Canonical Allele Identifier: CA391334407

Gene: CYFIP1

Linked Data

• gnomAD v4: 15-22903776-T-C
• MyVariant Identifiers: chr15:g.22969292A>G (hg19) ; chr15:g.22903776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903776T>C , CM000677.2:g.22903776T>C	GRCh38
NC_000015.9:g.22969292A>G , CM000677.1:g.22969292A>G	GRCh37
NC_000015.8:g.20520733A>G	NCBI36
NG_054889.1:g.82131A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2512A>G	ENSP00000479802.2:p.Thr838Ala
ENST00000617928.5:c.2518A>G MANE Select	ENSP00000481038.1:p.Thr840Ala
ENST00000610365.4:c.2518A>G	ENSP00000478779.1:p.Thr840Ala
ENST00000617556.4:c.1225A>G	ENSP00000480525.1:p.Thr409Ala
ENST00000617928.4:c.2518A>G	ENSP00000481038.1:p.Thr840Ala
ENST00000619290.4:n.911A>G
ENST00000619348.4:n.1665A>G
NM_001033028.1:c.1225A>G	NP_001028200.1:p.Thr409Ala
NM_001287810.1:c.2518A>G	NP_001274739.1:p.Thr840Ala
NM_014608.3:c.2518A>G	NP_055423.1:p.Thr840Ala
XM_011543873.1:c.2917A>G	XP_011542175.1:p.Thr973Ala
XM_011543874.1:c.2917A>G	XP_011542176.1:p.Thr973Ala
XM_011543875.1:c.2917A>G	XP_011542177.1:p.Thr973Ala
XM_011543876.1:c.2512A>G	XP_011542178.1:p.Thr838Ala
NM_001033028.2:c.1225A>G	NP_001028200.1:p.Thr409Ala
NM_001287810.3:c.2518A>G	NP_001274739.1:p.Thr840Ala
NM_001324119.2:c.2620A>G	NP_001311048.1:p.Thr874Ala
NM_001324120.2:c.2518A>G	NP_001311049.1:p.Thr840Ala
NM_001324122.2:c.838A>G	NP_001311051.1:p.Thr280Ala
NM_001324123.2:c.2518A>G	NP_001311052.1:p.Thr840Ala
NM_001324124.2:c.2428A>G	NP_001311053.1:p.Thr810Ala
NM_001324125.2:c.2152A>G	NP_001311054.1:p.Thr718Ala
NM_001324126.2:c.2416A>G	NP_001311055.1:p.Thr806Ala
NM_014608.5:c.2518A>G	NP_055423.1:p.Thr840Ala
XM_011543873.3:c.2917A>G	XP_011542175.1:p.Thr973Ala
XM_011543874.2:c.2917A>G	XP_011542176.1:p.Thr973Ala
XM_011543876.3:c.2614A>G	XP_011542178.2:p.Thr872Ala
XM_017022023.2:c.3019A>G	XP_016877512.1:p.Thr1007Ala
XM_017022024.2:c.2917A>G	XP_016877513.1:p.Thr973Ala
XM_024449876.1:c.2917A>G	XP_024305644.1:p.Thr973Ala
XM_024449877.1:c.2518A>G	XP_024305645.1:p.Thr840Ala
NM_014608.6:c.2518A>G MANE Select	NP_055423.1:p.Thr840Ala
NM_001287810.4:c.2518A>G	NP_001274739.1:p.Thr840Ala
NM_001324122.3:c.838A>G	NP_001311051.1:p.Thr280Ala
NM_001324123.3:c.2518A>G	NP_001311052.1:p.Thr840Ala
NM_001324124.3:c.2428A>G	NP_001311053.1:p.Thr810Ala
NM_001324125.3:c.2152A>G	NP_001311054.1:p.Thr718Ala
NM_001324126.3:c.2416A>G	NP_001311055.1:p.Thr806Ala
NM_001033028.3:c.1225A>G	NP_001028200.1:p.Thr409Ala