Canonical Allele Identifier: CA2627257822

Gene: CYFIP1

Linked Data

• gnomAD v4: 15-22903958-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903958G>A , CM000677.2:g.22903958G>A	GRCh38
NC_000015.9:g.22969110C>T , CM000677.1:g.22969110C>T	GRCh37
NC_000015.8:g.20520551C>T	NCBI36
NG_054889.1:g.81949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2383-53C>T	ENSP00000479802.2:n.2383-53C>T
ENST00000617928.5:c.2389-53C>T MANE Select	ENSP00000481038.1:n.2389-53C>T
ENST00000610365.4:c.2389-53C>T	ENSP00000478779.1:n.2389-53C>T
ENST00000617556.4:c.1096-53C>T	ENSP00000480525.1:n.1096-53C>T
ENST00000617928.4:c.2389-53C>T	ENSP00000481038.1:n.2389-53C>T
ENST00000619290.4:n.782-53C>T
ENST00000619348.4:n.1483C>T
NM_001033028.1:c.1096-53C>T	NP_001028200.1:n.1096-53C>T
NM_001287810.1:c.2389-53C>T	NP_001274739.1:n.2389-53C>T
NM_014608.3:c.2389-53C>T	NP_055423.1:n.2389-53C>T
XM_011543873.1:c.2788-53C>T	XP_011542175.1:n.2788-53C>T
XM_011543874.1:c.2788-53C>T	XP_011542176.1:n.2788-53C>T
XM_011543875.1:c.2788-53C>T	XP_011542177.1:n.2788-53C>T
XM_011543876.1:c.2383-53C>T	XP_011542178.1:n.2383-53C>T
NM_001033028.2:c.1096-53C>T	NP_001028200.1:n.1096-53C>T
NM_001287810.3:c.2389-53C>T	NP_001274739.1:n.2389-53C>T
NM_001324119.2:c.2491-53C>T	NP_001311048.1:n.2491-53C>T
NM_001324120.2:c.2389-53C>T	NP_001311049.1:n.2389-53C>T
NM_001324122.2:c.709-53C>T	NP_001311051.1:n.709-53C>T
NM_001324123.2:c.2389-53C>T	NP_001311052.1:n.2389-53C>T
NM_001324124.2:c.2299-53C>T	NP_001311053.1:n.2299-53C>T
NM_001324125.2:c.2023-53C>T	NP_001311054.1:n.2023-53C>T
NM_001324126.2:c.2287-53C>T	NP_001311055.1:n.2287-53C>T
NM_014608.5:c.2389-53C>T	NP_055423.1:n.2389-53C>T
XM_011543873.3:c.2788-53C>T	XP_011542175.1:n.2788-53C>T
XM_011543874.2:c.2788-53C>T	XP_011542176.1:n.2788-53C>T
XM_011543876.3:c.2485-53C>T	XP_011542178.2:n.2485-53C>T
XM_017022023.2:c.2890-53C>T	XP_016877512.1:n.2890-53C>T
XM_017022024.2:c.2788-53C>T	XP_016877513.1:n.2788-53C>T
XM_024449876.1:c.2788-53C>T	XP_024305644.1:n.2788-53C>T
XM_024449877.1:c.2389-53C>T	XP_024305645.1:n.2389-53C>T
NM_014608.6:c.2389-53C>T MANE Select	NP_055423.1:n.2389-53C>T
NM_001287810.4:c.2389-53C>T	NP_001274739.1:n.2389-53C>T
NM_001324122.3:c.709-53C>T	NP_001311051.1:n.709-53C>T
NM_001324123.3:c.2389-53C>T	NP_001311052.1:n.2389-53C>T
NM_001324124.3:c.2299-53C>T	NP_001311053.1:n.2299-53C>T
NM_001324125.3:c.2023-53C>T	NP_001311054.1:n.2023-53C>T
NM_001324126.3:c.2287-53C>T	NP_001311055.1:n.2287-53C>T
NM_001033028.3:c.1096-53C>T	NP_001028200.1:n.1096-53C>T