Canonical Allele Identifier: CA391334375

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969300C>G (hg19) ; chr15:g.22903768G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903768G>C , CM000677.2:g.22903768G>C	GRCh38
NC_000015.9:g.22969300C>G , CM000677.1:g.22969300C>G	GRCh37
NC_000015.8:g.20520741C>G	NCBI36
NG_054889.1:g.82139C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2520C>G	ENSP00000479802.2:p.His840Gln
ENST00000617928.5:c.2526C>G MANE Select	ENSP00000481038.1:p.His842Gln
ENST00000610365.4:c.2526C>G	ENSP00000478779.1:p.His842Gln
ENST00000617556.4:c.1233C>G	ENSP00000480525.1:p.His411Gln
ENST00000617928.4:c.2526C>G	ENSP00000481038.1:p.His842Gln
ENST00000619290.4:n.919C>G
ENST00000619348.4:n.1673C>G
NM_001033028.1:c.1233C>G	NP_001028200.1:p.His411Gln
NM_001287810.1:c.2526C>G	NP_001274739.1:p.His842Gln
NM_014608.3:c.2526C>G	NP_055423.1:p.His842Gln
XM_011543873.1:c.2925C>G	XP_011542175.1:p.His975Gln
XM_011543874.1:c.2925C>G	XP_011542176.1:p.His975Gln
XM_011543875.1:c.2925C>G	XP_011542177.1:p.His975Gln
XM_011543876.1:c.2520C>G	XP_011542178.1:p.His840Gln
NM_001033028.2:c.1233C>G	NP_001028200.1:p.His411Gln
NM_001287810.3:c.2526C>G	NP_001274739.1:p.His842Gln
NM_001324119.2:c.2628C>G	NP_001311048.1:p.His876Gln
NM_001324120.2:c.2526C>G	NP_001311049.1:p.His842Gln
NM_001324122.2:c.846C>G	NP_001311051.1:p.His282Gln
NM_001324123.2:c.2526C>G	NP_001311052.1:p.His842Gln
NM_001324124.2:c.2436C>G	NP_001311053.1:p.His812Gln
NM_001324125.2:c.2160C>G	NP_001311054.1:p.His720Gln
NM_001324126.2:c.2424C>G	NP_001311055.1:p.His808Gln
NM_014608.5:c.2526C>G	NP_055423.1:p.His842Gln
XM_011543873.3:c.2925C>G	XP_011542175.1:p.His975Gln
XM_011543874.2:c.2925C>G	XP_011542176.1:p.His975Gln
XM_011543876.3:c.2622C>G	XP_011542178.2:p.His874Gln
XM_017022023.2:c.3027C>G	XP_016877512.1:p.His1009Gln
XM_017022024.2:c.2925C>G	XP_016877513.1:p.His975Gln
XM_024449876.1:c.2925C>G	XP_024305644.1:p.His975Gln
XM_024449877.1:c.2526C>G	XP_024305645.1:p.His842Gln
NM_014608.6:c.2526C>G MANE Select	NP_055423.1:p.His842Gln
NM_001287810.4:c.2526C>G	NP_001274739.1:p.His842Gln
NM_001324122.3:c.846C>G	NP_001311051.1:p.His282Gln
NM_001324123.3:c.2526C>G	NP_001311052.1:p.His842Gln
NM_001324124.3:c.2436C>G	NP_001311053.1:p.His812Gln
NM_001324125.3:c.2160C>G	NP_001311054.1:p.His720Gln
NM_001324126.3:c.2424C>G	NP_001311055.1:p.His808Gln
NM_001033028.3:c.1233C>G	NP_001028200.1:p.His411Gln