Canonical Allele Identifier: CA391334847

Gene: CYFIP1

Linked Data

• dbSNP Id: rs1239880122
• gnomAD v4: 15-22903887-C-T
• MyVariant Identifiers: chr15:g.22969181G>A (hg19) ; chr15:g.22903887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903887C>T , CM000677.2:g.22903887C>T	GRCh38
NC_000015.9:g.22969181G>A , CM000677.1:g.22969181G>A	GRCh37
NC_000015.8:g.20520622G>A	NCBI36
NG_054889.1:g.82020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2401G>A	ENSP00000479802.2:p.Glu801Lys
ENST00000617928.5:c.2407G>A MANE Select	ENSP00000481038.1:p.Glu803Lys
ENST00000610365.4:c.2407G>A	ENSP00000478779.1:p.Glu803Lys
ENST00000617556.4:c.1114G>A	ENSP00000480525.1:p.Glu372Lys
ENST00000617928.4:c.2407G>A	ENSP00000481038.1:p.Glu803Lys
ENST00000619290.4:n.800G>A
ENST00000619348.4:n.1554G>A
NM_001033028.1:c.1114G>A	NP_001028200.1:p.Glu372Lys
NM_001287810.1:c.2407G>A	NP_001274739.1:p.Glu803Lys
NM_014608.3:c.2407G>A	NP_055423.1:p.Glu803Lys
XM_011543873.1:c.2806G>A	XP_011542175.1:p.Glu936Lys
XM_011543874.1:c.2806G>A	XP_011542176.1:p.Glu936Lys
XM_011543875.1:c.2806G>A	XP_011542177.1:p.Glu936Lys
XM_011543876.1:c.2401G>A	XP_011542178.1:p.Glu801Lys
NM_001033028.2:c.1114G>A	NP_001028200.1:p.Glu372Lys
NM_001287810.3:c.2407G>A	NP_001274739.1:p.Glu803Lys
NM_001324119.2:c.2509G>A	NP_001311048.1:p.Glu837Lys
NM_001324120.2:c.2407G>A	NP_001311049.1:p.Glu803Lys
NM_001324122.2:c.727G>A	NP_001311051.1:p.Glu243Lys
NM_001324123.2:c.2407G>A	NP_001311052.1:p.Glu803Lys
NM_001324124.2:c.2317G>A	NP_001311053.1:p.Glu773Lys
NM_001324125.2:c.2041G>A	NP_001311054.1:p.Glu681Lys
NM_001324126.2:c.2305G>A	NP_001311055.1:p.Glu769Lys
NM_014608.5:c.2407G>A	NP_055423.1:p.Glu803Lys
XM_011543873.3:c.2806G>A	XP_011542175.1:p.Glu936Lys
XM_011543874.2:c.2806G>A	XP_011542176.1:p.Glu936Lys
XM_011543876.3:c.2503G>A	XP_011542178.2:p.Glu835Lys
XM_017022023.2:c.2908G>A	XP_016877512.1:p.Glu970Lys
XM_017022024.2:c.2806G>A	XP_016877513.1:p.Glu936Lys
XM_024449876.1:c.2806G>A	XP_024305644.1:p.Glu936Lys
XM_024449877.1:c.2407G>A	XP_024305645.1:p.Glu803Lys
NM_014608.6:c.2407G>A MANE Select	NP_055423.1:p.Glu803Lys
NM_001287810.4:c.2407G>A	NP_001274739.1:p.Glu803Lys
NM_001324122.3:c.727G>A	NP_001311051.1:p.Glu243Lys
NM_001324123.3:c.2407G>A	NP_001311052.1:p.Glu803Lys
NM_001324124.3:c.2317G>A	NP_001311053.1:p.Glu773Lys
NM_001324125.3:c.2041G>A	NP_001311054.1:p.Glu681Lys
NM_001324126.3:c.2305G>A	NP_001311055.1:p.Glu769Lys
NM_001033028.3:c.1114G>A	NP_001028200.1:p.Glu372Lys