Canonical Allele Identifier: CA391334489

Gene: CYFIP1

Linked Data

• gnomAD v4: 15-22903797-A-T
• MyVariant Identifiers: chr15:g.22969271T>A (hg19) ; chr15:g.22903797A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903797A>T , CM000677.2:g.22903797A>T	GRCh38
NC_000015.9:g.22969271T>A , CM000677.1:g.22969271T>A	GRCh37
NC_000015.8:g.20520712T>A	NCBI36
NG_054889.1:g.82110T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2491T>A	ENSP00000479802.2:p.Ser831Thr
ENST00000617928.5:c.2497T>A MANE Select	ENSP00000481038.1:p.Ser833Thr
ENST00000610365.4:c.2497T>A	ENSP00000478779.1:p.Ser833Thr
ENST00000617556.4:c.1204T>A	ENSP00000480525.1:p.Ser402Thr
ENST00000617928.4:c.2497T>A	ENSP00000481038.1:p.Ser833Thr
ENST00000619290.4:n.890T>A
ENST00000619348.4:n.1644T>A
NM_001033028.1:c.1204T>A	NP_001028200.1:p.Ser402Thr
NM_001287810.1:c.2497T>A	NP_001274739.1:p.Ser833Thr
NM_014608.3:c.2497T>A	NP_055423.1:p.Ser833Thr
XM_011543873.1:c.2896T>A	XP_011542175.1:p.Ser966Thr
XM_011543874.1:c.2896T>A	XP_011542176.1:p.Ser966Thr
XM_011543875.1:c.2896T>A	XP_011542177.1:p.Ser966Thr
XM_011543876.1:c.2491T>A	XP_011542178.1:p.Ser831Thr
NM_001033028.2:c.1204T>A	NP_001028200.1:p.Ser402Thr
NM_001287810.3:c.2497T>A	NP_001274739.1:p.Ser833Thr
NM_001324119.2:c.2599T>A	NP_001311048.1:p.Ser867Thr
NM_001324120.2:c.2497T>A	NP_001311049.1:p.Ser833Thr
NM_001324122.2:c.817T>A	NP_001311051.1:p.Ser273Thr
NM_001324123.2:c.2497T>A	NP_001311052.1:p.Ser833Thr
NM_001324124.2:c.2407T>A	NP_001311053.1:p.Ser803Thr
NM_001324125.2:c.2131T>A	NP_001311054.1:p.Ser711Thr
NM_001324126.2:c.2395T>A	NP_001311055.1:p.Ser799Thr
NM_014608.5:c.2497T>A	NP_055423.1:p.Ser833Thr
XM_011543873.3:c.2896T>A	XP_011542175.1:p.Ser966Thr
XM_011543874.2:c.2896T>A	XP_011542176.1:p.Ser966Thr
XM_011543876.3:c.2593T>A	XP_011542178.2:p.Ser865Thr
XM_017022023.2:c.2998T>A	XP_016877512.1:p.Ser1000Thr
XM_017022024.2:c.2896T>A	XP_016877513.1:p.Ser966Thr
XM_024449876.1:c.2896T>A	XP_024305644.1:p.Ser966Thr
XM_024449877.1:c.2497T>A	XP_024305645.1:p.Ser833Thr
NM_014608.6:c.2497T>A MANE Select	NP_055423.1:p.Ser833Thr
NM_001287810.4:c.2497T>A	NP_001274739.1:p.Ser833Thr
NM_001324122.3:c.817T>A	NP_001311051.1:p.Ser273Thr
NM_001324123.3:c.2497T>A	NP_001311052.1:p.Ser833Thr
NM_001324124.3:c.2407T>A	NP_001311053.1:p.Ser803Thr
NM_001324125.3:c.2131T>A	NP_001311054.1:p.Ser711Thr
NM_001324126.3:c.2395T>A	NP_001311055.1:p.Ser799Thr
NM_001033028.3:c.1204T>A	NP_001028200.1:p.Ser402Thr