Canonical Allele Identifier: CA2575648563

Gene: CYFIP1

Linked Data

• gnomAD v4: 15-22903643-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903643C>A , CM000677.2:g.22903643C>A	GRCh38
NC_000015.9:g.22969425G>T , CM000677.1:g.22969425G>T	GRCh37
NC_000015.8:g.20520866G>T	NCBI36
NG_054889.1:g.82264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2582+63G>T	ENSP00000479802.2:n.2582+63G>T
ENST00000617928.5:c.2588+63G>T MANE Select	ENSP00000481038.1:n.2588+63G>T
ENST00000610365.4:c.2588+63G>T	ENSP00000478779.1:n.2588+63G>T
ENST00000617556.4:c.1295+63G>T	ENSP00000480525.1:n.1295+63G>T
ENST00000617928.4:c.2588+63G>T	ENSP00000481038.1:n.2588+63G>T
ENST00000619348.4:n.1735+63G>T
NM_001033028.1:c.1295+63G>T	NP_001028200.1:n.1295+63G>T
NM_001287810.1:c.2588+63G>T	NP_001274739.1:n.2588+63G>T
NM_014608.3:c.2588+63G>T	NP_055423.1:n.2588+63G>T
XM_011543873.1:c.2987+63G>T	XP_011542175.1:n.2987+63G>T
XM_011543874.1:c.2987+63G>T	XP_011542176.1:n.2987+63G>T
XM_011543875.1:c.2987+63G>T	XP_011542177.1:n.2987+63G>T
XM_011543876.1:c.2582+63G>T	XP_011542178.1:n.2582+63G>T
NM_001033028.2:c.1295+63G>T	NP_001028200.1:n.1295+63G>T
NM_001287810.3:c.2588+63G>T	NP_001274739.1:n.2588+63G>T
NM_001324119.2:c.2690+63G>T	NP_001311048.1:n.2690+63G>T
NM_001324120.2:c.2588+63G>T	NP_001311049.1:n.2588+63G>T
NM_001324122.2:c.908+63G>T	NP_001311051.1:n.908+63G>T
NM_001324123.2:c.2588+63G>T	NP_001311052.1:n.2588+63G>T
NM_001324124.2:c.2498+63G>T	NP_001311053.1:n.2498+63G>T
NM_001324125.2:c.2222+63G>T	NP_001311054.1:n.2222+63G>T
NM_001324126.2:c.2486+63G>T	NP_001311055.1:n.2486+63G>T
NM_014608.5:c.2588+63G>T	NP_055423.1:n.2588+63G>T
XM_011543873.3:c.2987+63G>T	XP_011542175.1:n.2987+63G>T
XM_011543874.2:c.2987+63G>T	XP_011542176.1:n.2987+63G>T
XM_011543876.3:c.2684+63G>T	XP_011542178.2:n.2684+63G>T
XM_017022023.2:c.3089+63G>T	XP_016877512.1:n.3089+63G>T
XM_017022024.2:c.2987+63G>T	XP_016877513.1:n.2987+63G>T
XM_024449876.1:c.2987+63G>T	XP_024305644.1:n.2987+63G>T
XM_024449877.1:c.2588+63G>T	XP_024305645.1:n.2588+63G>T
NM_014608.6:c.2588+63G>T MANE Select	NP_055423.1:n.2588+63G>T
NM_001287810.4:c.2588+63G>T	NP_001274739.1:n.2588+63G>T
NM_001324122.3:c.908+63G>T	NP_001311051.1:n.908+63G>T
NM_001324123.3:c.2588+63G>T	NP_001311052.1:n.2588+63G>T
NM_001324124.3:c.2498+63G>T	NP_001311053.1:n.2498+63G>T
NM_001324125.3:c.2222+63G>T	NP_001311054.1:n.2222+63G>T
NM_001324126.3:c.2486+63G>T	NP_001311055.1:n.2486+63G>T
NM_001033028.3:c.1295+63G>T	NP_001028200.1:n.1295+63G>T