Canonical Allele Identifier: CA488526437
Gene: CYFIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.22969321T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903747A>G , CM000677.2:g.22903747A>G GRCh38
NC_000015.9:g.22969321T>C , CM000677.1:g.22969321T>C GRCh37
NC_000015.8:g.20520762T>C NCBI36
NG_054889.1:g.82160T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2541T>C ENSP00000479802.2:p.Tyr847=
ENST00000617928.5:c.2547T>C MANE Select ENSP00000481038.1:p.Tyr849=
ENST00000610365.4:c.2547T>C ENSP00000478779.1:p.Tyr849=
ENST00000617556.4:c.1254T>C ENSP00000480525.1:p.Tyr418=
ENST00000617928.4:c.2547T>C ENSP00000481038.1:p.Tyr849=
ENST00000619348.4:n.1694T>C
NM_001033028.1:c.1254T>C NP_001028200.1:p.Tyr418=
NM_001287810.1:c.2547T>C NP_001274739.1:p.Tyr849=
NM_014608.3:c.2547T>C NP_055423.1:p.Tyr849=
XM_011543873.1:c.2946T>C XP_011542175.1:p.Tyr982=
XM_011543874.1:c.2946T>C XP_011542176.1:p.Tyr982=
XM_011543875.1:c.2946T>C XP_011542177.1:p.Tyr982=
XM_011543876.1:c.2541T>C XP_011542178.1:p.Tyr847=
NM_001033028.2:c.1254T>C NP_001028200.1:p.Tyr418=
NM_001287810.3:c.2547T>C NP_001274739.1:p.Tyr849=
NM_001324119.2:c.2649T>C NP_001311048.1:p.Tyr883=
NM_001324120.2:c.2547T>C NP_001311049.1:p.Tyr849=
NM_001324122.2:c.867T>C NP_001311051.1:p.Tyr289=
NM_001324123.2:c.2547T>C NP_001311052.1:p.Tyr849=
NM_001324124.2:c.2457T>C NP_001311053.1:p.Tyr819=
NM_001324125.2:c.2181T>C NP_001311054.1:p.Tyr727=
NM_001324126.2:c.2445T>C NP_001311055.1:p.Tyr815=
NM_014608.5:c.2547T>C NP_055423.1:p.Tyr849=
XM_011543873.3:c.2946T>C XP_011542175.1:p.Tyr982=
XM_011543874.2:c.2946T>C XP_011542176.1:p.Tyr982=
XM_011543876.3:c.2643T>C XP_011542178.2:p.Tyr881=
XM_017022023.2:c.3048T>C XP_016877512.1:p.Tyr1016=
XM_017022024.2:c.2946T>C XP_016877513.1:p.Tyr982=
XM_024449876.1:c.2946T>C XP_024305644.1:p.Tyr982=
XM_024449877.1:c.2547T>C XP_024305645.1:p.Tyr849=
NM_014608.6:c.2547T>C MANE Select NP_055423.1:p.Tyr849=
NM_001287810.4:c.2547T>C NP_001274739.1:p.Tyr849=
NM_001324122.3:c.867T>C NP_001311051.1:p.Tyr289=
NM_001324123.3:c.2547T>C NP_001311052.1:p.Tyr849=
NM_001324124.3:c.2457T>C NP_001311053.1:p.Tyr819=
NM_001324125.3:c.2181T>C NP_001311054.1:p.Tyr727=
NM_001324126.3:c.2445T>C NP_001311055.1:p.Tyr815=
NM_001033028.3:c.1254T>C NP_001028200.1:p.Tyr418=