_001324124.3:c.2429C>T NP_001311053.1:p.Thr810Ile
NM_001324125.3:c.2153C>T NP_001311054.1:p.Thr718Ile
NM_001324126.3:c.2417C>T NP_001311055.1:p.Thr806Ile
NM_001033028.3:c.1226C>T NP_001028200.1:p.Thr409Ile