Canonical Allele Identifier: CA391334621

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969238G>C (hg19) ; chr15:g.22903830C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903830C>G , CM000677.2:g.22903830C>G	GRCh38
NC_000015.9:g.22969238G>C , CM000677.1:g.22969238G>C	GRCh37
NC_000015.8:g.20520679G>C	NCBI36
NG_054889.1:g.82077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2458G>C	ENSP00000479802.2:p.Asp820His
ENST00000617928.5:c.2464G>C MANE Select	ENSP00000481038.1:p.Asp822His
ENST00000610365.4:c.2464G>C	ENSP00000478779.1:p.Asp822His
ENST00000617556.4:c.1171G>C	ENSP00000480525.1:p.Asp391His
ENST00000617928.4:c.2464G>C	ENSP00000481038.1:p.Asp822His
ENST00000619290.4:n.857G>C
ENST00000619348.4:n.1611G>C
NM_001033028.1:c.1171G>C	NP_001028200.1:p.Asp391His
NM_001287810.1:c.2464G>C	NP_001274739.1:p.Asp822His
NM_014608.3:c.2464G>C	NP_055423.1:p.Asp822His
XM_011543873.1:c.2863G>C	XP_011542175.1:p.Asp955His
XM_011543874.1:c.2863G>C	XP_011542176.1:p.Asp955His
XM_011543875.1:c.2863G>C	XP_011542177.1:p.Asp955His
XM_011543876.1:c.2458G>C	XP_011542178.1:p.Asp820His
NM_001033028.2:c.1171G>C	NP_001028200.1:p.Asp391His
NM_001287810.3:c.2464G>C	NP_001274739.1:p.Asp822His
NM_001324119.2:c.2566G>C	NP_001311048.1:p.Asp856His
NM_001324120.2:c.2464G>C	NP_001311049.1:p.Asp822His
NM_001324122.2:c.784G>C	NP_001311051.1:p.Asp262His
NM_001324123.2:c.2464G>C	NP_001311052.1:p.Asp822His
NM_001324124.2:c.2374G>C	NP_001311053.1:p.Asp792His
NM_001324125.2:c.2098G>C	NP_001311054.1:p.Asp700His
NM_001324126.2:c.2362G>C	NP_001311055.1:p.Asp788His
NM_014608.5:c.2464G>C	NP_055423.1:p.Asp822His
XM_011543873.3:c.2863G>C	XP_011542175.1:p.Asp955His
XM_011543874.2:c.2863G>C	XP_011542176.1:p.Asp955His
XM_011543876.3:c.2560G>C	XP_011542178.2:p.Asp854His
XM_017022023.2:c.2965G>C	XP_016877512.1:p.Asp989His
XM_017022024.2:c.2863G>C	XP_016877513.1:p.Asp955His
XM_024449876.1:c.2863G>C	XP_024305644.1:p.Asp955His
XM_024449877.1:c.2464G>C	XP_024305645.1:p.Asp822His
NM_014608.6:c.2464G>C MANE Select	NP_055423.1:p.Asp822His
NM_001287810.4:c.2464G>C	NP_001274739.1:p.Asp822His
NM_001324122.3:c.784G>C	NP_001311051.1:p.Asp262His
NM_001324123.3:c.2464G>C	NP_001311052.1:p.Asp822His
NM_001324124.3:c.2374G>C	NP_001311053.1:p.Asp792His
NM_001324125.3:c.2098G>C	NP_001311054.1:p.Asp700His
NM_001324126.3:c.2362G>C	NP_001311055.1:p.Asp788His
NM_001033028.3:c.1171G>C	NP_001028200.1:p.Asp391His