Canonical Allele Identifier: CA7425096

Gene: CYFIP1

Linked Data

• dbSNP Id: rs771057408
• ExAC: 15:22969202 A / G
• gnomAD v2: 15-22969202-A-G
• gnomAD v3: 15-22903866-T-C
• gnomAD v4: 15-22903866-T-C
• MyVariant Identifiers: chr15:g.22969202A>G (hg19) ; chr15:g.22903866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903866T>C , CM000677.2:g.22903866T>C	GRCh38
NC_000015.9:g.22969202A>G , CM000677.1:g.22969202A>G	GRCh37
NC_000015.8:g.20520643A>G	NCBI36
NG_054889.1:g.82041A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2422A>G	ENSP00000479802.2:p.Lys808Glu
ENST00000617928.5:c.2428A>G MANE Select	ENSP00000481038.1:p.Lys810Glu
ENST00000610365.4:c.2428A>G	ENSP00000478779.1:p.Lys810Glu
ENST00000617556.4:c.1135A>G	ENSP00000480525.1:p.Lys379Glu
ENST00000617928.4:c.2428A>G	ENSP00000481038.1:p.Lys810Glu
ENST00000619290.4:n.821A>G
ENST00000619348.4:n.1575A>G
NM_001033028.1:c.1135A>G	NP_001028200.1:p.Lys379Glu
NM_001287810.1:c.2428A>G	NP_001274739.1:p.Lys810Glu
NM_014608.3:c.2428A>G	NP_055423.1:p.Lys810Glu
XM_011543873.1:c.2827A>G	XP_011542175.1:p.Lys943Glu
XM_011543874.1:c.2827A>G	XP_011542176.1:p.Lys943Glu
XM_011543875.1:c.2827A>G	XP_011542177.1:p.Lys943Glu
XM_011543876.1:c.2422A>G	XP_011542178.1:p.Lys808Glu
NM_001033028.2:c.1135A>G	NP_001028200.1:p.Lys379Glu
NM_001287810.3:c.2428A>G	NP_001274739.1:p.Lys810Glu
NM_001324119.2:c.2530A>G	NP_001311048.1:p.Lys844Glu
NM_001324120.2:c.2428A>G	NP_001311049.1:p.Lys810Glu
NM_001324122.2:c.748A>G	NP_001311051.1:p.Lys250Glu
NM_001324123.2:c.2428A>G	NP_001311052.1:p.Lys810Glu
NM_001324124.2:c.2338A>G	NP_001311053.1:p.Lys780Glu
NM_001324125.2:c.2062A>G	NP_001311054.1:p.Lys688Glu
NM_001324126.2:c.2326A>G	NP_001311055.1:p.Lys776Glu
NM_014608.5:c.2428A>G	NP_055423.1:p.Lys810Glu
XM_011543873.3:c.2827A>G	XP_011542175.1:p.Lys943Glu
XM_011543874.2:c.2827A>G	XP_011542176.1:p.Lys943Glu
XM_011543876.3:c.2524A>G	XP_011542178.2:p.Lys842Glu
XM_017022023.2:c.2929A>G	XP_016877512.1:p.Lys977Glu
XM_017022024.2:c.2827A>G	XP_016877513.1:p.Lys943Glu
XM_024449876.1:c.2827A>G	XP_024305644.1:p.Lys943Glu
XM_024449877.1:c.2428A>G	XP_024305645.1:p.Lys810Glu
NM_014608.6:c.2428A>G MANE Select	NP_055423.1:p.Lys810Glu
NM_001287810.4:c.2428A>G	NP_001274739.1:p.Lys810Glu
NM_001324122.3:c.748A>G	NP_001311051.1:p.Lys250Glu
NM_001324123.3:c.2428A>G	NP_001311052.1:p.Lys810Glu
NM_001324124.3:c.2338A>G	NP_001311053.1:p.Lys780Glu
NM_001324125.3:c.2062A>G	NP_001311054.1:p.Lys688Glu
NM_001324126.3:c.2326A>G	NP_001311055.1:p.Lys776Glu
NM_001033028.3:c.1135A>G	NP_001028200.1:p.Lys379Glu