Canonical Allele Identifier: CA391334492

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969269T>A (hg19) ; chr15:g.22903799A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903799A>T , CM000677.2:g.22903799A>T	GRCh38
NC_000015.9:g.22969269T>A , CM000677.1:g.22969269T>A	GRCh37
NC_000015.8:g.20520710T>A	NCBI36
NG_054889.1:g.82108T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2489T>A	ENSP00000479802.2:p.Val830Glu
ENST00000617928.5:c.2495T>A MANE Select	ENSP00000481038.1:p.Val832Glu
ENST00000610365.4:c.2495T>A	ENSP00000478779.1:p.Val832Glu
ENST00000617556.4:c.1202T>A	ENSP00000480525.1:p.Val401Glu
ENST00000617928.4:c.2495T>A	ENSP00000481038.1:p.Val832Glu
ENST00000619290.4:n.888T>A
ENST00000619348.4:n.1642T>A
NM_001033028.1:c.1202T>A	NP_001028200.1:p.Val401Glu
NM_001287810.1:c.2495T>A	NP_001274739.1:p.Val832Glu
NM_014608.3:c.2495T>A	NP_055423.1:p.Val832Glu
XM_011543873.1:c.2894T>A	XP_011542175.1:p.Val965Glu
XM_011543874.1:c.2894T>A	XP_011542176.1:p.Val965Glu
XM_011543875.1:c.2894T>A	XP_011542177.1:p.Val965Glu
XM_011543876.1:c.2489T>A	XP_011542178.1:p.Val830Glu
NM_001033028.2:c.1202T>A	NP_001028200.1:p.Val401Glu
NM_001287810.3:c.2495T>A	NP_001274739.1:p.Val832Glu
NM_001324119.2:c.2597T>A	NP_001311048.1:p.Val866Glu
NM_001324120.2:c.2495T>A	NP_001311049.1:p.Val832Glu
NM_001324122.2:c.815T>A	NP_001311051.1:p.Val272Glu
NM_001324123.2:c.2495T>A	NP_001311052.1:p.Val832Glu
NM_001324124.2:c.2405T>A	NP_001311053.1:p.Val802Glu
NM_001324125.2:c.2129T>A	NP_001311054.1:p.Val710Glu
NM_001324126.2:c.2393T>A	NP_001311055.1:p.Val798Glu
NM_014608.5:c.2495T>A	NP_055423.1:p.Val832Glu
XM_011543873.3:c.2894T>A	XP_011542175.1:p.Val965Glu
XM_011543874.2:c.2894T>A	XP_011542176.1:p.Val965Glu
XM_011543876.3:c.2591T>A	XP_011542178.2:p.Val864Glu
XM_017022023.2:c.2996T>A	XP_016877512.1:p.Val999Glu
XM_017022024.2:c.2894T>A	XP_016877513.1:p.Val965Glu
XM_024449876.1:c.2894T>A	XP_024305644.1:p.Val965Glu
XM_024449877.1:c.2495T>A	XP_024305645.1:p.Val832Glu
NM_014608.6:c.2495T>A MANE Select	NP_055423.1:p.Val832Glu
NM_001287810.4:c.2495T>A	NP_001274739.1:p.Val832Glu
NM_001324122.3:c.815T>A	NP_001311051.1:p.Val272Glu
NM_001324123.3:c.2495T>A	NP_001311052.1:p.Val832Glu
NM_001324124.3:c.2405T>A	NP_001311053.1:p.Val802Glu
NM_001324125.3:c.2129T>A	NP_001311054.1:p.Val710Glu
NM_001324126.3:c.2393T>A	NP_001311055.1:p.Val798Glu
NM_001033028.3:c.1202T>A	NP_001028200.1:p.Val401Glu