Canonical Allele Identifier: CA391334889

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969169G>T (hg19) ; chr15:g.22903899C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2389G>T	ENSP00000479802.2:p.Asp797Tyr
ENST00000617928.5:c.2395G>T MANE Select	ENSP00000481038.1:p.Asp799Tyr
ENST00000610365.4:c.2395G>T	ENSP00000478779.1:p.Asp799Tyr
ENST00000617556.4:c.1102G>T	ENSP00000480525.1:p.Asp368Tyr
ENST00000617928.4:c.2395G>T	ENSP00000481038.1:p.Asp799Tyr
ENST00000619290.4:n.788G>T
ENST00000619348.4:n.1542G>T
NM_001033028.1:c.1102G>T	NP_001028200.1:p.Asp368Tyr
NM_001287810.1:c.2395G>T	NP_001274739.1:p.Asp799Tyr
NM_014608.3:c.2395G>T	NP_055423.1:p.Asp799Tyr
XM_011543873.1:c.2794G>T	XP_011542175.1:p.Asp932Tyr
XM_011543874.1:c.2794G>T	XP_011542176.1:p.Asp932Tyr
XM_011543875.1:c.2794G>T	XP_011542177.1:p.Asp932Tyr
XM_011543876.1:c.2389G>T	XP_011542178.1:p.Asp797Tyr
NM_001033028.2:c.1102G>T	NP_001028200.1:p.Asp368Tyr
NM_001287810.3:c.2395G>T	NP_001274739.1:p.Asp799Tyr
NM_001324119.2:c.2497G>T	NP_001311048.1:p.Asp833Tyr
NM_001324120.2:c.2395G>T	NP_001311049.1:p.Asp799Tyr
NM_001324122.2:c.715G>T	NP_001311051.1:p.Asp239Tyr
NM_001324123.2:c.2395G>T	NP_001311052.1:p.Asp799Tyr
NM_001324124.2:c.2305G>T	NP_001311053.1:p.Asp769Tyr
NM_001324125.2:c.2029G>T	NP_001311054.1:p.Asp677Tyr
NM_001324126.2:c.2293G>T	NP_001311055.1:p.Asp765Tyr
NM_014608.5:c.2395G>T	NP_055423.1:p.Asp799Tyr
XM_011543873.3:c.2794G>T	XP_011542175.1:p.Asp932Tyr
XM_011543874.2:c.2794G>T	XP_011542176.1:p.Asp932Tyr
XM_011543876.3:c.2491G>T	XP_011542178.2:p.Asp831Tyr
XM_017022023.2:c.2896G>T	XP_016877512.1:p.Asp966Tyr
XM_017022024.2:c.2794G>T	XP_016877513.1:p.Asp932Tyr
XM_024449876.1:c.2794G>T	XP_024305644.1:p.Asp932Tyr
XM_024449877.1:c.2395G>T	XP_024305645.1:p.Asp799Tyr
NM_014608.6:c.2395G>T MANE Select	NP_055423.1:p.Asp799Tyr
NM_001287810.4:c.2395G>T	NP_001274739.1:p.Asp799Tyr
NM_001324122.3:c.715G>T	NP_001311051.1:p.Asp239Tyr
NM_001324123.3:c.2395G>T	NP_001311052.1:p.Asp799Tyr
NM_001324124.3:c.2305G>T	NP_001311053.1:p.Asp769Tyr
NM_001324125.3:c.2029G>T	NP_001311054.1:p.Asp677Tyr
NM_001324126.3:c.2293G>T	NP_001311055.1:p.Asp765Tyr
NM_001033028.3:c.1102G>T	NP_001028200.1:p.Asp368Tyr