Canonical Allele Identifier: CA391334690

Gene: CYFIP1

Linked Data

• dbSNP Id: rs999851832
• gnomAD v2: 15-22969220-C-G
• gnomAD v4: 15-22903848-G-C
• MyVariant Identifiers: chr15:g.22969220C>G (hg19) ; chr15:g.22903848G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903848G>C , CM000677.2:g.22903848G>C	GRCh38
NC_000015.9:g.22969220C>G , CM000677.1:g.22969220C>G	GRCh37
NC_000015.8:g.20520661C>G	NCBI36
NG_054889.1:g.82059C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2440C>G	ENSP00000479802.2:p.Leu814Val
ENST00000617928.5:c.2446C>G MANE Select	ENSP00000481038.1:p.Leu816Val
ENST00000610365.4:c.2446C>G	ENSP00000478779.1:p.Leu816Val
ENST00000617556.4:c.1153C>G	ENSP00000480525.1:p.Leu385Val
ENST00000617928.4:c.2446C>G	ENSP00000481038.1:p.Leu816Val
ENST00000619290.4:n.839C>G
ENST00000619348.4:n.1593C>G
NM_001033028.1:c.1153C>G	NP_001028200.1:p.Leu385Val
NM_001287810.1:c.2446C>G	NP_001274739.1:p.Leu816Val
NM_014608.3:c.2446C>G	NP_055423.1:p.Leu816Val
XM_011543873.1:c.2845C>G	XP_011542175.1:p.Leu949Val
XM_011543874.1:c.2845C>G	XP_011542176.1:p.Leu949Val
XM_011543875.1:c.2845C>G	XP_011542177.1:p.Leu949Val
XM_011543876.1:c.2440C>G	XP_011542178.1:p.Leu814Val
NM_001033028.2:c.1153C>G	NP_001028200.1:p.Leu385Val
NM_001287810.3:c.2446C>G	NP_001274739.1:p.Leu816Val
NM_001324119.2:c.2548C>G	NP_001311048.1:p.Leu850Val
NM_001324120.2:c.2446C>G	NP_001311049.1:p.Leu816Val
NM_001324122.2:c.766C>G	NP_001311051.1:p.Leu256Val
NM_001324123.2:c.2446C>G	NP_001311052.1:p.Leu816Val
NM_001324124.2:c.2356C>G	NP_001311053.1:p.Leu786Val
NM_001324125.2:c.2080C>G	NP_001311054.1:p.Leu694Val
NM_001324126.2:c.2344C>G	NP_001311055.1:p.Leu782Val
NM_014608.5:c.2446C>G	NP_055423.1:p.Leu816Val
XM_011543873.3:c.2845C>G	XP_011542175.1:p.Leu949Val
XM_011543874.2:c.2845C>G	XP_011542176.1:p.Leu949Val
XM_011543876.3:c.2542C>G	XP_011542178.2:p.Leu848Val
XM_017022023.2:c.2947C>G	XP_016877512.1:p.Leu983Val
XM_017022024.2:c.2845C>G	XP_016877513.1:p.Leu949Val
XM_024449876.1:c.2845C>G	XP_024305644.1:p.Leu949Val
XM_024449877.1:c.2446C>G	XP_024305645.1:p.Leu816Val
NM_014608.6:c.2446C>G MANE Select	NP_055423.1:p.Leu816Val
NM_001287810.4:c.2446C>G	NP_001274739.1:p.Leu816Val
NM_001324122.3:c.766C>G	NP_001311051.1:p.Leu256Val
NM_001324123.3:c.2446C>G	NP_001311052.1:p.Leu816Val
NM_001324124.3:c.2356C>G	NP_001311053.1:p.Leu786Val
NM_001324125.3:c.2080C>G	NP_001311054.1:p.Leu694Val
NM_001324126.3:c.2344C>G	NP_001311055.1:p.Leu782Val
NM_001033028.3:c.1153C>G	NP_001028200.1:p.Leu385Val