Canonical Allele Identifier: CA374106682

Gene: FBP1

Linked Data

• ClinVar Variation Id: 2555584
• ClinVar RCV Id: RCV003295242
• gnomAD v4: 9-94606844-C-T
• COSMIC: COSM3849132
• MyVariant Identifiers: chr9:g.97369126C>T (hg19) ; chr9:g.94606844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94606844C>T , CM000671.2:g.94606844C>T	GRCh38
NC_000009.11:g.97369126C>T , CM000671.1:g.97369126C>T	GRCh37
NC_000009.10:g.96408947C>T	NCBI36
NG_008174.1:g.38406G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682520.1:c.836G>A	ENSP00000507547.1:n.836G>A
ENST00000375326.9:c.676G>A MANE Select	ENSP00000364475.5:p.Glu226Lys
ENST00000648117.1:c.481G>A	ENSP00000498145.1:p.Glu161Lys
ENST00000375326.8:c.676G>A	ENSP00000364475.4:p.Glu226Lys
ENST00000414122.1:c.424G>A	ENSP00000411619.1:p.Glu142Lys
ENST00000415431.5:c.676G>A	ENSP00000408025.1:p.Glu226Lys
NM_000507.3:c.676G>A	NP_000498.2:p.Glu226Lys
NM_001127628.1:c.676G>A	NP_001121100.1:p.Glu226Lys
XM_006717005.2:c.430G>A	XP_006717068.1:p.Glu144Lys
XM_006717005.4:c.430G>A	XP_006717068.1:p.Glu144Lys
NM_000507.4:c.676G>A MANE Select	NP_000498.2:p.Glu226Lys
NM_001127628.2:c.676G>A	NP_001121100.1:p.Glu226Lys