Canonical Allele Identifier: CA488526487

Gene: CYFIP1

Linked Data

• dbSNP Id: rs2060482174
• gnomAD v4: 15-22903840-C-T
• MyVariant Identifiers: chr15:g.22969228G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903840C>T , CM000677.2:g.22903840C>T	GRCh38
NC_000015.9:g.22969228G>A , CM000677.1:g.22969228G>A	GRCh37
NC_000015.8:g.20520669G>A	NCBI36
NG_054889.1:g.82067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2448G>A	ENSP00000479802.2:p.Leu816=
ENST00000617928.5:c.2454G>A MANE Select	ENSP00000481038.1:p.Leu818=
ENST00000610365.4:c.2454G>A	ENSP00000478779.1:p.Leu818=
ENST00000617556.4:c.1161G>A	ENSP00000480525.1:p.Leu387=
ENST00000617928.4:c.2454G>A	ENSP00000481038.1:p.Leu818=
ENST00000619290.4:n.847G>A
ENST00000619348.4:n.1601G>A
NM_001033028.1:c.1161G>A	NP_001028200.1:p.Leu387=
NM_001287810.1:c.2454G>A	NP_001274739.1:p.Leu818=
NM_014608.3:c.2454G>A	NP_055423.1:p.Leu818=
XM_011543873.1:c.2853G>A	XP_011542175.1:p.Leu951=
XM_011543874.1:c.2853G>A	XP_011542176.1:p.Leu951=
XM_011543875.1:c.2853G>A	XP_011542177.1:p.Leu951=
XM_011543876.1:c.2448G>A	XP_011542178.1:p.Leu816=
NM_001033028.2:c.1161G>A	NP_001028200.1:p.Leu387=
NM_001287810.3:c.2454G>A	NP_001274739.1:p.Leu818=
NM_001324119.2:c.2556G>A	NP_001311048.1:p.Leu852=
NM_001324120.2:c.2454G>A	NP_001311049.1:p.Leu818=
NM_001324122.2:c.774G>A	NP_001311051.1:p.Leu258=
NM_001324123.2:c.2454G>A	NP_001311052.1:p.Leu818=
NM_001324124.2:c.2364G>A	NP_001311053.1:p.Leu788=
NM_001324125.2:c.2088G>A	NP_001311054.1:p.Leu696=
NM_001324126.2:c.2352G>A	NP_001311055.1:p.Leu784=
NM_014608.5:c.2454G>A	NP_055423.1:p.Leu818=
XM_011543873.3:c.2853G>A	XP_011542175.1:p.Leu951=
XM_011543874.2:c.2853G>A	XP_011542176.1:p.Leu951=
XM_011543876.3:c.2550G>A	XP_011542178.2:p.Leu850=
XM_017022023.2:c.2955G>A	XP_016877512.1:p.Leu985=
XM_017022024.2:c.2853G>A	XP_016877513.1:p.Leu951=
XM_024449876.1:c.2853G>A	XP_024305644.1:p.Leu951=
XM_024449877.1:c.2454G>A	XP_024305645.1:p.Leu818=
NM_014608.6:c.2454G>A MANE Select	NP_055423.1:p.Leu818=
NM_001287810.4:c.2454G>A	NP_001274739.1:p.Leu818=
NM_001324122.3:c.774G>A	NP_001311051.1:p.Leu258=
NM_001324123.3:c.2454G>A	NP_001311052.1:p.Leu818=
NM_001324124.3:c.2364G>A	NP_001311053.1:p.Leu788=
NM_001324125.3:c.2088G>A	NP_001311054.1:p.Leu696=
NM_001324126.3:c.2352G>A	NP_001311055.1:p.Leu784=
NM_001033028.3:c.1161G>A	NP_001028200.1:p.Leu387=