Canonical Allele Identifier: CA391334447

Gene: CYFIP1

Linked Data

• dbSNP Id: rs1264183179
• gnomAD v2: 15-22969281-A-T
• gnomAD v4: 15-22903787-T-A
• MyVariant Identifiers: chr15:g.22969281A>T (hg19) ; chr15:g.22903787T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903787T>A , CM000677.2:g.22903787T>A	GRCh38
NC_000015.9:g.22969281A>T , CM000677.1:g.22969281A>T	GRCh37
NC_000015.8:g.20520722A>T	NCBI36
NG_054889.1:g.82120A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2501A>T	ENSP00000479802.2:p.Tyr834Phe
ENST00000617928.5:c.2507A>T MANE Select	ENSP00000481038.1:p.Tyr836Phe
ENST00000610365.4:c.2507A>T	ENSP00000478779.1:p.Tyr836Phe
ENST00000617556.4:c.1214A>T	ENSP00000480525.1:p.Tyr405Phe
ENST00000617928.4:c.2507A>T	ENSP00000481038.1:p.Tyr836Phe
ENST00000619290.4:n.900A>T
ENST00000619348.4:n.1654A>T
NM_001033028.1:c.1214A>T	NP_001028200.1:p.Tyr405Phe
NM_001287810.1:c.2507A>T	NP_001274739.1:p.Tyr836Phe
NM_014608.3:c.2507A>T	NP_055423.1:p.Tyr836Phe
XM_011543873.1:c.2906A>T	XP_011542175.1:p.Tyr969Phe
XM_011543874.1:c.2906A>T	XP_011542176.1:p.Tyr969Phe
XM_011543875.1:c.2906A>T	XP_011542177.1:p.Tyr969Phe
XM_011543876.1:c.2501A>T	XP_011542178.1:p.Tyr834Phe
NM_001033028.2:c.1214A>T	NP_001028200.1:p.Tyr405Phe
NM_001287810.3:c.2507A>T	NP_001274739.1:p.Tyr836Phe
NM_001324119.2:c.2609A>T	NP_001311048.1:p.Tyr870Phe
NM_001324120.2:c.2507A>T	NP_001311049.1:p.Tyr836Phe
NM_001324122.2:c.827A>T	NP_001311051.1:p.Tyr276Phe
NM_001324123.2:c.2507A>T	NP_001311052.1:p.Tyr836Phe
NM_001324124.2:c.2417A>T	NP_001311053.1:p.Tyr806Phe
NM_001324125.2:c.2141A>T	NP_001311054.1:p.Tyr714Phe
NM_001324126.2:c.2405A>T	NP_001311055.1:p.Tyr802Phe
NM_014608.5:c.2507A>T	NP_055423.1:p.Tyr836Phe
XM_011543873.3:c.2906A>T	XP_011542175.1:p.Tyr969Phe
XM_011543874.2:c.2906A>T	XP_011542176.1:p.Tyr969Phe
XM_011543876.3:c.2603A>T	XP_011542178.2:p.Tyr868Phe
XM_017022023.2:c.3008A>T	XP_016877512.1:p.Tyr1003Phe
XM_017022024.2:c.2906A>T	XP_016877513.1:p.Tyr969Phe
XM_024449876.1:c.2906A>T	XP_024305644.1:p.Tyr969Phe
XM_024449877.1:c.2507A>T	XP_024305645.1:p.Tyr836Phe
NM_014608.6:c.2507A>T MANE Select	NP_055423.1:p.Tyr836Phe
NM_001287810.4:c.2507A>T	NP_001274739.1:p.Tyr836Phe
NM_001324122.3:c.827A>T	NP_001311051.1:p.Tyr276Phe
NM_001324123.3:c.2507A>T	NP_001311052.1:p.Tyr836Phe
NM_001324124.3:c.2417A>T	NP_001311053.1:p.Tyr806Phe
NM_001324125.3:c.2141A>T	NP_001311054.1:p.Tyr714Phe
NM_001324126.3:c.2405A>T	NP_001311055.1:p.Tyr802Phe
NM_001033028.3:c.1214A>T	NP_001028200.1:p.Tyr405Phe