Canonical Allele Identifier: CA7425132

Gene: CYFIP1

Linked Data

• dbSNP Id: rs745907534
• ExAC: 15:22969356 C / G
• gnomAD v2: 15-22969356-C-G
• gnomAD v4: 15-22903712-G-C
• MyVariant Identifiers: chr15:g.22969356C>G (hg19) ; chr15:g.22903712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903712G>C , CM000677.2:g.22903712G>C	GRCh38
NC_000015.9:g.22969356C>G , CM000677.1:g.22969356C>G	GRCh37
NC_000015.8:g.20520797C>G	NCBI36
NG_054889.1:g.82195C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2576C>G	ENSP00000479802.2:p.Thr859Ser
ENST00000617928.5:c.2582C>G MANE Select	ENSP00000481038.1:p.Thr861Ser
ENST00000610365.4:c.2582C>G	ENSP00000478779.1:p.Thr861Ser
ENST00000617556.4:c.1289C>G	ENSP00000480525.1:p.Thr430Ser
ENST00000617928.4:c.2582C>G	ENSP00000481038.1:p.Thr861Ser
ENST00000619348.4:n.1729C>G
NM_001033028.1:c.1289C>G	NP_001028200.1:p.Thr430Ser
NM_001287810.1:c.2582C>G	NP_001274739.1:p.Thr861Ser
NM_014608.3:c.2582C>G	NP_055423.1:p.Thr861Ser
XM_011543873.1:c.2981C>G	XP_011542175.1:p.Thr994Ser
XM_011543874.1:c.2981C>G	XP_011542176.1:p.Thr994Ser
XM_011543875.1:c.2981C>G	XP_011542177.1:p.Thr994Ser
XM_011543876.1:c.2576C>G	XP_011542178.1:p.Thr859Ser
NM_001033028.2:c.1289C>G	NP_001028200.1:p.Thr430Ser
NM_001287810.3:c.2582C>G	NP_001274739.1:p.Thr861Ser
NM_001324119.2:c.2684C>G	NP_001311048.1:p.Thr895Ser
NM_001324120.2:c.2582C>G	NP_001311049.1:p.Thr861Ser
NM_001324122.2:c.902C>G	NP_001311051.1:p.Thr301Ser
NM_001324123.2:c.2582C>G	NP_001311052.1:p.Thr861Ser
NM_001324124.2:c.2492C>G	NP_001311053.1:p.Thr831Ser
NM_001324125.2:c.2216C>G	NP_001311054.1:p.Thr739Ser
NM_001324126.2:c.2480C>G	NP_001311055.1:p.Thr827Ser
NM_014608.5:c.2582C>G	NP_055423.1:p.Thr861Ser
XM_011543873.3:c.2981C>G	XP_011542175.1:p.Thr994Ser
XM_011543874.2:c.2981C>G	XP_011542176.1:p.Thr994Ser
XM_011543876.3:c.2678C>G	XP_011542178.2:p.Thr893Ser
XM_017022023.2:c.3083C>G	XP_016877512.1:p.Thr1028Ser
XM_017022024.2:c.2981C>G	XP_016877513.1:p.Thr994Ser
XM_024449876.1:c.2981C>G	XP_024305644.1:p.Thr994Ser
XM_024449877.1:c.2582C>G	XP_024305645.1:p.Thr861Ser
NM_014608.6:c.2582C>G MANE Select	NP_055423.1:p.Thr861Ser
NM_001287810.4:c.2582C>G	NP_001274739.1:p.Thr861Ser
NM_001324122.3:c.902C>G	NP_001311051.1:p.Thr301Ser
NM_001324123.3:c.2582C>G	NP_001311052.1:p.Thr861Ser
NM_001324124.3:c.2492C>G	NP_001311053.1:p.Thr831Ser
NM_001324125.3:c.2216C>G	NP_001311054.1:p.Thr739Ser
NM_001324126.3:c.2480C>G	NP_001311055.1:p.Thr827Ser
NM_001033028.3:c.1289C>G	NP_001028200.1:p.Thr430Ser