Canonical Allele Identifier: CA2163978099

Gene: CYFIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903848G= , CM000677.2:g.22903848G=	GRCh38
NC_000015.9:g.22969220C= , CM000677.1:g.22969220C=	GRCh37
NC_000015.8:g.20520661C=	NCBI36
NG_054889.1:g.82059C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2440C=	ENSP00000479802.2:p.Leu814=
ENST00000617928.5:c.2446C= MANE Select	ENSP00000481038.1:p.Leu816=
ENST00000610365.4:c.2446C=	ENSP00000478779.1:p.Leu816=
ENST00000617556.4:c.1153C=	ENSP00000480525.1:p.Leu385=
ENST00000617928.4:c.2446C=	ENSP00000481038.1:p.Leu816=
ENST00000619290.4:n.839C=
ENST00000619348.4:n.1593C=
NM_001033028.1:c.1153C=	NP_001028200.1:p.Leu385=
NM_001287810.1:c.2446C=	NP_001274739.1:p.Leu816=
NM_014608.3:c.2446C=	NP_055423.1:p.Leu816=
XM_011543873.1:c.2845C=	XP_011542175.1:p.Leu949=
XM_011543874.1:c.2845C=	XP_011542176.1:p.Leu949=
XM_011543875.1:c.2845C=	XP_011542177.1:p.Leu949=
XM_011543876.1:c.2440C=	XP_011542178.1:p.Leu814=
NM_001033028.2:c.1153C=	NP_001028200.1:p.Leu385=
NM_001287810.3:c.2446C=	NP_001274739.1:p.Leu816=
NM_001324119.2:c.2548C=	NP_001311048.1:p.Leu850=
NM_001324120.2:c.2446C=	NP_001311049.1:p.Leu816=
NM_001324122.2:c.766C=	NP_001311051.1:p.Leu256=
NM_001324123.2:c.2446C=	NP_001311052.1:p.Leu816=
NM_001324124.2:c.2356C=	NP_001311053.1:p.Leu786=
NM_001324125.2:c.2080C=	NP_001311054.1:p.Leu694=
NM_001324126.2:c.2344C=	NP_001311055.1:p.Leu782=
NM_014608.5:c.2446C=	NP_055423.1:p.Leu816=
XM_011543873.3:c.2845C=	XP_011542175.1:p.Leu949=
XM_011543874.2:c.2845C=	XP_011542176.1:p.Leu949=
XM_011543876.3:c.2542C=	XP_011542178.2:p.Leu848=
XM_017022023.2:c.2947C=	XP_016877512.1:p.Leu983=
XM_017022024.2:c.2845C=	XP_016877513.1:p.Leu949=
XM_024449876.1:c.2845C=	XP_024305644.1:p.Leu949=
XM_024449877.1:c.2446C=	XP_024305645.1:p.Leu816=
NM_014608.6:c.2446C= MANE Select	NP_055423.1:p.Leu816=
NM_001287810.4:c.2446C=	NP_001274739.1:p.Leu816=
NM_001324122.3:c.766C=	NP_001311051.1:p.Leu256=
NM_001324123.3:c.2446C=	NP_001311052.1:p.Leu816=
NM_001324124.3:c.2356C=	NP_001311053.1:p.Leu786=
NM_001324125.3:c.2080C=	NP_001311054.1:p.Leu694=
NM_001324126.3:c.2344C=	NP_001311055.1:p.Leu782=
NM_001033028.3:c.1153C=	NP_001028200.1:p.Leu385=