Canonical Allele Identifier: CA267616566

Gene: CYFIP1

Linked Data

• dbSNP Id: rs745940150
• gnomAD v2: 15-22969222-G-C
• gnomAD v4: 15-22903846-C-G
• MyVariant Identifiers: chr15:g.22969222G>C (hg19) ; chr15:g.22903846C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903846C>G , CM000677.2:g.22903846C>G	GRCh38
NC_000015.9:g.22969222G>C , CM000677.1:g.22969222G>C	GRCh37
NC_000015.8:g.20520663G>C	NCBI36
NG_054889.1:g.82061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2442G>C	ENSP00000479802.2:p.Leu814=
ENST00000617928.5:c.2448G>C MANE Select	ENSP00000481038.1:p.Leu816=
ENST00000610365.4:c.2448G>C	ENSP00000478779.1:p.Leu816=
ENST00000617556.4:c.1155G>C	ENSP00000480525.1:p.Leu385=
ENST00000617928.4:c.2448G>C	ENSP00000481038.1:p.Leu816=
ENST00000619290.4:n.841G>C
ENST00000619348.4:n.1595G>C
NM_001033028.1:c.1155G>C	NP_001028200.1:p.Leu385=
NM_001287810.1:c.2448G>C	NP_001274739.1:p.Leu816=
NM_014608.3:c.2448G>C	NP_055423.1:p.Leu816=
XM_011543873.1:c.2847G>C	XP_011542175.1:p.Leu949=
XM_011543874.1:c.2847G>C	XP_011542176.1:p.Leu949=
XM_011543875.1:c.2847G>C	XP_011542177.1:p.Leu949=
XM_011543876.1:c.2442G>C	XP_011542178.1:p.Leu814=
NM_001033028.2:c.1155G>C	NP_001028200.1:p.Leu385=
NM_001287810.3:c.2448G>C	NP_001274739.1:p.Leu816=
NM_001324119.2:c.2550G>C	NP_001311048.1:p.Leu850=
NM_001324120.2:c.2448G>C	NP_001311049.1:p.Leu816=
NM_001324122.2:c.768G>C	NP_001311051.1:p.Leu256=
NM_001324123.2:c.2448G>C	NP_001311052.1:p.Leu816=
NM_001324124.2:c.2358G>C	NP_001311053.1:p.Leu786=
NM_001324125.2:c.2082G>C	NP_001311054.1:p.Leu694=
NM_001324126.2:c.2346G>C	NP_001311055.1:p.Leu782=
NM_014608.5:c.2448G>C	NP_055423.1:p.Leu816=
XM_011543873.3:c.2847G>C	XP_011542175.1:p.Leu949=
XM_011543874.2:c.2847G>C	XP_011542176.1:p.Leu949=
XM_011543876.3:c.2544G>C	XP_011542178.2:p.Leu848=
XM_017022023.2:c.2949G>C	XP_016877512.1:p.Leu983=
XM_017022024.2:c.2847G>C	XP_016877513.1:p.Leu949=
XM_024449876.1:c.2847G>C	XP_024305644.1:p.Leu949=
XM_024449877.1:c.2448G>C	XP_024305645.1:p.Leu816=
NM_014608.6:c.2448G>C MANE Select	NP_055423.1:p.Leu816=
NM_001287810.4:c.2448G>C	NP_001274739.1:p.Leu816=
NM_001324122.3:c.768G>C	NP_001311051.1:p.Leu256=
NM_001324123.3:c.2448G>C	NP_001311052.1:p.Leu816=
NM_001324124.3:c.2358G>C	NP_001311053.1:p.Leu786=
NM_001324125.3:c.2082G>C	NP_001311054.1:p.Leu694=
NM_001324126.3:c.2346G>C	NP_001311055.1:p.Leu782=
NM_001033028.3:c.1155G>C	NP_001028200.1:p.Leu385=