Canonical Allele Identifier: CA391334831

Gene: CYFIP1

Linked Data

• dbSNP Id: rs2060484162
• gnomAD v4: 15-22903884-T-C
• MyVariant Identifiers: chr15:g.22969184A>G (hg19) ; chr15:g.22903884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903884T>C , CM000677.2:g.22903884T>C	GRCh38
NC_000015.9:g.22969184A>G , CM000677.1:g.22969184A>G	GRCh37
NC_000015.8:g.20520625A>G	NCBI36
NG_054889.1:g.82023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2404A>G	ENSP00000479802.2:p.Ile802Val
ENST00000617928.5:c.2410A>G MANE Select	ENSP00000481038.1:p.Ile804Val
ENST00000610365.4:c.2410A>G	ENSP00000478779.1:p.Ile804Val
ENST00000617556.4:c.1117A>G	ENSP00000480525.1:p.Ile373Val
ENST00000617928.4:c.2410A>G	ENSP00000481038.1:p.Ile804Val
ENST00000619290.4:n.803A>G
ENST00000619348.4:n.1557A>G
NM_001033028.1:c.1117A>G	NP_001028200.1:p.Ile373Val
NM_001287810.1:c.2410A>G	NP_001274739.1:p.Ile804Val
NM_014608.3:c.2410A>G	NP_055423.1:p.Ile804Val
XM_011543873.1:c.2809A>G	XP_011542175.1:p.Ile937Val
XM_011543874.1:c.2809A>G	XP_011542176.1:p.Ile937Val
XM_011543875.1:c.2809A>G	XP_011542177.1:p.Ile937Val
XM_011543876.1:c.2404A>G	XP_011542178.1:p.Ile802Val
NM_001033028.2:c.1117A>G	NP_001028200.1:p.Ile373Val
NM_001287810.3:c.2410A>G	NP_001274739.1:p.Ile804Val
NM_001324119.2:c.2512A>G	NP_001311048.1:p.Ile838Val
NM_001324120.2:c.2410A>G	NP_001311049.1:p.Ile804Val
NM_001324122.2:c.730A>G	NP_001311051.1:p.Ile244Val
NM_001324123.2:c.2410A>G	NP_001311052.1:p.Ile804Val
NM_001324124.2:c.2320A>G	NP_001311053.1:p.Ile774Val
NM_001324125.2:c.2044A>G	NP_001311054.1:p.Ile682Val
NM_001324126.2:c.2308A>G	NP_001311055.1:p.Ile770Val
NM_014608.5:c.2410A>G	NP_055423.1:p.Ile804Val
XM_011543873.3:c.2809A>G	XP_011542175.1:p.Ile937Val
XM_011543874.2:c.2809A>G	XP_011542176.1:p.Ile937Val
XM_011543876.3:c.2506A>G	XP_011542178.2:p.Ile836Val
XM_017022023.2:c.2911A>G	XP_016877512.1:p.Ile971Val
XM_017022024.2:c.2809A>G	XP_016877513.1:p.Ile937Val
XM_024449876.1:c.2809A>G	XP_024305644.1:p.Ile937Val
XM_024449877.1:c.2410A>G	XP_024305645.1:p.Ile804Val
NM_014608.6:c.2410A>G MANE Select	NP_055423.1:p.Ile804Val
NM_001287810.4:c.2410A>G	NP_001274739.1:p.Ile804Val
NM_001324122.3:c.730A>G	NP_001311051.1:p.Ile244Val
NM_001324123.3:c.2410A>G	NP_001311052.1:p.Ile804Val
NM_001324124.3:c.2320A>G	NP_001311053.1:p.Ile774Val
NM_001324125.3:c.2044A>G	NP_001311054.1:p.Ile682Val
NM_001324126.3:c.2308A>G	NP_001311055.1:p.Ile770Val
NM_001033028.3:c.1117A>G	NP_001028200.1:p.Ile373Val