Canonical Allele Identifier: CA488526432

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969330G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903738C>T , CM000677.2:g.22903738C>T	GRCh38
NC_000015.9:g.22969330G>A , CM000677.1:g.22969330G>A	GRCh37
NC_000015.8:g.20520771G>A	NCBI36
NG_054889.1:g.82169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2550G>A	ENSP00000479802.2:p.Leu850=
ENST00000617928.5:c.2556G>A MANE Select	ENSP00000481038.1:p.Leu852=
ENST00000610365.4:c.2556G>A	ENSP00000478779.1:p.Leu852=
ENST00000617556.4:c.1263G>A	ENSP00000480525.1:p.Leu421=
ENST00000617928.4:c.2556G>A	ENSP00000481038.1:p.Leu852=
ENST00000619348.4:n.1703G>A
NM_001033028.1:c.1263G>A	NP_001028200.1:p.Leu421=
NM_001287810.1:c.2556G>A	NP_001274739.1:p.Leu852=
NM_014608.3:c.2556G>A	NP_055423.1:p.Leu852=
XM_011543873.1:c.2955G>A	XP_011542175.1:p.Leu985=
XM_011543874.1:c.2955G>A	XP_011542176.1:p.Leu985=
XM_011543875.1:c.2955G>A	XP_011542177.1:p.Leu985=
XM_011543876.1:c.2550G>A	XP_011542178.1:p.Leu850=
NM_001033028.2:c.1263G>A	NP_001028200.1:p.Leu421=
NM_001287810.3:c.2556G>A	NP_001274739.1:p.Leu852=
NM_001324119.2:c.2658G>A	NP_001311048.1:p.Leu886=
NM_001324120.2:c.2556G>A	NP_001311049.1:p.Leu852=
NM_001324122.2:c.876G>A	NP_001311051.1:p.Leu292=
NM_001324123.2:c.2556G>A	NP_001311052.1:p.Leu852=
NM_001324124.2:c.2466G>A	NP_001311053.1:p.Leu822=
NM_001324125.2:c.2190G>A	NP_001311054.1:p.Leu730=
NM_001324126.2:c.2454G>A	NP_001311055.1:p.Leu818=
NM_014608.5:c.2556G>A	NP_055423.1:p.Leu852=
XM_011543873.3:c.2955G>A	XP_011542175.1:p.Leu985=
XM_011543874.2:c.2955G>A	XP_011542176.1:p.Leu985=
XM_011543876.3:c.2652G>A	XP_011542178.2:p.Leu884=
XM_017022023.2:c.3057G>A	XP_016877512.1:p.Leu1019=
XM_017022024.2:c.2955G>A	XP_016877513.1:p.Leu985=
XM_024449876.1:c.2955G>A	XP_024305644.1:p.Leu985=
XM_024449877.1:c.2556G>A	XP_024305645.1:p.Leu852=
NM_014608.6:c.2556G>A MANE Select	NP_055423.1:p.Leu852=
NM_001287810.4:c.2556G>A	NP_001274739.1:p.Leu852=
NM_001324122.3:c.876G>A	NP_001311051.1:p.Leu292=
NM_001324123.3:c.2556G>A	NP_001311052.1:p.Leu852=
NM_001324124.3:c.2466G>A	NP_001311053.1:p.Leu822=
NM_001324125.3:c.2190G>A	NP_001311054.1:p.Leu730=
NM_001324126.3:c.2454G>A	NP_001311055.1:p.Leu818=
NM_001033028.3:c.1263G>A	NP_001028200.1:p.Leu421=