Canonical Allele Identifier: CA7425105

Gene: CYFIP1

Linked Data

• ClinVar Variation Id: 711104
• ClinVar RCV Id: RCV000882807
• dbSNP Id: rs17137190
• ExAC: 15:22969233 G / A
• gnomAD v2: 15-22969233-G-A
• gnomAD v3: 15-22903835-C-T
• gnomAD v4: 15-22903835-C-T
• MyVariant Identifiers: chr15:g.22969233G>A (hg19) ; chr15:g.22903835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903835C>T , CM000677.2:g.22903835C>T	GRCh38
NC_000015.9:g.22969233G>A , CM000677.1:g.22969233G>A	GRCh37
NC_000015.8:g.20520674G>A	NCBI36
NG_054889.1:g.82072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2453G>A	ENSP00000479802.2:p.Gly818Asp
ENST00000617928.5:c.2459G>A MANE Select	ENSP00000481038.1:p.Gly820Asp
ENST00000610365.4:c.2459G>A	ENSP00000478779.1:p.Gly820Asp
ENST00000617556.4:c.1166G>A	ENSP00000480525.1:p.Gly389Asp
ENST00000617928.4:c.2459G>A	ENSP00000481038.1:p.Gly820Asp
ENST00000619290.4:n.852G>A
ENST00000619348.4:n.1606G>A
NM_001033028.1:c.1166G>A	NP_001028200.1:p.Gly389Asp
NM_001287810.1:c.2459G>A	NP_001274739.1:p.Gly820Asp
NM_014608.3:c.2459G>A	NP_055423.1:p.Gly820Asp
XM_011543873.1:c.2858G>A	XP_011542175.1:p.Gly953Asp
XM_011543874.1:c.2858G>A	XP_011542176.1:p.Gly953Asp
XM_011543875.1:c.2858G>A	XP_011542177.1:p.Gly953Asp
XM_011543876.1:c.2453G>A	XP_011542178.1:p.Gly818Asp
NM_001033028.2:c.1166G>A	NP_001028200.1:p.Gly389Asp
NM_001287810.3:c.2459G>A	NP_001274739.1:p.Gly820Asp
NM_001324119.2:c.2561G>A	NP_001311048.1:p.Gly854Asp
NM_001324120.2:c.2459G>A	NP_001311049.1:p.Gly820Asp
NM_001324122.2:c.779G>A	NP_001311051.1:p.Gly260Asp
NM_001324123.2:c.2459G>A	NP_001311052.1:p.Gly820Asp
NM_001324124.2:c.2369G>A	NP_001311053.1:p.Gly790Asp
NM_001324125.2:c.2093G>A	NP_001311054.1:p.Gly698Asp
NM_001324126.2:c.2357G>A	NP_001311055.1:p.Gly786Asp
NM_014608.5:c.2459G>A	NP_055423.1:p.Gly820Asp
XM_011543873.3:c.2858G>A	XP_011542175.1:p.Gly953Asp
XM_011543874.2:c.2858G>A	XP_011542176.1:p.Gly953Asp
XM_011543876.3:c.2555G>A	XP_011542178.2:p.Gly852Asp
XM_017022023.2:c.2960G>A	XP_016877512.1:p.Gly987Asp
XM_017022024.2:c.2858G>A	XP_016877513.1:p.Gly953Asp
XM_024449876.1:c.2858G>A	XP_024305644.1:p.Gly953Asp
XM_024449877.1:c.2459G>A	XP_024305645.1:p.Gly820Asp
NM_014608.6:c.2459G>A MANE Select	NP_055423.1:p.Gly820Asp
NM_001287810.4:c.2459G>A	NP_001274739.1:p.Gly820Asp
NM_001324122.3:c.779G>A	NP_001311051.1:p.Gly260Asp
NM_001324123.3:c.2459G>A	NP_001311052.1:p.Gly820Asp
NM_001324124.3:c.2369G>A	NP_001311053.1:p.Gly790Asp
NM_001324125.3:c.2093G>A	NP_001311054.1:p.Gly698Asp
NM_001324126.3:c.2357G>A	NP_001311055.1:p.Gly786Asp
NM_001033028.3:c.1166G>A	NP_001028200.1:p.Gly389Asp