Canonical Allele Identifier: CA5136359

Gene: FBP1

Linked Data

• ClinVar Variation Id: 2907312
• ClinVar RCV Id: RCV003601245
• dbSNP Id: rs748356162
• ExAC: 9:97401566 C / G
• gnomAD v2: 9-97401566-C-G
• gnomAD v3: 9-94639284-C-G
• gnomAD v4: 9-94639284-C-G
• MyVariant Identifiers: chr9:g.97401566C>G (hg19) ; chr9:g.94639284C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639284C>G , CM000671.2:g.94639284C>G	GRCh38
NC_000009.11:g.97401566C>G , CM000671.1:g.97401566C>G	GRCh37
NC_000009.10:g.96441387C>G	NCBI36
NG_008174.1:g.5966G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.27G>C	ENSP00000507547.1:p.Thr9=
ENST00000375326.9:c.27G>C MANE Select	ENSP00000364475.5:p.Thr9=
ENST00000375326.8:c.27G>C	ENSP00000364475.4:p.Thr9=
ENST00000414122.1:c.-83+760G>C	ENSP00000411619.1:n.-83+760G>C
ENST00000415431.5:c.27G>C	ENSP00000408025.1:p.Thr9=
NM_000507.3:c.27G>C	NP_000498.2:p.Thr9=
NM_001127628.1:c.27G>C	NP_001121100.1:p.Thr9=
XM_006717005.2:c.-77+760G>C	XP_006717068.1:n.-77+760G>C
XM_006717005.4:c.-77+760G>C	XP_006717068.1:n.-77+760G>C
NM_000507.4:c.27G>C MANE Select	NP_000498.2:p.Thr9=
NM_001127628.2:c.27G>C	NP_001121100.1:p.Thr9=