Canonical Allele Identifier: CA7425112

Gene: CYFIP1

Linked Data

• dbSNP Id: rs747314159
• ExAC: 15:22969250 C / T
• gnomAD v2: 15-22969250-C-T
• gnomAD v4: 15-22903818-G-A
• MyVariant Identifiers: chr15:g.22969250C>T (hg19) ; chr15:g.22903818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903818G>A , CM000677.2:g.22903818G>A	GRCh38
NC_000015.9:g.22969250C>T , CM000677.1:g.22969250C>T	GRCh37
NC_000015.8:g.20520691C>T	NCBI36
NG_054889.1:g.82089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2470C>T	ENSP00000479802.2:p.Arg824Trp
ENST00000617928.5:c.2476C>T MANE Select	ENSP00000481038.1:p.Arg826Trp
ENST00000610365.4:c.2476C>T	ENSP00000478779.1:p.Arg826Trp
ENST00000617556.4:c.1183C>T	ENSP00000480525.1:p.Arg395Trp
ENST00000617928.4:c.2476C>T	ENSP00000481038.1:p.Arg826Trp
ENST00000619290.4:n.869C>T
ENST00000619348.4:n.1623C>T
NM_001033028.1:c.1183C>T	NP_001028200.1:p.Arg395Trp
NM_001287810.1:c.2476C>T	NP_001274739.1:p.Arg826Trp
NM_014608.3:c.2476C>T	NP_055423.1:p.Arg826Trp
XM_011543873.1:c.2875C>T	XP_011542175.1:p.Arg959Trp
XM_011543874.1:c.2875C>T	XP_011542176.1:p.Arg959Trp
XM_011543875.1:c.2875C>T	XP_011542177.1:p.Arg959Trp
XM_011543876.1:c.2470C>T	XP_011542178.1:p.Arg824Trp
NM_001033028.2:c.1183C>T	NP_001028200.1:p.Arg395Trp
NM_001287810.3:c.2476C>T	NP_001274739.1:p.Arg826Trp
NM_001324119.2:c.2578C>T	NP_001311048.1:p.Arg860Trp
NM_001324120.2:c.2476C>T	NP_001311049.1:p.Arg826Trp
NM_001324122.2:c.796C>T	NP_001311051.1:p.Arg266Trp
NM_001324123.2:c.2476C>T	NP_001311052.1:p.Arg826Trp
NM_001324124.2:c.2386C>T	NP_001311053.1:p.Arg796Trp
NM_001324125.2:c.2110C>T	NP_001311054.1:p.Arg704Trp
NM_001324126.2:c.2374C>T	NP_001311055.1:p.Arg792Trp
NM_014608.5:c.2476C>T	NP_055423.1:p.Arg826Trp
XM_011543873.3:c.2875C>T	XP_011542175.1:p.Arg959Trp
XM_011543874.2:c.2875C>T	XP_011542176.1:p.Arg959Trp
XM_011543876.3:c.2572C>T	XP_011542178.2:p.Arg858Trp
XM_017022023.2:c.2977C>T	XP_016877512.1:p.Arg993Trp
XM_017022024.2:c.2875C>T	XP_016877513.1:p.Arg959Trp
XM_024449876.1:c.2875C>T	XP_024305644.1:p.Arg959Trp
XM_024449877.1:c.2476C>T	XP_024305645.1:p.Arg826Trp
NM_014608.6:c.2476C>T MANE Select	NP_055423.1:p.Arg826Trp
NM_001287810.4:c.2476C>T	NP_001274739.1:p.Arg826Trp
NM_001324122.3:c.796C>T	NP_001311051.1:p.Arg266Trp
NM_001324123.3:c.2476C>T	NP_001311052.1:p.Arg826Trp
NM_001324124.3:c.2386C>T	NP_001311053.1:p.Arg796Trp
NM_001324125.3:c.2110C>T	NP_001311054.1:p.Arg704Trp
NM_001324126.3:c.2374C>T	NP_001311055.1:p.Arg792Trp
NM_001033028.3:c.1183C>T	NP_001028200.1:p.Arg395Trp