Canonical Allele Identifier: CA383238455

Gene: FLI1

Linked Data

• gnomAD v4: 11-128810476-C-A
• MyVariant Identifiers: chr11:g.128680371C>A (hg19) ; chr11:g.128810476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810476C>A , CM000673.2:g.128810476C>A	GRCh38
NC_000011.9:g.128680371C>A , CM000673.1:g.128680371C>A	GRCh37
NC_000011.8:g.128185581C>A	NCBI36
NG_032912.1:g.128942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696982.1:c.868C>A	ENSP00000513017.1:p.Leu290Met
ENST00000527786.7:c.847C>A MANE Select	ENSP00000433488.2:p.Leu283Met
ENST00000281428.12:c.649C>A	ENSP00000281428.8:p.Leu217Met
ENST00000344954.10:c.268C>A	ENSP00000339627.7:p.Leu90Met
ENST00000429175.7:c.*769C>A	ENSP00000399985.3:n.*769C>A
ENST00000527786.6:c.847C>A	ENSP00000433488.2:p.Leu283Met
ENST00000528790.1:n.3430C>A
ENST00000534087.3:c.748C>A	ENSP00000432950.1:p.Leu250Met
ENST00000608303.5:c.*239C>A	ENSP00000477262.1:n.*239C>A
NM_001167681.2:c.748C>A	NP_001161153.1:p.Leu250Met
NM_001271010.1:c.649C>A	NP_001257939.1:p.Leu217Met
NM_001271012.1:c.268C>A	NP_001257941.1:p.Leu90Met
NM_002017.4:c.847C>A	NP_002008.2:p.Leu283Met
XM_011542701.1:c.748C>A	XP_011541003.1:p.Leu250Met
XM_011542702.1:c.721C>A	XP_011541004.1:p.Leu241Met
XM_011542701.2:c.748C>A	XP_011541003.1:p.Leu250Met
XM_017017405.1:c.748C>A	XP_016872894.1:p.Leu250Met
XM_017017406.1:c.748C>A	XP_016872895.1:p.Leu250Met
NM_002017.5:c.847C>A MANE Select	NP_002008.2:p.Leu283Met
NM_001167681.3:c.748C>A	NP_001161153.1:p.Leu250Met
NM_001271010.2:c.649C>A	NP_001257939.1:p.Leu217Met
NM_001271012.2:c.268C>A	NP_001257941.1:p.Leu90Met