Canonical Allele Identifier: CA267616622

Gene: CYFIP1

Linked Data

• ClinVar Variation Id: 2229604
• ClinVar RCV Id: RCV004091614
• dbSNP Id: rs1026752497
• gnomAD v3: 15-22903875-T-C
• gnomAD v4: 15-22903875-T-C
• MyVariant Identifiers: chr15:g.22969193A>G (hg19) ; chr15:g.22903875T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903875T>C , CM000677.2:g.22903875T>C	GRCh38
NC_000015.9:g.22969193A>G , CM000677.1:g.22969193A>G	GRCh37
NC_000015.8:g.20520634A>G	NCBI36
NG_054889.1:g.82032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2413A>G	ENSP00000479802.2:p.Met805Val
ENST00000617928.5:c.2419A>G MANE Select	ENSP00000481038.1:p.Met807Val
ENST00000610365.4:c.2419A>G	ENSP00000478779.1:p.Met807Val
ENST00000617556.4:c.1126A>G	ENSP00000480525.1:p.Met376Val
ENST00000617928.4:c.2419A>G	ENSP00000481038.1:p.Met807Val
ENST00000619290.4:n.812A>G
ENST00000619348.4:n.1566A>G
NM_001033028.1:c.1126A>G	NP_001028200.1:p.Met376Val
NM_001287810.1:c.2419A>G	NP_001274739.1:p.Met807Val
NM_014608.3:c.2419A>G	NP_055423.1:p.Met807Val
XM_011543873.1:c.2818A>G	XP_011542175.1:p.Met940Val
XM_011543874.1:c.2818A>G	XP_011542176.1:p.Met940Val
XM_011543875.1:c.2818A>G	XP_011542177.1:p.Met940Val
XM_011543876.1:c.2413A>G	XP_011542178.1:p.Met805Val
NM_001033028.2:c.1126A>G	NP_001028200.1:p.Met376Val
NM_001287810.3:c.2419A>G	NP_001274739.1:p.Met807Val
NM_001324119.2:c.2521A>G	NP_001311048.1:p.Met841Val
NM_001324120.2:c.2419A>G	NP_001311049.1:p.Met807Val
NM_001324122.2:c.739A>G	NP_001311051.1:p.Met247Val
NM_001324123.2:c.2419A>G	NP_001311052.1:p.Met807Val
NM_001324124.2:c.2329A>G	NP_001311053.1:p.Met777Val
NM_001324125.2:c.2053A>G	NP_001311054.1:p.Met685Val
NM_001324126.2:c.2317A>G	NP_001311055.1:p.Met773Val
NM_014608.5:c.2419A>G	NP_055423.1:p.Met807Val
XM_011543873.3:c.2818A>G	XP_011542175.1:p.Met940Val
XM_011543874.2:c.2818A>G	XP_011542176.1:p.Met940Val
XM_011543876.3:c.2515A>G	XP_011542178.2:p.Met839Val
XM_017022023.2:c.2920A>G	XP_016877512.1:p.Met974Val
XM_017022024.2:c.2818A>G	XP_016877513.1:p.Met940Val
XM_024449876.1:c.2818A>G	XP_024305644.1:p.Met940Val
XM_024449877.1:c.2419A>G	XP_024305645.1:p.Met807Val
NM_014608.6:c.2419A>G MANE Select	NP_055423.1:p.Met807Val
NM_001287810.4:c.2419A>G	NP_001274739.1:p.Met807Val
NM_001324122.3:c.739A>G	NP_001311051.1:p.Met247Val
NM_001324123.3:c.2419A>G	NP_001311052.1:p.Met807Val
NM_001324124.3:c.2329A>G	NP_001311053.1:p.Met777Val
NM_001324125.3:c.2053A>G	NP_001311054.1:p.Met685Val
NM_001324126.3:c.2317A>G	NP_001311055.1:p.Met773Val
NM_001033028.3:c.1126A>G	NP_001028200.1:p.Met376Val