Canonical Allele Identifier: CA391334658

Gene: CYFIP1

Linked Data

• gnomAD v4: 15-22903839-C-G
• MyVariant Identifiers: chr15:g.22969229G>C (hg19) ; chr15:g.22903839C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903839C>G , CM000677.2:g.22903839C>G	GRCh38
NC_000015.9:g.22969229G>C , CM000677.1:g.22969229G>C	GRCh37
NC_000015.8:g.20520670G>C	NCBI36
NG_054889.1:g.82068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2449G>C	ENSP00000479802.2:p.Asp817His
ENST00000617928.5:c.2455G>C MANE Select	ENSP00000481038.1:p.Asp819His
ENST00000610365.4:c.2455G>C	ENSP00000478779.1:p.Asp819His
ENST00000617556.4:c.1162G>C	ENSP00000480525.1:p.Asp388His
ENST00000617928.4:c.2455G>C	ENSP00000481038.1:p.Asp819His
ENST00000619290.4:n.848G>C
ENST00000619348.4:n.1602G>C
NM_001033028.1:c.1162G>C	NP_001028200.1:p.Asp388His
NM_001287810.1:c.2455G>C	NP_001274739.1:p.Asp819His
NM_014608.3:c.2455G>C	NP_055423.1:p.Asp819His
XM_011543873.1:c.2854G>C	XP_011542175.1:p.Asp952His
XM_011543874.1:c.2854G>C	XP_011542176.1:p.Asp952His
XM_011543875.1:c.2854G>C	XP_011542177.1:p.Asp952His
XM_011543876.1:c.2449G>C	XP_011542178.1:p.Asp817His
NM_001033028.2:c.1162G>C	NP_001028200.1:p.Asp388His
NM_001287810.3:c.2455G>C	NP_001274739.1:p.Asp819His
NM_001324119.2:c.2557G>C	NP_001311048.1:p.Asp853His
NM_001324120.2:c.2455G>C	NP_001311049.1:p.Asp819His
NM_001324122.2:c.775G>C	NP_001311051.1:p.Asp259His
NM_001324123.2:c.2455G>C	NP_001311052.1:p.Asp819His
NM_001324124.2:c.2365G>C	NP_001311053.1:p.Asp789His
NM_001324125.2:c.2089G>C	NP_001311054.1:p.Asp697His
NM_001324126.2:c.2353G>C	NP_001311055.1:p.Asp785His
NM_014608.5:c.2455G>C	NP_055423.1:p.Asp819His
XM_011543873.3:c.2854G>C	XP_011542175.1:p.Asp952His
XM_011543874.2:c.2854G>C	XP_011542176.1:p.Asp952His
XM_011543876.3:c.2551G>C	XP_011542178.2:p.Asp851His
XM_017022023.2:c.2956G>C	XP_016877512.1:p.Asp986His
XM_017022024.2:c.2854G>C	XP_016877513.1:p.Asp952His
XM_024449876.1:c.2854G>C	XP_024305644.1:p.Asp952His
XM_024449877.1:c.2455G>C	XP_024305645.1:p.Asp819His
NM_014608.6:c.2455G>C MANE Select	NP_055423.1:p.Asp819His
NM_001287810.4:c.2455G>C	NP_001274739.1:p.Asp819His
NM_001324122.3:c.775G>C	NP_001311051.1:p.Asp259His
NM_001324123.3:c.2455G>C	NP_001311052.1:p.Asp819His
NM_001324124.3:c.2365G>C	NP_001311053.1:p.Asp789His
NM_001324125.3:c.2089G>C	NP_001311054.1:p.Asp697His
NM_001324126.3:c.2353G>C	NP_001311055.1:p.Asp785His
NM_001033028.3:c.1162G>C	NP_001028200.1:p.Asp388His