Canonical Allele Identifier: CA488526520
Gene: CYFIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.22969177G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22903891C>T , CM000677.2:g.22903891C>T GRCh38
NC_000015.9:g.22969177G>A , CM000677.1:g.22969177G>A GRCh37
NC_000015.8:g.20520618G>A NCBI36
NG_054889.1:g.82016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000612288.2:c.2397G>A ENSP00000479802.2:p.Leu799=
ENST00000617928.5:c.2403G>A MANE Select ENSP00000481038.1:p.Leu801=
ENST00000610365.4:c.2403G>A ENSP00000478779.1:p.Leu801=
ENST00000617556.4:c.1110G>A ENSP00000480525.1:p.Leu370=
ENST00000617928.4:c.2403G>A ENSP00000481038.1:p.Leu801=
ENST00000619290.4:n.796G>A
ENST00000619348.4:n.1550G>A
NM_001033028.1:c.1110G>A NP_001028200.1:p.Leu370=
NM_001287810.1:c.2403G>A NP_001274739.1:p.Leu801=
NM_014608.3:c.2403G>A NP_055423.1:p.Leu801=
XM_011543873.1:c.2802G>A XP_011542175.1:p.Leu934=
XM_011543874.1:c.2802G>A XP_011542176.1:p.Leu934=
XM_011543875.1:c.2802G>A XP_011542177.1:p.Leu934=
XM_011543876.1:c.2397G>A XP_011542178.1:p.Leu799=
NM_001033028.2:c.1110G>A NP_001028200.1:p.Leu370=
NM_001287810.3:c.2403G>A NP_001274739.1:p.Leu801=
NM_001324119.2:c.2505G>A NP_001311048.1:p.Leu835=
NM_001324120.2:c.2403G>A NP_001311049.1:p.Leu801=
NM_001324122.2:c.723G>A NP_001311051.1:p.Leu241=
NM_001324123.2:c.2403G>A NP_001311052.1:p.Leu801=
NM_001324124.2:c.2313G>A NP_001311053.1:p.Leu771=
NM_001324125.2:c.2037G>A NP_001311054.1:p.Leu679=
NM_001324126.2:c.2301G>A NP_001311055.1:p.Leu767=
NM_014608.5:c.2403G>A NP_055423.1:p.Leu801=
XM_011543873.3:c.2802G>A XP_011542175.1:p.Leu934=
XM_011543874.2:c.2802G>A XP_011542176.1:p.Leu934=
XM_011543876.3:c.2499G>A XP_011542178.2:p.Leu833=
XM_017022023.2:c.2904G>A XP_016877512.1:p.Leu968=
XM_017022024.2:c.2802G>A XP_016877513.1:p.Leu934=
XM_024449876.1:c.2802G>A XP_024305644.1:p.Leu934=
XM_024449877.1:c.2403G>A XP_024305645.1:p.Leu801=
NM_014608.6:c.2403G>A MANE Select NP_055423.1:p.Leu801=
NM_001287810.4:c.2403G>A NP_001274739.1:p.Leu801=
NM_001324122.3:c.723G>A NP_001311051.1:p.Leu241=
NM_001324123.3:c.2403G>A NP_001311052.1:p.Leu801=
NM_001324124.3:c.2313G>A NP_001311053.1:p.Leu771=
NM_001324125.3:c.2037G>A NP_001311054.1:p.Leu679=
NM_001324126.3:c.2301G>A NP_001311055.1:p.Leu767=
NM_001033028.3:c.1110G>A NP_001028200.1:p.Leu370=