Canonical Allele Identifier: CA391334669

Gene: CYFIP1

Linked Data

• dbSNP Id: rs1199747104
• gnomAD v2: 15-22969226-C-A
• gnomAD v4: 15-22903842-G-T
• MyVariant Identifiers: chr15:g.22969226C>A (hg19) ; chr15:g.22903842G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903842G>T , CM000677.2:g.22903842G>T	GRCh38
NC_000015.9:g.22969226C>A , CM000677.1:g.22969226C>A	GRCh37
NC_000015.8:g.20520667C>A	NCBI36
NG_054889.1:g.82065C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2446C>A	ENSP00000479802.2:p.Leu816Met
ENST00000617928.5:c.2452C>A MANE Select	ENSP00000481038.1:p.Leu818Met
ENST00000610365.4:c.2452C>A	ENSP00000478779.1:p.Leu818Met
ENST00000617556.4:c.1159C>A	ENSP00000480525.1:p.Leu387Met
ENST00000617928.4:c.2452C>A	ENSP00000481038.1:p.Leu818Met
ENST00000619290.4:n.845C>A
ENST00000619348.4:n.1599C>A
NM_001033028.1:c.1159C>A	NP_001028200.1:p.Leu387Met
NM_001287810.1:c.2452C>A	NP_001274739.1:p.Leu818Met
NM_014608.3:c.2452C>A	NP_055423.1:p.Leu818Met
XM_011543873.1:c.2851C>A	XP_011542175.1:p.Leu951Met
XM_011543874.1:c.2851C>A	XP_011542176.1:p.Leu951Met
XM_011543875.1:c.2851C>A	XP_011542177.1:p.Leu951Met
XM_011543876.1:c.2446C>A	XP_011542178.1:p.Leu816Met
NM_001033028.2:c.1159C>A	NP_001028200.1:p.Leu387Met
NM_001287810.3:c.2452C>A	NP_001274739.1:p.Leu818Met
NM_001324119.2:c.2554C>A	NP_001311048.1:p.Leu852Met
NM_001324120.2:c.2452C>A	NP_001311049.1:p.Leu818Met
NM_001324122.2:c.772C>A	NP_001311051.1:p.Leu258Met
NM_001324123.2:c.2452C>A	NP_001311052.1:p.Leu818Met
NM_001324124.2:c.2362C>A	NP_001311053.1:p.Leu788Met
NM_001324125.2:c.2086C>A	NP_001311054.1:p.Leu696Met
NM_001324126.2:c.2350C>A	NP_001311055.1:p.Leu784Met
NM_014608.5:c.2452C>A	NP_055423.1:p.Leu818Met
XM_011543873.3:c.2851C>A	XP_011542175.1:p.Leu951Met
XM_011543874.2:c.2851C>A	XP_011542176.1:p.Leu951Met
XM_011543876.3:c.2548C>A	XP_011542178.2:p.Leu850Met
XM_017022023.2:c.2953C>A	XP_016877512.1:p.Leu985Met
XM_017022024.2:c.2851C>A	XP_016877513.1:p.Leu951Met
XM_024449876.1:c.2851C>A	XP_024305644.1:p.Leu951Met
XM_024449877.1:c.2452C>A	XP_024305645.1:p.Leu818Met
NM_014608.6:c.2452C>A MANE Select	NP_055423.1:p.Leu818Met
NM_001287810.4:c.2452C>A	NP_001274739.1:p.Leu818Met
NM_001324122.3:c.772C>A	NP_001311051.1:p.Leu258Met
NM_001324123.3:c.2452C>A	NP_001311052.1:p.Leu818Met
NM_001324124.3:c.2362C>A	NP_001311053.1:p.Leu788Met
NM_001324125.3:c.2086C>A	NP_001311054.1:p.Leu696Met
NM_001324126.3:c.2350C>A	NP_001311055.1:p.Leu784Met
NM_001033028.3:c.1159C>A	NP_001028200.1:p.Leu387Met