Canonical Allele Identifier: CA391334684

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969221T>A (hg19) ; chr15:g.22903847A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903847A>T , CM000677.2:g.22903847A>T	GRCh38
NC_000015.9:g.22969221T>A , CM000677.1:g.22969221T>A	GRCh37
NC_000015.8:g.20520662T>A	NCBI36
NG_054889.1:g.82060T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2441T>A	ENSP00000479802.2:p.Leu814Gln
ENST00000617928.5:c.2447T>A MANE Select	ENSP00000481038.1:p.Leu816Gln
ENST00000610365.4:c.2447T>A	ENSP00000478779.1:p.Leu816Gln
ENST00000617556.4:c.1154T>A	ENSP00000480525.1:p.Leu385Gln
ENST00000617928.4:c.2447T>A	ENSP00000481038.1:p.Leu816Gln
ENST00000619290.4:n.840T>A
ENST00000619348.4:n.1594T>A
NM_001033028.1:c.1154T>A	NP_001028200.1:p.Leu385Gln
NM_001287810.1:c.2447T>A	NP_001274739.1:p.Leu816Gln
NM_014608.3:c.2447T>A	NP_055423.1:p.Leu816Gln
XM_011543873.1:c.2846T>A	XP_011542175.1:p.Leu949Gln
XM_011543874.1:c.2846T>A	XP_011542176.1:p.Leu949Gln
XM_011543875.1:c.2846T>A	XP_011542177.1:p.Leu949Gln
XM_011543876.1:c.2441T>A	XP_011542178.1:p.Leu814Gln
NM_001033028.2:c.1154T>A	NP_001028200.1:p.Leu385Gln
NM_001287810.3:c.2447T>A	NP_001274739.1:p.Leu816Gln
NM_001324119.2:c.2549T>A	NP_001311048.1:p.Leu850Gln
NM_001324120.2:c.2447T>A	NP_001311049.1:p.Leu816Gln
NM_001324122.2:c.767T>A	NP_001311051.1:p.Leu256Gln
NM_001324123.2:c.2447T>A	NP_001311052.1:p.Leu816Gln
NM_001324124.2:c.2357T>A	NP_001311053.1:p.Leu786Gln
NM_001324125.2:c.2081T>A	NP_001311054.1:p.Leu694Gln
NM_001324126.2:c.2345T>A	NP_001311055.1:p.Leu782Gln
NM_014608.5:c.2447T>A	NP_055423.1:p.Leu816Gln
XM_011543873.3:c.2846T>A	XP_011542175.1:p.Leu949Gln
XM_011543874.2:c.2846T>A	XP_011542176.1:p.Leu949Gln
XM_011543876.3:c.2543T>A	XP_011542178.2:p.Leu848Gln
XM_017022023.2:c.2948T>A	XP_016877512.1:p.Leu983Gln
XM_017022024.2:c.2846T>A	XP_016877513.1:p.Leu949Gln
XM_024449876.1:c.2846T>A	XP_024305644.1:p.Leu949Gln
XM_024449877.1:c.2447T>A	XP_024305645.1:p.Leu816Gln
NM_014608.6:c.2447T>A MANE Select	NP_055423.1:p.Leu816Gln
NM_001287810.4:c.2447T>A	NP_001274739.1:p.Leu816Gln
NM_001324122.3:c.767T>A	NP_001311051.1:p.Leu256Gln
NM_001324123.3:c.2447T>A	NP_001311052.1:p.Leu816Gln
NM_001324124.3:c.2357T>A	NP_001311053.1:p.Leu786Gln
NM_001324125.3:c.2081T>A	NP_001311054.1:p.Leu694Gln
NM_001324126.3:c.2345T>A	NP_001311055.1:p.Leu782Gln
NM_001033028.3:c.1154T>A	NP_001028200.1:p.Leu385Gln