Canonical Allele Identifier: CA711264950

Gene: CYFIP1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22896157C>G , CM000677.2:g.22896157C>G	GRCh38
NC_000015.9:g.22976911G>C , CM000677.1:g.22976911G>C	GRCh37
NC_000015.8:g.20528352G>C	NCBI36
NG_054889.1:g.89750G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2583-3180G>C	ENSP00000479802.2:n.2583-3180G>C
ENST00000617928.5:c.2589-3180G>C MANE Select	ENSP00000481038.1:n.2589-3180G>C
ENST00000610365.4:c.2589-3180G>C	ENSP00000478779.1:n.2589-3180G>C
ENST00000617556.4:c.1296-3180G>C	ENSP00000480525.1:n.1296-3180G>C
ENST00000617928.4:c.2589-3180G>C	ENSP00000481038.1:n.2589-3180G>C
ENST00000619348.4:n.1736-3180G>C
NM_001033028.1:c.1296-3180G>C	NP_001028200.1:n.1296-3180G>C
NM_001287810.1:c.2589-3180G>C	NP_001274739.1:n.2589-3180G>C
NM_014608.3:c.2589-3180G>C	NP_055423.1:n.2589-3180G>C
XM_011543873.1:c.2988-3180G>C	XP_011542175.1:n.2988-3180G>C
XM_011543874.1:c.2988-3180G>C	XP_011542176.1:n.2988-3180G>C
XM_011543875.1:c.2988-3180G>C	XP_011542177.1:n.2988-3180G>C
XM_011543876.1:c.2583-3180G>C	XP_011542178.1:n.2583-3180G>C
NM_001033028.2:c.1296-3180G>C	NP_001028200.1:n.1296-3180G>C
NM_001287810.3:c.2589-3180G>C	NP_001274739.1:n.2589-3180G>C
NM_001324119.2:c.2691-3180G>C	NP_001311048.1:n.2691-3180G>C
NM_001324120.2:c.2589-3180G>C	NP_001311049.1:n.2589-3180G>C
NM_001324122.2:c.909-3180G>C	NP_001311051.1:n.909-3180G>C
NM_001324123.2:c.2589-3180G>C	NP_001311052.1:n.2589-3180G>C
NM_001324124.2:c.2499-3180G>C	NP_001311053.1:n.2499-3180G>C
NM_001324125.2:c.2223-3180G>C	NP_001311054.1:n.2223-3180G>C
NM_001324126.2:c.2487-3180G>C	NP_001311055.1:n.2487-3180G>C
NM_014608.5:c.2589-3180G>C	NP_055423.1:n.2589-3180G>C
XM_011543873.3:c.2988-3180G>C	XP_011542175.1:n.2988-3180G>C
XM_011543874.2:c.2988-3180G>C	XP_011542176.1:n.2988-3180G>C
XM_011543876.3:c.2685-3180G>C	XP_011542178.2:n.2685-3180G>C
XM_017022023.2:c.3090-3180G>C	XP_016877512.1:n.3090-3180G>C
XM_017022024.2:c.2988-3180G>C	XP_016877513.1:n.2988-3180G>C
XM_024449876.1:c.2988-3180G>C	XP_024305644.1:n.2988-3180G>C
XM_024449877.1:c.2589-3180G>C	XP_024305645.1:n.2589-3180G>C
NM_014608.6:c.2589-3180G>C MANE Select	NP_055423.1:n.2589-3180G>C
NM_001287810.4:c.2589-3180G>C	NP_001274739.1:n.2589-3180G>C
NM_001324122.3:c.909-3180G>C	NP_001311051.1:n.909-3180G>C
NM_001324123.3:c.2589-3180G>C	NP_001311052.1:n.2589-3180G>C
NM_001324124.3:c.2499-3180G>C	NP_001311053.1:n.2499-3180G>C
NM_001324125.3:c.2223-3180G>C	NP_001311054.1:n.2223-3180G>C
NM_001324126.3:c.2487-3180G>C	NP_001311055.1:n.2487-3180G>C
NM_001033028.3:c.1296-3180G>C	NP_001028200.1:n.1296-3180G>C