Canonical Allele Identifier: CA391334731

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969209T>A (hg19) ; chr15:g.22903859A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903859A>T , CM000677.2:g.22903859A>T	GRCh38
NC_000015.9:g.22969209T>A , CM000677.1:g.22969209T>A	GRCh37
NC_000015.8:g.20520650T>A	NCBI36
NG_054889.1:g.82048T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2429T>A	ENSP00000479802.2:p.Leu810Gln
ENST00000617928.5:c.2435T>A MANE Select	ENSP00000481038.1:p.Leu812Gln
ENST00000610365.4:c.2435T>A	ENSP00000478779.1:p.Leu812Gln
ENST00000617556.4:c.1142T>A	ENSP00000480525.1:p.Leu381Gln
ENST00000617928.4:c.2435T>A	ENSP00000481038.1:p.Leu812Gln
ENST00000619290.4:n.828T>A
ENST00000619348.4:n.1582T>A
NM_001033028.1:c.1142T>A	NP_001028200.1:p.Leu381Gln
NM_001287810.1:c.2435T>A	NP_001274739.1:p.Leu812Gln
NM_014608.3:c.2435T>A	NP_055423.1:p.Leu812Gln
XM_011543873.1:c.2834T>A	XP_011542175.1:p.Leu945Gln
XM_011543874.1:c.2834T>A	XP_011542176.1:p.Leu945Gln
XM_011543875.1:c.2834T>A	XP_011542177.1:p.Leu945Gln
XM_011543876.1:c.2429T>A	XP_011542178.1:p.Leu810Gln
NM_001033028.2:c.1142T>A	NP_001028200.1:p.Leu381Gln
NM_001287810.3:c.2435T>A	NP_001274739.1:p.Leu812Gln
NM_001324119.2:c.2537T>A	NP_001311048.1:p.Leu846Gln
NM_001324120.2:c.2435T>A	NP_001311049.1:p.Leu812Gln
NM_001324122.2:c.755T>A	NP_001311051.1:p.Leu252Gln
NM_001324123.2:c.2435T>A	NP_001311052.1:p.Leu812Gln
NM_001324124.2:c.2345T>A	NP_001311053.1:p.Leu782Gln
NM_001324125.2:c.2069T>A	NP_001311054.1:p.Leu690Gln
NM_001324126.2:c.2333T>A	NP_001311055.1:p.Leu778Gln
NM_014608.5:c.2435T>A	NP_055423.1:p.Leu812Gln
XM_011543873.3:c.2834T>A	XP_011542175.1:p.Leu945Gln
XM_011543874.2:c.2834T>A	XP_011542176.1:p.Leu945Gln
XM_011543876.3:c.2531T>A	XP_011542178.2:p.Leu844Gln
XM_017022023.2:c.2936T>A	XP_016877512.1:p.Leu979Gln
XM_017022024.2:c.2834T>A	XP_016877513.1:p.Leu945Gln
XM_024449876.1:c.2834T>A	XP_024305644.1:p.Leu945Gln
XM_024449877.1:c.2435T>A	XP_024305645.1:p.Leu812Gln
NM_014608.6:c.2435T>A MANE Select	NP_055423.1:p.Leu812Gln
NM_001287810.4:c.2435T>A	NP_001274739.1:p.Leu812Gln
NM_001324122.3:c.755T>A	NP_001311051.1:p.Leu252Gln
NM_001324123.3:c.2435T>A	NP_001311052.1:p.Leu812Gln
NM_001324124.3:c.2345T>A	NP_001311053.1:p.Leu782Gln
NM_001324125.3:c.2069T>A	NP_001311054.1:p.Leu690Gln
NM_001324126.3:c.2333T>A	NP_001311055.1:p.Leu778Gln
NM_001033028.3:c.1142T>A	NP_001028200.1:p.Leu381Gln