Canonical Allele Identifier: CA391334315

Gene: CYFIP1

Linked Data

• dbSNP Id: rs1269503010
• gnomAD v3: 15-22903755-G-A
• gnomAD v4: 15-22903755-G-A
• MyVariant Identifiers: chr15:g.22969313C>T (hg19) ; chr15:g.22903755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903755G>A , CM000677.2:g.22903755G>A	GRCh38
NC_000015.9:g.22969313C>T , CM000677.1:g.22969313C>T	GRCh37
NC_000015.8:g.20520754C>T	NCBI36
NG_054889.1:g.82152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2533C>T	ENSP00000479802.2:p.Leu845Phe
ENST00000617928.5:c.2539C>T MANE Select	ENSP00000481038.1:p.Leu847Phe
ENST00000610365.4:c.2539C>T	ENSP00000478779.1:p.Leu847Phe
ENST00000617556.4:c.1246C>T	ENSP00000480525.1:p.Leu416Phe
ENST00000617928.4:c.2539C>T	ENSP00000481038.1:p.Leu847Phe
ENST00000619348.4:n.1686C>T
NM_001033028.1:c.1246C>T	NP_001028200.1:p.Leu416Phe
NM_001287810.1:c.2539C>T	NP_001274739.1:p.Leu847Phe
NM_014608.3:c.2539C>T	NP_055423.1:p.Leu847Phe
XM_011543873.1:c.2938C>T	XP_011542175.1:p.Leu980Phe
XM_011543874.1:c.2938C>T	XP_011542176.1:p.Leu980Phe
XM_011543875.1:c.2938C>T	XP_011542177.1:p.Leu980Phe
XM_011543876.1:c.2533C>T	XP_011542178.1:p.Leu845Phe
NM_001033028.2:c.1246C>T	NP_001028200.1:p.Leu416Phe
NM_001287810.3:c.2539C>T	NP_001274739.1:p.Leu847Phe
NM_001324119.2:c.2641C>T	NP_001311048.1:p.Leu881Phe
NM_001324120.2:c.2539C>T	NP_001311049.1:p.Leu847Phe
NM_001324122.2:c.859C>T	NP_001311051.1:p.Leu287Phe
NM_001324123.2:c.2539C>T	NP_001311052.1:p.Leu847Phe
NM_001324124.2:c.2449C>T	NP_001311053.1:p.Leu817Phe
NM_001324125.2:c.2173C>T	NP_001311054.1:p.Leu725Phe
NM_001324126.2:c.2437C>T	NP_001311055.1:p.Leu813Phe
NM_014608.5:c.2539C>T	NP_055423.1:p.Leu847Phe
XM_011543873.3:c.2938C>T	XP_011542175.1:p.Leu980Phe
XM_011543874.2:c.2938C>T	XP_011542176.1:p.Leu980Phe
XM_011543876.3:c.2635C>T	XP_011542178.2:p.Leu879Phe
XM_017022023.2:c.3040C>T	XP_016877512.1:p.Leu1014Phe
XM_017022024.2:c.2938C>T	XP_016877513.1:p.Leu980Phe
XM_024449876.1:c.2938C>T	XP_024305644.1:p.Leu980Phe
XM_024449877.1:c.2539C>T	XP_024305645.1:p.Leu847Phe
NM_014608.6:c.2539C>T MANE Select	NP_055423.1:p.Leu847Phe
NM_001287810.4:c.2539C>T	NP_001274739.1:p.Leu847Phe
NM_001324122.3:c.859C>T	NP_001311051.1:p.Leu287Phe
NM_001324123.3:c.2539C>T	NP_001311052.1:p.Leu847Phe
NM_001324124.3:c.2449C>T	NP_001311053.1:p.Leu817Phe
NM_001324125.3:c.2173C>T	NP_001311054.1:p.Leu725Phe
NM_001324126.3:c.2437C>T	NP_001311055.1:p.Leu813Phe
NM_001033028.3:c.1246C>T	NP_001028200.1:p.Leu416Phe