Canonical Allele Identifier: CA488526521

Gene: CYFIP1

Linked Data

• dbSNP Id: rs1173167342
• gnomAD v2: 15-22969175-C-T
• MyVariant Identifiers: chr15:g.22969175C>T (hg19) ; chr15:g.22903893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903893G>A , CM000677.2:g.22903893G>A	GRCh38
NC_000015.9:g.22969175C>T , CM000677.1:g.22969175C>T	GRCh37
NC_000015.8:g.20520616C>T	NCBI36
NG_054889.1:g.82014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2395C>T	ENSP00000479802.2:p.Leu799=
ENST00000617928.5:c.2401C>T MANE Select	ENSP00000481038.1:p.Leu801=
ENST00000610365.4:c.2401C>T	ENSP00000478779.1:p.Leu801=
ENST00000617556.4:c.1108C>T	ENSP00000480525.1:p.Leu370=
ENST00000617928.4:c.2401C>T	ENSP00000481038.1:p.Leu801=
ENST00000619290.4:n.794C>T
ENST00000619348.4:n.1548C>T
NM_001033028.1:c.1108C>T	NP_001028200.1:p.Leu370=
NM_001287810.1:c.2401C>T	NP_001274739.1:p.Leu801=
NM_014608.3:c.2401C>T	NP_055423.1:p.Leu801=
XM_011543873.1:c.2800C>T	XP_011542175.1:p.Leu934=
XM_011543874.1:c.2800C>T	XP_011542176.1:p.Leu934=
XM_011543875.1:c.2800C>T	XP_011542177.1:p.Leu934=
XM_011543876.1:c.2395C>T	XP_011542178.1:p.Leu799=
NM_001033028.2:c.1108C>T	NP_001028200.1:p.Leu370=
NM_001287810.3:c.2401C>T	NP_001274739.1:p.Leu801=
NM_001324119.2:c.2503C>T	NP_001311048.1:p.Leu835=
NM_001324120.2:c.2401C>T	NP_001311049.1:p.Leu801=
NM_001324122.2:c.721C>T	NP_001311051.1:p.Leu241=
NM_001324123.2:c.2401C>T	NP_001311052.1:p.Leu801=
NM_001324124.2:c.2311C>T	NP_001311053.1:p.Leu771=
NM_001324125.2:c.2035C>T	NP_001311054.1:p.Leu679=
NM_001324126.2:c.2299C>T	NP_001311055.1:p.Leu767=
NM_014608.5:c.2401C>T	NP_055423.1:p.Leu801=
XM_011543873.3:c.2800C>T	XP_011542175.1:p.Leu934=
XM_011543874.2:c.2800C>T	XP_011542176.1:p.Leu934=
XM_011543876.3:c.2497C>T	XP_011542178.2:p.Leu833=
XM_017022023.2:c.2902C>T	XP_016877512.1:p.Leu968=
XM_017022024.2:c.2800C>T	XP_016877513.1:p.Leu934=
XM_024449876.1:c.2800C>T	XP_024305644.1:p.Leu934=
XM_024449877.1:c.2401C>T	XP_024305645.1:p.Leu801=
NM_014608.6:c.2401C>T MANE Select	NP_055423.1:p.Leu801=
NM_001287810.4:c.2401C>T	NP_001274739.1:p.Leu801=
NM_001324122.3:c.721C>T	NP_001311051.1:p.Leu241=
NM_001324123.3:c.2401C>T	NP_001311052.1:p.Leu801=
NM_001324124.3:c.2311C>T	NP_001311053.1:p.Leu771=
NM_001324125.3:c.2035C>T	NP_001311054.1:p.Leu679=
NM_001324126.3:c.2299C>T	NP_001311055.1:p.Leu767=
NM_001033028.3:c.1108C>T	NP_001028200.1:p.Leu370=