Canonical Allele Identifier: CA391334753

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969203A>C (hg19) ; chr15:g.22903865T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903865T>G , CM000677.2:g.22903865T>G	GRCh38
NC_000015.9:g.22969203A>C , CM000677.1:g.22969203A>C	GRCh37
NC_000015.8:g.20520644A>C	NCBI36
NG_054889.1:g.82042A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2423A>C	ENSP00000479802.2:p.Lys808Thr
ENST00000617928.5:c.2429A>C MANE Select	ENSP00000481038.1:p.Lys810Thr
ENST00000610365.4:c.2429A>C	ENSP00000478779.1:p.Lys810Thr
ENST00000617556.4:c.1136A>C	ENSP00000480525.1:p.Lys379Thr
ENST00000617928.4:c.2429A>C	ENSP00000481038.1:p.Lys810Thr
ENST00000619290.4:n.822A>C
ENST00000619348.4:n.1576A>C
NM_001033028.1:c.1136A>C	NP_001028200.1:p.Lys379Thr
NM_001287810.1:c.2429A>C	NP_001274739.1:p.Lys810Thr
NM_014608.3:c.2429A>C	NP_055423.1:p.Lys810Thr
XM_011543873.1:c.2828A>C	XP_011542175.1:p.Lys943Thr
XM_011543874.1:c.2828A>C	XP_011542176.1:p.Lys943Thr
XM_011543875.1:c.2828A>C	XP_011542177.1:p.Lys943Thr
XM_011543876.1:c.2423A>C	XP_011542178.1:p.Lys808Thr
NM_001033028.2:c.1136A>C	NP_001028200.1:p.Lys379Thr
NM_001287810.3:c.2429A>C	NP_001274739.1:p.Lys810Thr
NM_001324119.2:c.2531A>C	NP_001311048.1:p.Lys844Thr
NM_001324120.2:c.2429A>C	NP_001311049.1:p.Lys810Thr
NM_001324122.2:c.749A>C	NP_001311051.1:p.Lys250Thr
NM_001324123.2:c.2429A>C	NP_001311052.1:p.Lys810Thr
NM_001324124.2:c.2339A>C	NP_001311053.1:p.Lys780Thr
NM_001324125.2:c.2063A>C	NP_001311054.1:p.Lys688Thr
NM_001324126.2:c.2327A>C	NP_001311055.1:p.Lys776Thr
NM_014608.5:c.2429A>C	NP_055423.1:p.Lys810Thr
XM_011543873.3:c.2828A>C	XP_011542175.1:p.Lys943Thr
XM_011543874.2:c.2828A>C	XP_011542176.1:p.Lys943Thr
XM_011543876.3:c.2525A>C	XP_011542178.2:p.Lys842Thr
XM_017022023.2:c.2930A>C	XP_016877512.1:p.Lys977Thr
XM_017022024.2:c.2828A>C	XP_016877513.1:p.Lys943Thr
XM_024449876.1:c.2828A>C	XP_024305644.1:p.Lys943Thr
XM_024449877.1:c.2429A>C	XP_024305645.1:p.Lys810Thr
NM_014608.6:c.2429A>C MANE Select	NP_055423.1:p.Lys810Thr
NM_001287810.4:c.2429A>C	NP_001274739.1:p.Lys810Thr
NM_001324122.3:c.749A>C	NP_001311051.1:p.Lys250Thr
NM_001324123.3:c.2429A>C	NP_001311052.1:p.Lys810Thr
NM_001324124.3:c.2339A>C	NP_001311053.1:p.Lys780Thr
NM_001324125.3:c.2063A>C	NP_001311054.1:p.Lys688Thr
NM_001324126.3:c.2327A>C	NP_001311055.1:p.Lys776Thr
NM_001033028.3:c.1136A>C	NP_001028200.1:p.Lys379Thr