Canonical Allele Identifier: CA391334519

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969263A>T (hg19) ; chr15:g.22903805T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903805T>A , CM000677.2:g.22903805T>A	GRCh38
NC_000015.9:g.22969263A>T , CM000677.1:g.22969263A>T	GRCh37
NC_000015.8:g.20520704A>T	NCBI36
NG_054889.1:g.82102A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2483A>T	ENSP00000479802.2:p.His828Leu
ENST00000617928.5:c.2489A>T MANE Select	ENSP00000481038.1:p.His830Leu
ENST00000610365.4:c.2489A>T	ENSP00000478779.1:p.His830Leu
ENST00000617556.4:c.1196A>T	ENSP00000480525.1:p.His399Leu
ENST00000617928.4:c.2489A>T	ENSP00000481038.1:p.His830Leu
ENST00000619290.4:n.882A>T
ENST00000619348.4:n.1636A>T
NM_001033028.1:c.1196A>T	NP_001028200.1:p.His399Leu
NM_001287810.1:c.2489A>T	NP_001274739.1:p.His830Leu
NM_014608.3:c.2489A>T	NP_055423.1:p.His830Leu
XM_011543873.1:c.2888A>T	XP_011542175.1:p.His963Leu
XM_011543874.1:c.2888A>T	XP_011542176.1:p.His963Leu
XM_011543875.1:c.2888A>T	XP_011542177.1:p.His963Leu
XM_011543876.1:c.2483A>T	XP_011542178.1:p.His828Leu
NM_001033028.2:c.1196A>T	NP_001028200.1:p.His399Leu
NM_001287810.3:c.2489A>T	NP_001274739.1:p.His830Leu
NM_001324119.2:c.2591A>T	NP_001311048.1:p.His864Leu
NM_001324120.2:c.2489A>T	NP_001311049.1:p.His830Leu
NM_001324122.2:c.809A>T	NP_001311051.1:p.His270Leu
NM_001324123.2:c.2489A>T	NP_001311052.1:p.His830Leu
NM_001324124.2:c.2399A>T	NP_001311053.1:p.His800Leu
NM_001324125.2:c.2123A>T	NP_001311054.1:p.His708Leu
NM_001324126.2:c.2387A>T	NP_001311055.1:p.His796Leu
NM_014608.5:c.2489A>T	NP_055423.1:p.His830Leu
XM_011543873.3:c.2888A>T	XP_011542175.1:p.His963Leu
XM_011543874.2:c.2888A>T	XP_011542176.1:p.His963Leu
XM_011543876.3:c.2585A>T	XP_011542178.2:p.His862Leu
XM_017022023.2:c.2990A>T	XP_016877512.1:p.His997Leu
XM_017022024.2:c.2888A>T	XP_016877513.1:p.His963Leu
XM_024449876.1:c.2888A>T	XP_024305644.1:p.His963Leu
XM_024449877.1:c.2489A>T	XP_024305645.1:p.His830Leu
NM_014608.6:c.2489A>T MANE Select	NP_055423.1:p.His830Leu
NM_001287810.4:c.2489A>T	NP_001274739.1:p.His830Leu
NM_001324122.3:c.809A>T	NP_001311051.1:p.His270Leu
NM_001324123.3:c.2489A>T	NP_001311052.1:p.His830Leu
NM_001324124.3:c.2399A>T	NP_001311053.1:p.His800Leu
NM_001324125.3:c.2123A>T	NP_001311054.1:p.His708Leu
NM_001324126.3:c.2387A>T	NP_001311055.1:p.His796Leu
NM_001033028.3:c.1196A>T	NP_001028200.1:p.His399Leu