Canonical Allele Identifier: CA488526517

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969178T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903890A>G , CM000677.2:g.22903890A>G	GRCh38
NC_000015.9:g.22969178T>C , CM000677.1:g.22969178T>C	GRCh37
NC_000015.8:g.20520619T>C	NCBI36
NG_054889.1:g.82017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2398T>C	ENSP00000479802.2:p.Leu800=
ENST00000617928.5:c.2404T>C MANE Select	ENSP00000481038.1:p.Leu802=
ENST00000610365.4:c.2404T>C	ENSP00000478779.1:p.Leu802=
ENST00000617556.4:c.1111T>C	ENSP00000480525.1:p.Leu371=
ENST00000617928.4:c.2404T>C	ENSP00000481038.1:p.Leu802=
ENST00000619290.4:n.797T>C
ENST00000619348.4:n.1551T>C
NM_001033028.1:c.1111T>C	NP_001028200.1:p.Leu371=
NM_001287810.1:c.2404T>C	NP_001274739.1:p.Leu802=
NM_014608.3:c.2404T>C	NP_055423.1:p.Leu802=
XM_011543873.1:c.2803T>C	XP_011542175.1:p.Leu935=
XM_011543874.1:c.2803T>C	XP_011542176.1:p.Leu935=
XM_011543875.1:c.2803T>C	XP_011542177.1:p.Leu935=
XM_011543876.1:c.2398T>C	XP_011542178.1:p.Leu800=
NM_001033028.2:c.1111T>C	NP_001028200.1:p.Leu371=
NM_001287810.3:c.2404T>C	NP_001274739.1:p.Leu802=
NM_001324119.2:c.2506T>C	NP_001311048.1:p.Leu836=
NM_001324120.2:c.2404T>C	NP_001311049.1:p.Leu802=
NM_001324122.2:c.724T>C	NP_001311051.1:p.Leu242=
NM_001324123.2:c.2404T>C	NP_001311052.1:p.Leu802=
NM_001324124.2:c.2314T>C	NP_001311053.1:p.Leu772=
NM_001324125.2:c.2038T>C	NP_001311054.1:p.Leu680=
NM_001324126.2:c.2302T>C	NP_001311055.1:p.Leu768=
NM_014608.5:c.2404T>C	NP_055423.1:p.Leu802=
XM_011543873.3:c.2803T>C	XP_011542175.1:p.Leu935=
XM_011543874.2:c.2803T>C	XP_011542176.1:p.Leu935=
XM_011543876.3:c.2500T>C	XP_011542178.2:p.Leu834=
XM_017022023.2:c.2905T>C	XP_016877512.1:p.Leu969=
XM_017022024.2:c.2803T>C	XP_016877513.1:p.Leu935=
XM_024449876.1:c.2803T>C	XP_024305644.1:p.Leu935=
XM_024449877.1:c.2404T>C	XP_024305645.1:p.Leu802=
NM_014608.6:c.2404T>C MANE Select	NP_055423.1:p.Leu802=
NM_001287810.4:c.2404T>C	NP_001274739.1:p.Leu802=
NM_001324122.3:c.724T>C	NP_001311051.1:p.Leu242=
NM_001324123.3:c.2404T>C	NP_001311052.1:p.Leu802=
NM_001324124.3:c.2314T>C	NP_001311053.1:p.Leu772=
NM_001324125.3:c.2038T>C	NP_001311054.1:p.Leu680=
NM_001324126.3:c.2302T>C	NP_001311055.1:p.Leu768=
NM_001033028.3:c.1111T>C	NP_001028200.1:p.Leu371=