Canonical Allele Identifier: CA617083423

Gene: CYFIP1

Linked Data

• dbSNP Id: rs1378376916
• gnomAD v2: 15-22969125-A-G
• MyVariant Identifiers: chr15:g.22969125A>G (hg19) ; chr15:g.22903943T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903943T>C , CM000677.2:g.22903943T>C	GRCh38
NC_000015.9:g.22969125A>G , CM000677.1:g.22969125A>G	GRCh37
NC_000015.8:g.20520566A>G	NCBI36
NG_054889.1:g.81964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2383-38A>G	ENSP00000479802.2:n.2383-38A>G
ENST00000617928.5:c.2389-38A>G MANE Select	ENSP00000481038.1:n.2389-38A>G
ENST00000610365.4:c.2389-38A>G	ENSP00000478779.1:n.2389-38A>G
ENST00000617556.4:c.1096-38A>G	ENSP00000480525.1:n.1096-38A>G
ENST00000617928.4:c.2389-38A>G	ENSP00000481038.1:n.2389-38A>G
ENST00000619290.4:n.782-38A>G
ENST00000619348.4:n.1498A>G
NM_001033028.1:c.1096-38A>G	NP_001028200.1:n.1096-38A>G
NM_001287810.1:c.2389-38A>G	NP_001274739.1:n.2389-38A>G
NM_014608.3:c.2389-38A>G	NP_055423.1:n.2389-38A>G
XM_011543873.1:c.2788-38A>G	XP_011542175.1:n.2788-38A>G
XM_011543874.1:c.2788-38A>G	XP_011542176.1:n.2788-38A>G
XM_011543875.1:c.2788-38A>G	XP_011542177.1:n.2788-38A>G
XM_011543876.1:c.2383-38A>G	XP_011542178.1:n.2383-38A>G
NM_001033028.2:c.1096-38A>G	NP_001028200.1:n.1096-38A>G
NM_001287810.3:c.2389-38A>G	NP_001274739.1:n.2389-38A>G
NM_001324119.2:c.2491-38A>G	NP_001311048.1:n.2491-38A>G
NM_001324120.2:c.2389-38A>G	NP_001311049.1:n.2389-38A>G
NM_001324122.2:c.709-38A>G	NP_001311051.1:n.709-38A>G
NM_001324123.2:c.2389-38A>G	NP_001311052.1:n.2389-38A>G
NM_001324124.2:c.2299-38A>G	NP_001311053.1:n.2299-38A>G
NM_001324125.2:c.2023-38A>G	NP_001311054.1:n.2023-38A>G
NM_001324126.2:c.2287-38A>G	NP_001311055.1:n.2287-38A>G
NM_014608.5:c.2389-38A>G	NP_055423.1:n.2389-38A>G
XM_011543873.3:c.2788-38A>G	XP_011542175.1:n.2788-38A>G
XM_011543874.2:c.2788-38A>G	XP_011542176.1:n.2788-38A>G
XM_011543876.3:c.2485-38A>G	XP_011542178.2:n.2485-38A>G
XM_017022023.2:c.2890-38A>G	XP_016877512.1:n.2890-38A>G
XM_017022024.2:c.2788-38A>G	XP_016877513.1:n.2788-38A>G
XM_024449876.1:c.2788-38A>G	XP_024305644.1:n.2788-38A>G
XM_024449877.1:c.2389-38A>G	XP_024305645.1:n.2389-38A>G
NM_014608.6:c.2389-38A>G MANE Select	NP_055423.1:n.2389-38A>G
NM_001287810.4:c.2389-38A>G	NP_001274739.1:n.2389-38A>G
NM_001324122.3:c.709-38A>G	NP_001311051.1:n.709-38A>G
NM_001324123.3:c.2389-38A>G	NP_001311052.1:n.2389-38A>G
NM_001324124.3:c.2299-38A>G	NP_001311053.1:n.2299-38A>G
NM_001324125.3:c.2023-38A>G	NP_001311054.1:n.2023-38A>G
NM_001324126.3:c.2287-38A>G	NP_001311055.1:n.2287-38A>G
NM_001033028.3:c.1096-38A>G	NP_001028200.1:n.1096-38A>G