Canonical Allele Identifier: CA383239088

Gene: FLI1

Linked Data

• dbSNP Id: rs747021663
• gnomAD v2: 11-128680642-C-T
• gnomAD v3: 11-128810747-C-T
• gnomAD v4: 11-128810747-C-T
• MyVariant Identifiers: chr11:g.128680642C>T (hg19) ; chr11:g.128810747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810747C>T , CM000673.2:g.128810747C>T	GRCh38
NC_000011.9:g.128680642C>T , CM000673.1:g.128680642C>T	GRCh37
NC_000011.8:g.128185852C>T	NCBI36
NG_032912.1:g.129213C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696982.1:c.1139C>T	ENSP00000513017.1:p.Pro380Leu
ENST00000527786.7:c.1118C>T MANE Select	ENSP00000433488.2:p.Pro373Leu
ENST00000281428.12:c.920C>T	ENSP00000281428.8:p.Pro307Leu
ENST00000344954.10:c.539C>T	ENSP00000339627.7:p.Pro180Leu
ENST00000429175.7:c.*1040C>T	ENSP00000399985.3:n.*1040C>T
ENST00000527786.6:c.1118C>T	ENSP00000433488.2:p.Pro373Leu
ENST00000528790.1:n.3701C>T
ENST00000534087.3:c.1019C>T	ENSP00000432950.1:p.Pro340Leu
ENST00000608303.5:c.*510C>T	ENSP00000477262.1:n.*510C>T
NM_001167681.2:c.1019C>T	NP_001161153.1:p.Pro340Leu
NM_001271010.1:c.920C>T	NP_001257939.1:p.Pro307Leu
NM_001271012.1:c.539C>T	NP_001257941.1:p.Pro180Leu
NM_002017.4:c.1118C>T	NP_002008.2:p.Pro373Leu
XM_011542701.1:c.1019C>T	XP_011541003.1:p.Pro340Leu
XM_011542702.1:c.992C>T	XP_011541004.1:p.Pro331Leu
XM_011542701.2:c.1019C>T	XP_011541003.1:p.Pro340Leu
XM_017017405.1:c.1019C>T	XP_016872894.1:p.Pro340Leu
XM_017017406.1:c.1019C>T	XP_016872895.1:p.Pro340Leu
NM_002017.5:c.1118C>T MANE Select	NP_002008.2:p.Pro373Leu
NM_001167681.3:c.1019C>T	NP_001161153.1:p.Pro340Leu
NM_001271010.2:c.920C>T	NP_001257939.1:p.Pro307Leu
NM_001271012.2:c.539C>T	NP_001257941.1:p.Pro180Leu