Canonical Allele Identifier: CA320998

Gene: FBP1

Linked Data

• ClinVar Variation Id: 214369
• ClinVar RCV Id: RCV001167163 ; RCV003343690
• dbSNP Id: rs369420846
• ExAC: 9:97369134 G / T
• gnomAD v2: 9-97369134-G-T
• gnomAD v3: 9-94606852-G-T
• gnomAD v4: 9-94606852-G-T
• MyVariant Identifiers: chr9:g.97369134G>T (hg19) ; chr9:g.94606852G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94606852G>T , CM000671.2:g.94606852G>T	GRCh38
NC_000009.11:g.97369134G>T , CM000671.1:g.97369134G>T	GRCh37
NC_000009.10:g.96408955G>T	NCBI36
NG_008174.1:g.38398C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682520.1:c.828C>A	ENSP00000507547.1:n.828C>A
ENST00000375326.9:c.668C>A MANE Select	ENSP00000364475.5:p.Ala223Asp
ENST00000648117.1:c.473C>A	ENSP00000498145.1:p.Ala158Asp
ENST00000375326.8:c.668C>A	ENSP00000364475.4:p.Ala223Asp
ENST00000414122.1:c.416C>A	ENSP00000411619.1:p.Ala139Asp
ENST00000415431.5:c.668C>A	ENSP00000408025.1:p.Ala223Asp
NM_000507.3:c.668C>A	NP_000498.2:p.Ala223Asp
NM_001127628.1:c.668C>A	NP_001121100.1:p.Ala223Asp
XM_006717005.2:c.422C>A	XP_006717068.1:p.Ala141Asp
XM_006717005.4:c.422C>A	XP_006717068.1:p.Ala141Asp
NM_000507.4:c.668C>A MANE Select	NP_000498.2:p.Ala223Asp
NM_001127628.2:c.668C>A	NP_001121100.1:p.Ala223Asp