Canonical Allele Identifier: CA323535

Gene: FBP1

Linked Data

• ClinVar Variation Id: 214359
• ClinVar RCV Id: RCV000198991 ; RCV000285901
• dbSNP Id: rs140222720
• ExAC: 9:97369132 C / T
• gnomAD v2: 9-97369132-C-T
• gnomAD v3: 9-94606850-C-T
• gnomAD v4: 9-94606850-C-T
• MyVariant Identifiers: chr9:g.97369132C>T (hg19) ; chr9:g.94606850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94606850C>T , CM000671.2:g.94606850C>T	GRCh38
NC_000009.11:g.97369132C>T , CM000671.1:g.97369132C>T	GRCh37
NC_000009.10:g.96408953C>T	NCBI36
NG_008174.1:g.38400G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682520.1:c.830G>A	ENSP00000507547.1:n.830G>A
ENST00000375326.9:c.670G>A MANE Select	ENSP00000364475.5:p.Val224Ile
ENST00000648117.1:c.475G>A	ENSP00000498145.1:p.Val159Ile
ENST00000375326.8:c.670G>A	ENSP00000364475.4:p.Val224Ile
ENST00000414122.1:c.418G>A	ENSP00000411619.1:p.Val140Ile
ENST00000415431.5:c.670G>A	ENSP00000408025.1:p.Val224Ile
NM_000507.3:c.670G>A	NP_000498.2:p.Val224Ile
NM_001127628.1:c.670G>A	NP_001121100.1:p.Val224Ile
XM_006717005.2:c.424G>A	XP_006717068.1:p.Val142Ile
XM_006717005.4:c.424G>A	XP_006717068.1:p.Val142Ile
NM_000507.4:c.670G>A MANE Select	NP_000498.2:p.Val224Ile
NM_001127628.2:c.670G>A	NP_001121100.1:p.Val224Ile