Canonical Allele Identifier: CA7425101

Gene: CYFIP1

Linked Data

• ClinVar Variation Id: 2210887
• ClinVar RCV Id: RCV004079446
• dbSNP Id: rs762867028
• ExAC: 15:22969224 C / T
• gnomAD v2: 15-22969224-C-T
• gnomAD v3: 15-22903844-G-A
• gnomAD v4: 15-22903844-G-A
• MyVariant Identifiers: chr15:g.22969224C>T (hg19) ; chr15:g.22903844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903844G>A , CM000677.2:g.22903844G>A	GRCh38
NC_000015.9:g.22969224C>T , CM000677.1:g.22969224C>T	GRCh37
NC_000015.8:g.20520665C>T	NCBI36
NG_054889.1:g.82063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2444C>T	ENSP00000479802.2:p.Thr815Met
ENST00000617928.5:c.2450C>T MANE Select	ENSP00000481038.1:p.Thr817Met
ENST00000610365.4:c.2450C>T	ENSP00000478779.1:p.Thr817Met
ENST00000617556.4:c.1157C>T	ENSP00000480525.1:p.Thr386Met
ENST00000617928.4:c.2450C>T	ENSP00000481038.1:p.Thr817Met
ENST00000619290.4:n.843C>T
ENST00000619348.4:n.1597C>T
NM_001033028.1:c.1157C>T	NP_001028200.1:p.Thr386Met
NM_001287810.1:c.2450C>T	NP_001274739.1:p.Thr817Met
NM_014608.3:c.2450C>T	NP_055423.1:p.Thr817Met
XM_011543873.1:c.2849C>T	XP_011542175.1:p.Thr950Met
XM_011543874.1:c.2849C>T	XP_011542176.1:p.Thr950Met
XM_011543875.1:c.2849C>T	XP_011542177.1:p.Thr950Met
XM_011543876.1:c.2444C>T	XP_011542178.1:p.Thr815Met
NM_001033028.2:c.1157C>T	NP_001028200.1:p.Thr386Met
NM_001287810.3:c.2450C>T	NP_001274739.1:p.Thr817Met
NM_001324119.2:c.2552C>T	NP_001311048.1:p.Thr851Met
NM_001324120.2:c.2450C>T	NP_001311049.1:p.Thr817Met
NM_001324122.2:c.770C>T	NP_001311051.1:p.Thr257Met
NM_001324123.2:c.2450C>T	NP_001311052.1:p.Thr817Met
NM_001324124.2:c.2360C>T	NP_001311053.1:p.Thr787Met
NM_001324125.2:c.2084C>T	NP_001311054.1:p.Thr695Met
NM_001324126.2:c.2348C>T	NP_001311055.1:p.Thr783Met
NM_014608.5:c.2450C>T	NP_055423.1:p.Thr817Met
XM_011543873.3:c.2849C>T	XP_011542175.1:p.Thr950Met
XM_011543874.2:c.2849C>T	XP_011542176.1:p.Thr950Met
XM_011543876.3:c.2546C>T	XP_011542178.2:p.Thr849Met
XM_017022023.2:c.2951C>T	XP_016877512.1:p.Thr984Met
XM_017022024.2:c.2849C>T	XP_016877513.1:p.Thr950Met
XM_024449876.1:c.2849C>T	XP_024305644.1:p.Thr950Met
XM_024449877.1:c.2450C>T	XP_024305645.1:p.Thr817Met
NM_014608.6:c.2450C>T MANE Select	NP_055423.1:p.Thr817Met
NM_001287810.4:c.2450C>T	NP_001274739.1:p.Thr817Met
NM_001324122.3:c.770C>T	NP_001311051.1:p.Thr257Met
NM_001324123.3:c.2450C>T	NP_001311052.1:p.Thr817Met
NM_001324124.3:c.2360C>T	NP_001311053.1:p.Thr787Met
NM_001324125.3:c.2084C>T	NP_001311054.1:p.Thr695Met
NM_001324126.3:c.2348C>T	NP_001311055.1:p.Thr783Met
NM_001033028.3:c.1157C>T	NP_001028200.1:p.Thr386Met