Canonical Allele Identifier: CA391334736

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969206T>A (hg19) ; chr15:g.22903862A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903862A>T , CM000677.2:g.22903862A>T	GRCh38
NC_000015.9:g.22969206T>A , CM000677.1:g.22969206T>A	GRCh37
NC_000015.8:g.20520647T>A	NCBI36
NG_054889.1:g.82045T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2426T>A	ENSP00000479802.2:p.Leu809Gln
ENST00000617928.5:c.2432T>A MANE Select	ENSP00000481038.1:p.Leu811Gln
ENST00000610365.4:c.2432T>A	ENSP00000478779.1:p.Leu811Gln
ENST00000617556.4:c.1139T>A	ENSP00000480525.1:p.Leu380Gln
ENST00000617928.4:c.2432T>A	ENSP00000481038.1:p.Leu811Gln
ENST00000619290.4:n.825T>A
ENST00000619348.4:n.1579T>A
NM_001033028.1:c.1139T>A	NP_001028200.1:p.Leu380Gln
NM_001287810.1:c.2432T>A	NP_001274739.1:p.Leu811Gln
NM_014608.3:c.2432T>A	NP_055423.1:p.Leu811Gln
XM_011543873.1:c.2831T>A	XP_011542175.1:p.Leu944Gln
XM_011543874.1:c.2831T>A	XP_011542176.1:p.Leu944Gln
XM_011543875.1:c.2831T>A	XP_011542177.1:p.Leu944Gln
XM_011543876.1:c.2426T>A	XP_011542178.1:p.Leu809Gln
NM_001033028.2:c.1139T>A	NP_001028200.1:p.Leu380Gln
NM_001287810.3:c.2432T>A	NP_001274739.1:p.Leu811Gln
NM_001324119.2:c.2534T>A	NP_001311048.1:p.Leu845Gln
NM_001324120.2:c.2432T>A	NP_001311049.1:p.Leu811Gln
NM_001324122.2:c.752T>A	NP_001311051.1:p.Leu251Gln
NM_001324123.2:c.2432T>A	NP_001311052.1:p.Leu811Gln
NM_001324124.2:c.2342T>A	NP_001311053.1:p.Leu781Gln
NM_001324125.2:c.2066T>A	NP_001311054.1:p.Leu689Gln
NM_001324126.2:c.2330T>A	NP_001311055.1:p.Leu777Gln
NM_014608.5:c.2432T>A	NP_055423.1:p.Leu811Gln
XM_011543873.3:c.2831T>A	XP_011542175.1:p.Leu944Gln
XM_011543874.2:c.2831T>A	XP_011542176.1:p.Leu944Gln
XM_011543876.3:c.2528T>A	XP_011542178.2:p.Leu843Gln
XM_017022023.2:c.2933T>A	XP_016877512.1:p.Leu978Gln
XM_017022024.2:c.2831T>A	XP_016877513.1:p.Leu944Gln
XM_024449876.1:c.2831T>A	XP_024305644.1:p.Leu944Gln
XM_024449877.1:c.2432T>A	XP_024305645.1:p.Leu811Gln
NM_014608.6:c.2432T>A MANE Select	NP_055423.1:p.Leu811Gln
NM_001287810.4:c.2432T>A	NP_001274739.1:p.Leu811Gln
NM_001324122.3:c.752T>A	NP_001311051.1:p.Leu251Gln
NM_001324123.3:c.2432T>A	NP_001311052.1:p.Leu811Gln
NM_001324124.3:c.2342T>A	NP_001311053.1:p.Leu781Gln
NM_001324125.3:c.2066T>A	NP_001311054.1:p.Leu689Gln
NM_001324126.3:c.2330T>A	NP_001311055.1:p.Leu777Gln
NM_001033028.3:c.1139T>A	NP_001028200.1:p.Leu380Gln