Canonical Allele Identifier: CA488526440

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969315C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903753G>A , CM000677.2:g.22903753G>A	GRCh38
NC_000015.9:g.22969315C>T , CM000677.1:g.22969315C>T	GRCh37
NC_000015.8:g.20520756C>T	NCBI36
NG_054889.1:g.82154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2535C>T	ENSP00000479802.2:p.Leu845=
ENST00000617928.5:c.2541C>T MANE Select	ENSP00000481038.1:p.Leu847=
ENST00000610365.4:c.2541C>T	ENSP00000478779.1:p.Leu847=
ENST00000617556.4:c.1248C>T	ENSP00000480525.1:p.Leu416=
ENST00000617928.4:c.2541C>T	ENSP00000481038.1:p.Leu847=
ENST00000619348.4:n.1688C>T
NM_001033028.1:c.1248C>T	NP_001028200.1:p.Leu416=
NM_001287810.1:c.2541C>T	NP_001274739.1:p.Leu847=
NM_014608.3:c.2541C>T	NP_055423.1:p.Leu847=
XM_011543873.1:c.2940C>T	XP_011542175.1:p.Leu980=
XM_011543874.1:c.2940C>T	XP_011542176.1:p.Leu980=
XM_011543875.1:c.2940C>T	XP_011542177.1:p.Leu980=
XM_011543876.1:c.2535C>T	XP_011542178.1:p.Leu845=
NM_001033028.2:c.1248C>T	NP_001028200.1:p.Leu416=
NM_001287810.3:c.2541C>T	NP_001274739.1:p.Leu847=
NM_001324119.2:c.2643C>T	NP_001311048.1:p.Leu881=
NM_001324120.2:c.2541C>T	NP_001311049.1:p.Leu847=
NM_001324122.2:c.861C>T	NP_001311051.1:p.Leu287=
NM_001324123.2:c.2541C>T	NP_001311052.1:p.Leu847=
NM_001324124.2:c.2451C>T	NP_001311053.1:p.Leu817=
NM_001324125.2:c.2175C>T	NP_001311054.1:p.Leu725=
NM_001324126.2:c.2439C>T	NP_001311055.1:p.Leu813=
NM_014608.5:c.2541C>T	NP_055423.1:p.Leu847=
XM_011543873.3:c.2940C>T	XP_011542175.1:p.Leu980=
XM_011543874.2:c.2940C>T	XP_011542176.1:p.Leu980=
XM_011543876.3:c.2637C>T	XP_011542178.2:p.Leu879=
XM_017022023.2:c.3042C>T	XP_016877512.1:p.Leu1014=
XM_017022024.2:c.2940C>T	XP_016877513.1:p.Leu980=
XM_024449876.1:c.2940C>T	XP_024305644.1:p.Leu980=
XM_024449877.1:c.2541C>T	XP_024305645.1:p.Leu847=
NM_014608.6:c.2541C>T MANE Select	NP_055423.1:p.Leu847=
NM_001287810.4:c.2541C>T	NP_001274739.1:p.Leu847=
NM_001324122.3:c.861C>T	NP_001311051.1:p.Leu287=
NM_001324123.3:c.2541C>T	NP_001311052.1:p.Leu847=
NM_001324124.3:c.2451C>T	NP_001311053.1:p.Leu817=
NM_001324125.3:c.2175C>T	NP_001311054.1:p.Leu725=
NM_001324126.3:c.2439C>T	NP_001311055.1:p.Leu813=
NM_001033028.3:c.1248C>T	NP_001028200.1:p.Leu416=