Canonical Allele Identifier: CA391334680

Gene: CYFIP1

Linked Data

• dbSNP Id: rs2142015024
• MyVariant Identifiers: chr15:g.22969223A>C (hg19) ; chr15:g.22903845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903845T>G , CM000677.2:g.22903845T>G	GRCh38
NC_000015.9:g.22969223A>C , CM000677.1:g.22969223A>C	GRCh37
NC_000015.8:g.20520664A>C	NCBI36
NG_054889.1:g.82062A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2443A>C	ENSP00000479802.2:p.Thr815Pro
ENST00000617928.5:c.2449A>C MANE Select	ENSP00000481038.1:p.Thr817Pro
ENST00000610365.4:c.2449A>C	ENSP00000478779.1:p.Thr817Pro
ENST00000617556.4:c.1156A>C	ENSP00000480525.1:p.Thr386Pro
ENST00000617928.4:c.2449A>C	ENSP00000481038.1:p.Thr817Pro
ENST00000619290.4:n.842A>C
ENST00000619348.4:n.1596A>C
NM_001033028.1:c.1156A>C	NP_001028200.1:p.Thr386Pro
NM_001287810.1:c.2449A>C	NP_001274739.1:p.Thr817Pro
NM_014608.3:c.2449A>C	NP_055423.1:p.Thr817Pro
XM_011543873.1:c.2848A>C	XP_011542175.1:p.Thr950Pro
XM_011543874.1:c.2848A>C	XP_011542176.1:p.Thr950Pro
XM_011543875.1:c.2848A>C	XP_011542177.1:p.Thr950Pro
XM_011543876.1:c.2443A>C	XP_011542178.1:p.Thr815Pro
NM_001033028.2:c.1156A>C	NP_001028200.1:p.Thr386Pro
NM_001287810.3:c.2449A>C	NP_001274739.1:p.Thr817Pro
NM_001324119.2:c.2551A>C	NP_001311048.1:p.Thr851Pro
NM_001324120.2:c.2449A>C	NP_001311049.1:p.Thr817Pro
NM_001324122.2:c.769A>C	NP_001311051.1:p.Thr257Pro
NM_001324123.2:c.2449A>C	NP_001311052.1:p.Thr817Pro
NM_001324124.2:c.2359A>C	NP_001311053.1:p.Thr787Pro
NM_001324125.2:c.2083A>C	NP_001311054.1:p.Thr695Pro
NM_001324126.2:c.2347A>C	NP_001311055.1:p.Thr783Pro
NM_014608.5:c.2449A>C	NP_055423.1:p.Thr817Pro
XM_011543873.3:c.2848A>C	XP_011542175.1:p.Thr950Pro
XM_011543874.2:c.2848A>C	XP_011542176.1:p.Thr950Pro
XM_011543876.3:c.2545A>C	XP_011542178.2:p.Thr849Pro
XM_017022023.2:c.2950A>C	XP_016877512.1:p.Thr984Pro
XM_017022024.2:c.2848A>C	XP_016877513.1:p.Thr950Pro
XM_024449876.1:c.2848A>C	XP_024305644.1:p.Thr950Pro
XM_024449877.1:c.2449A>C	XP_024305645.1:p.Thr817Pro
NM_014608.6:c.2449A>C MANE Select	NP_055423.1:p.Thr817Pro
NM_001287810.4:c.2449A>C	NP_001274739.1:p.Thr817Pro
NM_001324122.3:c.769A>C	NP_001311051.1:p.Thr257Pro
NM_001324123.3:c.2449A>C	NP_001311052.1:p.Thr817Pro
NM_001324124.3:c.2359A>C	NP_001311053.1:p.Thr787Pro
NM_001324125.3:c.2083A>C	NP_001311054.1:p.Thr695Pro
NM_001324126.3:c.2347A>C	NP_001311055.1:p.Thr783Pro
NM_001033028.3:c.1156A>C	NP_001028200.1:p.Thr386Pro