Canonical Allele Identifier: CA7425129

Gene: CYFIP1

Linked Data

• ClinVar Variation Id: 2380456
• ClinVar RCV Id: RCV004218951
• dbSNP Id: rs550408572
• ExAC: 15:22969349 G / A
• gnomAD v2: 15-22969349-G-A
• gnomAD v3: 15-22903719-C-T
• gnomAD v4: 15-22903719-C-T
• MyVariant Identifiers: chr15:g.22969349G>A (hg19) ; chr15:g.22903719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903719C>T , CM000677.2:g.22903719C>T	GRCh38
NC_000015.9:g.22969349G>A , CM000677.1:g.22969349G>A	GRCh37
NC_000015.8:g.20520790G>A	NCBI36
NG_054889.1:g.82188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2569G>A	ENSP00000479802.2:p.Gly857Ser
ENST00000617928.5:c.2575G>A MANE Select	ENSP00000481038.1:p.Gly859Ser
ENST00000610365.4:c.2575G>A	ENSP00000478779.1:p.Gly859Ser
ENST00000617556.4:c.1282G>A	ENSP00000480525.1:p.Gly428Ser
ENST00000617928.4:c.2575G>A	ENSP00000481038.1:p.Gly859Ser
ENST00000619348.4:n.1722G>A
NM_001033028.1:c.1282G>A	NP_001028200.1:p.Gly428Ser
NM_001287810.1:c.2575G>A	NP_001274739.1:p.Gly859Ser
NM_014608.3:c.2575G>A	NP_055423.1:p.Gly859Ser
XM_011543873.1:c.2974G>A	XP_011542175.1:p.Gly992Ser
XM_011543874.1:c.2974G>A	XP_011542176.1:p.Gly992Ser
XM_011543875.1:c.2974G>A	XP_011542177.1:p.Gly992Ser
XM_011543876.1:c.2569G>A	XP_011542178.1:p.Gly857Ser
NM_001033028.2:c.1282G>A	NP_001028200.1:p.Gly428Ser
NM_001287810.3:c.2575G>A	NP_001274739.1:p.Gly859Ser
NM_001324119.2:c.2677G>A	NP_001311048.1:p.Gly893Ser
NM_001324120.2:c.2575G>A	NP_001311049.1:p.Gly859Ser
NM_001324122.2:c.895G>A	NP_001311051.1:p.Gly299Ser
NM_001324123.2:c.2575G>A	NP_001311052.1:p.Gly859Ser
NM_001324124.2:c.2485G>A	NP_001311053.1:p.Gly829Ser
NM_001324125.2:c.2209G>A	NP_001311054.1:p.Gly737Ser
NM_001324126.2:c.2473G>A	NP_001311055.1:p.Gly825Ser
NM_014608.5:c.2575G>A	NP_055423.1:p.Gly859Ser
XM_011543873.3:c.2974G>A	XP_011542175.1:p.Gly992Ser
XM_011543874.2:c.2974G>A	XP_011542176.1:p.Gly992Ser
XM_011543876.3:c.2671G>A	XP_011542178.2:p.Gly891Ser
XM_017022023.2:c.3076G>A	XP_016877512.1:p.Gly1026Ser
XM_017022024.2:c.2974G>A	XP_016877513.1:p.Gly992Ser
XM_024449876.1:c.2974G>A	XP_024305644.1:p.Gly992Ser
XM_024449877.1:c.2575G>A	XP_024305645.1:p.Gly859Ser
NM_014608.6:c.2575G>A MANE Select	NP_055423.1:p.Gly859Ser
NM_001287810.4:c.2575G>A	NP_001274739.1:p.Gly859Ser
NM_001324122.3:c.895G>A	NP_001311051.1:p.Gly299Ser
NM_001324123.3:c.2575G>A	NP_001311052.1:p.Gly859Ser
NM_001324124.3:c.2485G>A	NP_001311053.1:p.Gly829Ser
NM_001324125.3:c.2209G>A	NP_001311054.1:p.Gly737Ser
NM_001324126.3:c.2473G>A	NP_001311055.1:p.Gly825Ser
NM_001033028.3:c.1282G>A	NP_001028200.1:p.Gly428Ser