Canonical Allele Identifier: CA391334912

Gene: CYFIP1

Linked Data

• gnomAD v4: 15-22903905-C-T
• MyVariant Identifiers: chr15:g.22969163G>A (hg19) ; chr15:g.22903905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903905C>T , CM000677.2:g.22903905C>T	GRCh38
NC_000015.9:g.22969163G>A , CM000677.1:g.22969163G>A	GRCh37
NC_000015.8:g.20520604G>A	NCBI36
NG_054889.1:g.82002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2383G>A	ENSP00000479802.2:p.Glu795Lys
ENST00000617928.5:c.2389G>A MANE Select	ENSP00000481038.1:p.Glu797Lys
ENST00000610365.4:c.2389G>A	ENSP00000478779.1:p.Glu797Lys
ENST00000617556.4:c.1096G>A	ENSP00000480525.1:p.Glu366Lys
ENST00000617928.4:c.2389G>A	ENSP00000481038.1:p.Glu797Lys
ENST00000619290.4:n.782G>A
ENST00000619348.4:n.1536G>A
NM_001033028.1:c.1096G>A	NP_001028200.1:p.Glu366Lys
NM_001287810.1:c.2389G>A	NP_001274739.1:p.Glu797Lys
NM_014608.3:c.2389G>A	NP_055423.1:p.Glu797Lys
XM_011543873.1:c.2788G>A	XP_011542175.1:p.Glu930Lys
XM_011543874.1:c.2788G>A	XP_011542176.1:p.Glu930Lys
XM_011543875.1:c.2788G>A	XP_011542177.1:p.Glu930Lys
XM_011543876.1:c.2383G>A	XP_011542178.1:p.Glu795Lys
NM_001033028.2:c.1096G>A	NP_001028200.1:p.Glu366Lys
NM_001287810.3:c.2389G>A	NP_001274739.1:p.Glu797Lys
NM_001324119.2:c.2491G>A	NP_001311048.1:p.Glu831Lys
NM_001324120.2:c.2389G>A	NP_001311049.1:p.Glu797Lys
NM_001324122.2:c.709G>A	NP_001311051.1:p.Glu237Lys
NM_001324123.2:c.2389G>A	NP_001311052.1:p.Glu797Lys
NM_001324124.2:c.2299G>A	NP_001311053.1:p.Glu767Lys
NM_001324125.2:c.2023G>A	NP_001311054.1:p.Glu675Lys
NM_001324126.2:c.2287G>A	NP_001311055.1:p.Glu763Lys
NM_014608.5:c.2389G>A	NP_055423.1:p.Glu797Lys
XM_011543873.3:c.2788G>A	XP_011542175.1:p.Glu930Lys
XM_011543874.2:c.2788G>A	XP_011542176.1:p.Glu930Lys
XM_011543876.3:c.2485G>A	XP_011542178.2:p.Glu829Lys
XM_017022023.2:c.2890G>A	XP_016877512.1:p.Glu964Lys
XM_017022024.2:c.2788G>A	XP_016877513.1:p.Glu930Lys
XM_024449876.1:c.2788G>A	XP_024305644.1:p.Glu930Lys
XM_024449877.1:c.2389G>A	XP_024305645.1:p.Glu797Lys
NM_014608.6:c.2389G>A MANE Select	NP_055423.1:p.Glu797Lys
NM_001287810.4:c.2389G>A	NP_001274739.1:p.Glu797Lys
NM_001324122.3:c.709G>A	NP_001311051.1:p.Glu237Lys
NM_001324123.3:c.2389G>A	NP_001311052.1:p.Glu797Lys
NM_001324124.3:c.2299G>A	NP_001311053.1:p.Glu767Lys
NM_001324125.3:c.2023G>A	NP_001311054.1:p.Glu675Lys
NM_001324126.3:c.2287G>A	NP_001311055.1:p.Glu763Lys
NM_001033028.3:c.1096G>A	NP_001028200.1:p.Glu366Lys