Canonical Allele Identifier: CA383238506

Gene: FLI1

Linked Data

• gnomAD v4: 11-128810498-T-C
• MyVariant Identifiers: chr11:g.128680393T>C (hg19) ; chr11:g.128810498T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810498T>C , CM000673.2:g.128810498T>C	GRCh38
NC_000011.9:g.128680393T>C , CM000673.1:g.128680393T>C	GRCh37
NC_000011.8:g.128185603T>C	NCBI36
NG_032912.1:g.128964T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696982.1:c.890T>C	ENSP00000513017.1:p.Leu297Pro
ENST00000527786.7:c.869T>C MANE Select	ENSP00000433488.2:p.Leu290Pro
ENST00000281428.12:c.671T>C	ENSP00000281428.8:p.Leu224Pro
ENST00000344954.10:c.290T>C	ENSP00000339627.7:p.Leu97Pro
ENST00000429175.7:c.*791T>C	ENSP00000399985.3:n.*791T>C
ENST00000527786.6:c.869T>C	ENSP00000433488.2:p.Leu290Pro
ENST00000528790.1:n.3452T>C
ENST00000534087.3:c.770T>C	ENSP00000432950.1:p.Leu257Pro
ENST00000608303.5:c.*261T>C	ENSP00000477262.1:n.*261T>C
NM_001167681.2:c.770T>C	NP_001161153.1:p.Leu257Pro
NM_001271010.1:c.671T>C	NP_001257939.1:p.Leu224Pro
NM_001271012.1:c.290T>C	NP_001257941.1:p.Leu97Pro
NM_002017.4:c.869T>C	NP_002008.2:p.Leu290Pro
XM_011542701.1:c.770T>C	XP_011541003.1:p.Leu257Pro
XM_011542702.1:c.743T>C	XP_011541004.1:p.Leu248Pro
XM_011542701.2:c.770T>C	XP_011541003.1:p.Leu257Pro
XM_017017405.1:c.770T>C	XP_016872894.1:p.Leu257Pro
XM_017017406.1:c.770T>C	XP_016872895.1:p.Leu257Pro
NM_002017.5:c.869T>C MANE Select	NP_002008.2:p.Leu290Pro
NM_001167681.3:c.770T>C	NP_001161153.1:p.Leu257Pro
NM_001271010.2:c.671T>C	NP_001257939.1:p.Leu224Pro
NM_001271012.2:c.290T>C	NP_001257941.1:p.Leu97Pro