Canonical Allele Identifier: CA391334890

Gene: CYFIP1

Linked Data

• dbSNP Id: rs1485795447
• gnomAD v3: 15-22903899-C-G
• gnomAD v4: 15-22903899-C-G
• MyVariant Identifiers: chr15:g.22969169G>C (hg19) ; chr15:g.22903899C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903899C>G , CM000677.2:g.22903899C>G	GRCh38
NC_000015.9:g.22969169G>C , CM000677.1:g.22969169G>C	GRCh37
NC_000015.8:g.20520610G>C	NCBI36
NG_054889.1:g.82008G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2389G>C	ENSP00000479802.2:p.Asp797His
ENST00000617928.5:c.2395G>C MANE Select	ENSP00000481038.1:p.Asp799His
ENST00000610365.4:c.2395G>C	ENSP00000478779.1:p.Asp799His
ENST00000617556.4:c.1102G>C	ENSP00000480525.1:p.Asp368His
ENST00000617928.4:c.2395G>C	ENSP00000481038.1:p.Asp799His
ENST00000619290.4:n.788G>C
ENST00000619348.4:n.1542G>C
NM_001033028.1:c.1102G>C	NP_001028200.1:p.Asp368His
NM_001287810.1:c.2395G>C	NP_001274739.1:p.Asp799His
NM_014608.3:c.2395G>C	NP_055423.1:p.Asp799His
XM_011543873.1:c.2794G>C	XP_011542175.1:p.Asp932His
XM_011543874.1:c.2794G>C	XP_011542176.1:p.Asp932His
XM_011543875.1:c.2794G>C	XP_011542177.1:p.Asp932His
XM_011543876.1:c.2389G>C	XP_011542178.1:p.Asp797His
NM_001033028.2:c.1102G>C	NP_001028200.1:p.Asp368His
NM_001287810.3:c.2395G>C	NP_001274739.1:p.Asp799His
NM_001324119.2:c.2497G>C	NP_001311048.1:p.Asp833His
NM_001324120.2:c.2395G>C	NP_001311049.1:p.Asp799His
NM_001324122.2:c.715G>C	NP_001311051.1:p.Asp239His
NM_001324123.2:c.2395G>C	NP_001311052.1:p.Asp799His
NM_001324124.2:c.2305G>C	NP_001311053.1:p.Asp769His
NM_001324125.2:c.2029G>C	NP_001311054.1:p.Asp677His
NM_001324126.2:c.2293G>C	NP_001311055.1:p.Asp765His
NM_014608.5:c.2395G>C	NP_055423.1:p.Asp799His
XM_011543873.3:c.2794G>C	XP_011542175.1:p.Asp932His
XM_011543874.2:c.2794G>C	XP_011542176.1:p.Asp932His
XM_011543876.3:c.2491G>C	XP_011542178.2:p.Asp831His
XM_017022023.2:c.2896G>C	XP_016877512.1:p.Asp966His
XM_017022024.2:c.2794G>C	XP_016877513.1:p.Asp932His
XM_024449876.1:c.2794G>C	XP_024305644.1:p.Asp932His
XM_024449877.1:c.2395G>C	XP_024305645.1:p.Asp799His
NM_014608.6:c.2395G>C MANE Select	NP_055423.1:p.Asp799His
NM_001287810.4:c.2395G>C	NP_001274739.1:p.Asp799His
NM_001324122.3:c.715G>C	NP_001311051.1:p.Asp239His
NM_001324123.3:c.2395G>C	NP_001311052.1:p.Asp799His
NM_001324124.3:c.2305G>C	NP_001311053.1:p.Asp769His
NM_001324125.3:c.2029G>C	NP_001311054.1:p.Asp677His
NM_001324126.3:c.2293G>C	NP_001311055.1:p.Asp765His
NM_001033028.3:c.1102G>C	NP_001028200.1:p.Asp368His