Canonical Allele Identifier: CA391334752

Gene: CYFIP1

Linked Data

• dbSNP Id: rs1245581083
• gnomAD v2: 15-22969203-A-G
• gnomAD v3: 15-22903865-T-C
• gnomAD v4: 15-22903865-T-C
• MyVariant Identifiers: chr15:g.22969203A>G (hg19) ; chr15:g.22903865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903865T>C , CM000677.2:g.22903865T>C	GRCh38
NC_000015.9:g.22969203A>G , CM000677.1:g.22969203A>G	GRCh37
NC_000015.8:g.20520644A>G	NCBI36
NG_054889.1:g.82042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2423A>G	ENSP00000479802.2:p.Lys808Arg
ENST00000617928.5:c.2429A>G MANE Select	ENSP00000481038.1:p.Lys810Arg
ENST00000610365.4:c.2429A>G	ENSP00000478779.1:p.Lys810Arg
ENST00000617556.4:c.1136A>G	ENSP00000480525.1:p.Lys379Arg
ENST00000617928.4:c.2429A>G	ENSP00000481038.1:p.Lys810Arg
ENST00000619290.4:n.822A>G
ENST00000619348.4:n.1576A>G
NM_001033028.1:c.1136A>G	NP_001028200.1:p.Lys379Arg
NM_001287810.1:c.2429A>G	NP_001274739.1:p.Lys810Arg
NM_014608.3:c.2429A>G	NP_055423.1:p.Lys810Arg
XM_011543873.1:c.2828A>G	XP_011542175.1:p.Lys943Arg
XM_011543874.1:c.2828A>G	XP_011542176.1:p.Lys943Arg
XM_011543875.1:c.2828A>G	XP_011542177.1:p.Lys943Arg
XM_011543876.1:c.2423A>G	XP_011542178.1:p.Lys808Arg
NM_001033028.2:c.1136A>G	NP_001028200.1:p.Lys379Arg
NM_001287810.3:c.2429A>G	NP_001274739.1:p.Lys810Arg
NM_001324119.2:c.2531A>G	NP_001311048.1:p.Lys844Arg
NM_001324120.2:c.2429A>G	NP_001311049.1:p.Lys810Arg
NM_001324122.2:c.749A>G	NP_001311051.1:p.Lys250Arg
NM_001324123.2:c.2429A>G	NP_001311052.1:p.Lys810Arg
NM_001324124.2:c.2339A>G	NP_001311053.1:p.Lys780Arg
NM_001324125.2:c.2063A>G	NP_001311054.1:p.Lys688Arg
NM_001324126.2:c.2327A>G	NP_001311055.1:p.Lys776Arg
NM_014608.5:c.2429A>G	NP_055423.1:p.Lys810Arg
XM_011543873.3:c.2828A>G	XP_011542175.1:p.Lys943Arg
XM_011543874.2:c.2828A>G	XP_011542176.1:p.Lys943Arg
XM_011543876.3:c.2525A>G	XP_011542178.2:p.Lys842Arg
XM_017022023.2:c.2930A>G	XP_016877512.1:p.Lys977Arg
XM_017022024.2:c.2828A>G	XP_016877513.1:p.Lys943Arg
XM_024449876.1:c.2828A>G	XP_024305644.1:p.Lys943Arg
XM_024449877.1:c.2429A>G	XP_024305645.1:p.Lys810Arg
NM_014608.6:c.2429A>G MANE Select	NP_055423.1:p.Lys810Arg
NM_001287810.4:c.2429A>G	NP_001274739.1:p.Lys810Arg
NM_001324122.3:c.749A>G	NP_001311051.1:p.Lys250Arg
NM_001324123.3:c.2429A>G	NP_001311052.1:p.Lys810Arg
NM_001324124.3:c.2339A>G	NP_001311053.1:p.Lys780Arg
NM_001324125.3:c.2063A>G	NP_001311054.1:p.Lys688Arg
NM_001324126.3:c.2327A>G	NP_001311055.1:p.Lys776Arg
NM_001033028.3:c.1136A>G	NP_001028200.1:p.Lys379Arg