Canonical Allele Identifier: CA391334764

Gene: CYFIP1

Linked Data

• dbSNP Id: rs746995629
• gnomAD v4: 15-22903868-T-A
• MyVariant Identifiers: chr15:g.22969200A>T (hg19) ; chr15:g.22903868T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903868T>A , CM000677.2:g.22903868T>A	GRCh38
NC_000015.9:g.22969200A>T , CM000677.1:g.22969200A>T	GRCh37
NC_000015.8:g.20520641A>T	NCBI36
NG_054889.1:g.82039A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2420A>T	ENSP00000479802.2:p.His807Leu
ENST00000617928.5:c.2426A>T MANE Select	ENSP00000481038.1:p.His809Leu
ENST00000610365.4:c.2426A>T	ENSP00000478779.1:p.His809Leu
ENST00000617556.4:c.1133A>T	ENSP00000480525.1:p.His378Leu
ENST00000617928.4:c.2426A>T	ENSP00000481038.1:p.His809Leu
ENST00000619290.4:n.819A>T
ENST00000619348.4:n.1573A>T
NM_001033028.1:c.1133A>T	NP_001028200.1:p.His378Leu
NM_001287810.1:c.2426A>T	NP_001274739.1:p.His809Leu
NM_014608.3:c.2426A>T	NP_055423.1:p.His809Leu
XM_011543873.1:c.2825A>T	XP_011542175.1:p.His942Leu
XM_011543874.1:c.2825A>T	XP_011542176.1:p.His942Leu
XM_011543875.1:c.2825A>T	XP_011542177.1:p.His942Leu
XM_011543876.1:c.2420A>T	XP_011542178.1:p.His807Leu
NM_001033028.2:c.1133A>T	NP_001028200.1:p.His378Leu
NM_001287810.3:c.2426A>T	NP_001274739.1:p.His809Leu
NM_001324119.2:c.2528A>T	NP_001311048.1:p.His843Leu
NM_001324120.2:c.2426A>T	NP_001311049.1:p.His809Leu
NM_001324122.2:c.746A>T	NP_001311051.1:p.His249Leu
NM_001324123.2:c.2426A>T	NP_001311052.1:p.His809Leu
NM_001324124.2:c.2336A>T	NP_001311053.1:p.His779Leu
NM_001324125.2:c.2060A>T	NP_001311054.1:p.His687Leu
NM_001324126.2:c.2324A>T	NP_001311055.1:p.His775Leu
NM_014608.5:c.2426A>T	NP_055423.1:p.His809Leu
XM_011543873.3:c.2825A>T	XP_011542175.1:p.His942Leu
XM_011543874.2:c.2825A>T	XP_011542176.1:p.His942Leu
XM_011543876.3:c.2522A>T	XP_011542178.2:p.His841Leu
XM_017022023.2:c.2927A>T	XP_016877512.1:p.His976Leu
XM_017022024.2:c.2825A>T	XP_016877513.1:p.His942Leu
XM_024449876.1:c.2825A>T	XP_024305644.1:p.His942Leu
XM_024449877.1:c.2426A>T	XP_024305645.1:p.His809Leu
NM_014608.6:c.2426A>T MANE Select	NP_055423.1:p.His809Leu
NM_001287810.4:c.2426A>T	NP_001274739.1:p.His809Leu
NM_001324122.3:c.746A>T	NP_001311051.1:p.His249Leu
NM_001324123.3:c.2426A>T	NP_001311052.1:p.His809Leu
NM_001324124.3:c.2336A>T	NP_001311053.1:p.His779Leu
NM_001324125.3:c.2060A>T	NP_001311054.1:p.His687Leu
NM_001324126.3:c.2324A>T	NP_001311055.1:p.His775Leu
NM_001033028.3:c.1133A>T	NP_001028200.1:p.His378Leu