Canonical Allele Identifier: CA488526496
Gene: CYFIP1 HGNC NCBI

Linked Data

dbSNP Id: rs776420822
MyVariant Identifiers: chr15:g.22969213C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903855G>A , CM000677.2:g.22903855G>A GRCh38
NC_000015.9:g.22969213C>T , CM000677.1:g.22969213C>T GRCh37
NC_000015.8:g.20520654C>T NCBI36
NG_054889.1:g.82052C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2433C>T ENSP00000479802.2:p.Ser811=
ENST00000617928.5:c.2439C>T MANE Select ENSP00000481038.1:p.Ser813=
ENST00000610365.4:c.2439C>T ENSP00000478779.1:p.Ser813=
ENST00000617556.4:c.1146C>T ENSP00000480525.1:p.Ser382=
ENST00000617928.4:c.2439C>T ENSP00000481038.1:p.Ser813=
ENST00000619290.4:n.832C>T
ENST00000619348.4:n.1586C>T
NM_001033028.1:c.1146C>T NP_001028200.1:p.Ser382=
NM_001287810.1:c.2439C>T NP_001274739.1:p.Ser813=
NM_014608.3:c.2439C>T NP_055423.1:p.Ser813=
XM_011543873.1:c.2838C>T XP_011542175.1:p.Ser946=
XM_011543874.1:c.2838C>T XP_011542176.1:p.Ser946=
XM_011543875.1:c.2838C>T XP_011542177.1:p.Ser946=
XM_011543876.1:c.2433C>T XP_011542178.1:p.Ser811=
NM_001033028.2:c.1146C>T NP_001028200.1:p.Ser382=
NM_001287810.3:c.2439C>T NP_001274739.1:p.Ser813=
NM_001324119.2:c.2541C>T NP_001311048.1:p.Ser847=
NM_001324120.2:c.2439C>T NP_001311049.1:p.Ser813=
NM_001324122.2:c.759C>T NP_001311051.1:p.Ser253=
NM_001324123.2:c.2439C>T NP_001311052.1:p.Ser813=
NM_001324124.2:c.2349C>T NP_001311053.1:p.Ser783=
NM_001324125.2:c.2073C>T NP_001311054.1:p.Ser691=
NM_001324126.2:c.2337C>T NP_001311055.1:p.Ser779=
NM_014608.5:c.2439C>T NP_055423.1:p.Ser813=
XM_011543873.3:c.2838C>T XP_011542175.1:p.Ser946=
XM_011543874.2:c.2838C>T XP_011542176.1:p.Ser946=
XM_011543876.3:c.2535C>T XP_011542178.2:p.Ser845=
XM_017022023.2:c.2940C>T XP_016877512.1:p.Ser980=
XM_017022024.2:c.2838C>T XP_016877513.1:p.Ser946=
XM_024449876.1:c.2838C>T XP_024305644.1:p.Ser946=
XM_024449877.1:c.2439C>T XP_024305645.1:p.Ser813=
NM_014608.6:c.2439C>T MANE Select NP_055423.1:p.Ser813=
NM_001287810.4:c.2439C>T NP_001274739.1:p.Ser813=
NM_001324122.3:c.759C>T NP_001311051.1:p.Ser253=
NM_001324123.3:c.2439C>T NP_001311052.1:p.Ser813=
NM_001324124.3:c.2349C>T NP_001311053.1:p.Ser783=
NM_001324125.3:c.2073C>T NP_001311054.1:p.Ser691=
NM_001324126.3:c.2337C>T NP_001311055.1:p.Ser779=
NM_001033028.3:c.1146C>T NP_001028200.1:p.Ser382=