Canonical Allele Identifier: CA488526510

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969192C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903876G>C , CM000677.2:g.22903876G>C	GRCh38
NC_000015.9:g.22969192C>G , CM000677.1:g.22969192C>G	GRCh37
NC_000015.8:g.20520633C>G	NCBI36
NG_054889.1:g.82031C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2412C>G	ENSP00000479802.2:p.Arg804=
ENST00000617928.5:c.2418C>G MANE Select	ENSP00000481038.1:p.Arg806=
ENST00000610365.4:c.2418C>G	ENSP00000478779.1:p.Arg806=
ENST00000617556.4:c.1125C>G	ENSP00000480525.1:p.Arg375=
ENST00000617928.4:c.2418C>G	ENSP00000481038.1:p.Arg806=
ENST00000619290.4:n.811C>G
ENST00000619348.4:n.1565C>G
NM_001033028.1:c.1125C>G	NP_001028200.1:p.Arg375=
NM_001287810.1:c.2418C>G	NP_001274739.1:p.Arg806=
NM_014608.3:c.2418C>G	NP_055423.1:p.Arg806=
XM_011543873.1:c.2817C>G	XP_011542175.1:p.Arg939=
XM_011543874.1:c.2817C>G	XP_011542176.1:p.Arg939=
XM_011543875.1:c.2817C>G	XP_011542177.1:p.Arg939=
XM_011543876.1:c.2412C>G	XP_011542178.1:p.Arg804=
NM_001033028.2:c.1125C>G	NP_001028200.1:p.Arg375=
NM_001287810.3:c.2418C>G	NP_001274739.1:p.Arg806=
NM_001324119.2:c.2520C>G	NP_001311048.1:p.Arg840=
NM_001324120.2:c.2418C>G	NP_001311049.1:p.Arg806=
NM_001324122.2:c.738C>G	NP_001311051.1:p.Arg246=
NM_001324123.2:c.2418C>G	NP_001311052.1:p.Arg806=
NM_001324124.2:c.2328C>G	NP_001311053.1:p.Arg776=
NM_001324125.2:c.2052C>G	NP_001311054.1:p.Arg684=
NM_001324126.2:c.2316C>G	NP_001311055.1:p.Arg772=
NM_014608.5:c.2418C>G	NP_055423.1:p.Arg806=
XM_011543873.3:c.2817C>G	XP_011542175.1:p.Arg939=
XM_011543874.2:c.2817C>G	XP_011542176.1:p.Arg939=
XM_011543876.3:c.2514C>G	XP_011542178.2:p.Arg838=
XM_017022023.2:c.2919C>G	XP_016877512.1:p.Arg973=
XM_017022024.2:c.2817C>G	XP_016877513.1:p.Arg939=
XM_024449876.1:c.2817C>G	XP_024305644.1:p.Arg939=
XM_024449877.1:c.2418C>G	XP_024305645.1:p.Arg806=
NM_014608.6:c.2418C>G MANE Select	NP_055423.1:p.Arg806=
NM_001287810.4:c.2418C>G	NP_001274739.1:p.Arg806=
NM_001324122.3:c.738C>G	NP_001311051.1:p.Arg246=
NM_001324123.3:c.2418C>G	NP_001311052.1:p.Arg806=
NM_001324124.3:c.2328C>G	NP_001311053.1:p.Arg776=
NM_001324125.3:c.2052C>G	NP_001311054.1:p.Arg684=
NM_001324126.3:c.2316C>G	NP_001311055.1:p.Arg772=
NM_001033028.3:c.1125C>G	NP_001028200.1:p.Arg375=