Canonical Allele Identifier: CA391334665

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969227T>G (hg19) ; chr15:g.22903841A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903841A>C , CM000677.2:g.22903841A>C	GRCh38
NC_000015.9:g.22969227T>G , CM000677.1:g.22969227T>G	GRCh37
NC_000015.8:g.20520668T>G	NCBI36
NG_054889.1:g.82066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2447T>G	ENSP00000479802.2:p.Leu816Arg
ENST00000617928.5:c.2453T>G MANE Select	ENSP00000481038.1:p.Leu818Arg
ENST00000610365.4:c.2453T>G	ENSP00000478779.1:p.Leu818Arg
ENST00000617556.4:c.1160T>G	ENSP00000480525.1:p.Leu387Arg
ENST00000617928.4:c.2453T>G	ENSP00000481038.1:p.Leu818Arg
ENST00000619290.4:n.846T>G
ENST00000619348.4:n.1600T>G
NM_001033028.1:c.1160T>G	NP_001028200.1:p.Leu387Arg
NM_001287810.1:c.2453T>G	NP_001274739.1:p.Leu818Arg
NM_014608.3:c.2453T>G	NP_055423.1:p.Leu818Arg
XM_011543873.1:c.2852T>G	XP_011542175.1:p.Leu951Arg
XM_011543874.1:c.2852T>G	XP_011542176.1:p.Leu951Arg
XM_011543875.1:c.2852T>G	XP_011542177.1:p.Leu951Arg
XM_011543876.1:c.2447T>G	XP_011542178.1:p.Leu816Arg
NM_001033028.2:c.1160T>G	NP_001028200.1:p.Leu387Arg
NM_001287810.3:c.2453T>G	NP_001274739.1:p.Leu818Arg
NM_001324119.2:c.2555T>G	NP_001311048.1:p.Leu852Arg
NM_001324120.2:c.2453T>G	NP_001311049.1:p.Leu818Arg
NM_001324122.2:c.773T>G	NP_001311051.1:p.Leu258Arg
NM_001324123.2:c.2453T>G	NP_001311052.1:p.Leu818Arg
NM_001324124.2:c.2363T>G	NP_001311053.1:p.Leu788Arg
NM_001324125.2:c.2087T>G	NP_001311054.1:p.Leu696Arg
NM_001324126.2:c.2351T>G	NP_001311055.1:p.Leu784Arg
NM_014608.5:c.2453T>G	NP_055423.1:p.Leu818Arg
XM_011543873.3:c.2852T>G	XP_011542175.1:p.Leu951Arg
XM_011543874.2:c.2852T>G	XP_011542176.1:p.Leu951Arg
XM_011543876.3:c.2549T>G	XP_011542178.2:p.Leu850Arg
XM_017022023.2:c.2954T>G	XP_016877512.1:p.Leu985Arg
XM_017022024.2:c.2852T>G	XP_016877513.1:p.Leu951Arg
XM_024449876.1:c.2852T>G	XP_024305644.1:p.Leu951Arg
XM_024449877.1:c.2453T>G	XP_024305645.1:p.Leu818Arg
NM_014608.6:c.2453T>G MANE Select	NP_055423.1:p.Leu818Arg
NM_001287810.4:c.2453T>G	NP_001274739.1:p.Leu818Arg
NM_001324122.3:c.773T>G	NP_001311051.1:p.Leu258Arg
NM_001324123.3:c.2453T>G	NP_001311052.1:p.Leu818Arg
NM_001324124.3:c.2363T>G	NP_001311053.1:p.Leu788Arg
NM_001324125.3:c.2087T>G	NP_001311054.1:p.Leu696Arg
NM_001324126.3:c.2351T>G	NP_001311055.1:p.Leu784Arg
NM_001033028.3:c.1160T>G	NP_001028200.1:p.Leu387Arg