Canonical Allele Identifier: CA391334550

Gene: CYFIP1

Linked Data

• gnomAD v3: 15-22903812-C-A
• gnomAD v4: 15-22903812-C-A
• MyVariant Identifiers: chr15:g.22969256G>T (hg19) ; chr15:g.22903812C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903812C>A , CM000677.2:g.22903812C>A	GRCh38
NC_000015.9:g.22969256G>T , CM000677.1:g.22969256G>T	GRCh37
NC_000015.8:g.20520697G>T	NCBI36
NG_054889.1:g.82095G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2476G>T	ENSP00000479802.2:p.Ala826Ser
ENST00000617928.5:c.2482G>T MANE Select	ENSP00000481038.1:p.Ala828Ser
ENST00000610365.4:c.2482G>T	ENSP00000478779.1:p.Ala828Ser
ENST00000617556.4:c.1189G>T	ENSP00000480525.1:p.Ala397Ser
ENST00000617928.4:c.2482G>T	ENSP00000481038.1:p.Ala828Ser
ENST00000619290.4:n.875G>T
ENST00000619348.4:n.1629G>T
NM_001033028.1:c.1189G>T	NP_001028200.1:p.Ala397Ser
NM_001287810.1:c.2482G>T	NP_001274739.1:p.Ala828Ser
NM_014608.3:c.2482G>T	NP_055423.1:p.Ala828Ser
XM_011543873.1:c.2881G>T	XP_011542175.1:p.Ala961Ser
XM_011543874.1:c.2881G>T	XP_011542176.1:p.Ala961Ser
XM_011543875.1:c.2881G>T	XP_011542177.1:p.Ala961Ser
XM_011543876.1:c.2476G>T	XP_011542178.1:p.Ala826Ser
NM_001033028.2:c.1189G>T	NP_001028200.1:p.Ala397Ser
NM_001287810.3:c.2482G>T	NP_001274739.1:p.Ala828Ser
NM_001324119.2:c.2584G>T	NP_001311048.1:p.Ala862Ser
NM_001324120.2:c.2482G>T	NP_001311049.1:p.Ala828Ser
NM_001324122.2:c.802G>T	NP_001311051.1:p.Ala268Ser
NM_001324123.2:c.2482G>T	NP_001311052.1:p.Ala828Ser
NM_001324124.2:c.2392G>T	NP_001311053.1:p.Ala798Ser
NM_001324125.2:c.2116G>T	NP_001311054.1:p.Ala706Ser
NM_001324126.2:c.2380G>T	NP_001311055.1:p.Ala794Ser
NM_014608.5:c.2482G>T	NP_055423.1:p.Ala828Ser
XM_011543873.3:c.2881G>T	XP_011542175.1:p.Ala961Ser
XM_011543874.2:c.2881G>T	XP_011542176.1:p.Ala961Ser
XM_011543876.3:c.2578G>T	XP_011542178.2:p.Ala860Ser
XM_017022023.2:c.2983G>T	XP_016877512.1:p.Ala995Ser
XM_017022024.2:c.2881G>T	XP_016877513.1:p.Ala961Ser
XM_024449876.1:c.2881G>T	XP_024305644.1:p.Ala961Ser
XM_024449877.1:c.2482G>T	XP_024305645.1:p.Ala828Ser
NM_014608.6:c.2482G>T MANE Select	NP_055423.1:p.Ala828Ser
NM_001287810.4:c.2482G>T	NP_001274739.1:p.Ala828Ser
NM_001324122.3:c.802G>T	NP_001311051.1:p.Ala268Ser
NM_001324123.3:c.2482G>T	NP_001311052.1:p.Ala828Ser
NM_001324124.3:c.2392G>T	NP_001311053.1:p.Ala798Ser
NM_001324125.3:c.2116G>T	NP_001311054.1:p.Ala706Ser
NM_001324126.3:c.2380G>T	NP_001311055.1:p.Ala794Ser
NM_001033028.3:c.1189G>T	NP_001028200.1:p.Ala397Ser