Canonical Allele Identifier: CA391334874

Gene: CYFIP1

Linked Data

• gnomAD v4: 15-22903895-C-T
• MyVariant Identifiers: chr15:g.22969173G>A (hg19) ; chr15:g.22903895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903895C>T , CM000677.2:g.22903895C>T	GRCh38
NC_000015.9:g.22969173G>A , CM000677.1:g.22969173G>A	GRCh37
NC_000015.8:g.20520614G>A	NCBI36
NG_054889.1:g.82012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2393G>A	ENSP00000479802.2:p.Gly798Asp
ENST00000617928.5:c.2399G>A MANE Select	ENSP00000481038.1:p.Gly800Asp
ENST00000610365.4:c.2399G>A	ENSP00000478779.1:p.Gly800Asp
ENST00000617556.4:c.1106G>A	ENSP00000480525.1:p.Gly369Asp
ENST00000617928.4:c.2399G>A	ENSP00000481038.1:p.Gly800Asp
ENST00000619290.4:n.792G>A
ENST00000619348.4:n.1546G>A
NM_001033028.1:c.1106G>A	NP_001028200.1:p.Gly369Asp
NM_001287810.1:c.2399G>A	NP_001274739.1:p.Gly800Asp
NM_014608.3:c.2399G>A	NP_055423.1:p.Gly800Asp
XM_011543873.1:c.2798G>A	XP_011542175.1:p.Gly933Asp
XM_011543874.1:c.2798G>A	XP_011542176.1:p.Gly933Asp
XM_011543875.1:c.2798G>A	XP_011542177.1:p.Gly933Asp
XM_011543876.1:c.2393G>A	XP_011542178.1:p.Gly798Asp
NM_001033028.2:c.1106G>A	NP_001028200.1:p.Gly369Asp
NM_001287810.3:c.2399G>A	NP_001274739.1:p.Gly800Asp
NM_001324119.2:c.2501G>A	NP_001311048.1:p.Gly834Asp
NM_001324120.2:c.2399G>A	NP_001311049.1:p.Gly800Asp
NM_001324122.2:c.719G>A	NP_001311051.1:p.Gly240Asp
NM_001324123.2:c.2399G>A	NP_001311052.1:p.Gly800Asp
NM_001324124.2:c.2309G>A	NP_001311053.1:p.Gly770Asp
NM_001324125.2:c.2033G>A	NP_001311054.1:p.Gly678Asp
NM_001324126.2:c.2297G>A	NP_001311055.1:p.Gly766Asp
NM_014608.5:c.2399G>A	NP_055423.1:p.Gly800Asp
XM_011543873.3:c.2798G>A	XP_011542175.1:p.Gly933Asp
XM_011543874.2:c.2798G>A	XP_011542176.1:p.Gly933Asp
XM_011543876.3:c.2495G>A	XP_011542178.2:p.Gly832Asp
XM_017022023.2:c.2900G>A	XP_016877512.1:p.Gly967Asp
XM_017022024.2:c.2798G>A	XP_016877513.1:p.Gly933Asp
XM_024449876.1:c.2798G>A	XP_024305644.1:p.Gly933Asp
XM_024449877.1:c.2399G>A	XP_024305645.1:p.Gly800Asp
NM_014608.6:c.2399G>A MANE Select	NP_055423.1:p.Gly800Asp
NM_001287810.4:c.2399G>A	NP_001274739.1:p.Gly800Asp
NM_001324122.3:c.719G>A	NP_001311051.1:p.Gly240Asp
NM_001324123.3:c.2399G>A	NP_001311052.1:p.Gly800Asp
NM_001324124.3:c.2309G>A	NP_001311053.1:p.Gly770Asp
NM_001324125.3:c.2033G>A	NP_001311054.1:p.Gly678Asp
NM_001324126.3:c.2297G>A	NP_001311055.1:p.Gly766Asp
NM_001033028.3:c.1106G>A	NP_001028200.1:p.Gly369Asp