Canonical Allele Identifier: CA5136357

Gene: FBP1

Linked Data

• ClinVar Variation Id: 2914634
• ClinVar RCV Id: RCV003601908
• dbSNP Id: rs769000568
• ExAC: 9:97401554 G / A
• gnomAD v2: 9-97401554-G-A
• gnomAD v3: 9-94639272-G-A
• gnomAD v4: 9-94639272-G-A
• MyVariant Identifiers: chr9:g.97401554G>A (hg19) ; chr9:g.94639272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639272G>A , CM000671.2:g.94639272G>A	GRCh38
NC_000009.11:g.97401554G>A , CM000671.1:g.97401554G>A	GRCh37
NC_000009.10:g.96441375G>A	NCBI36
NG_008174.1:g.5978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.39C>T	ENSP00000507547.1:p.Thr13=
ENST00000375326.9:c.39C>T MANE Select	ENSP00000364475.5:p.Thr13=
ENST00000375326.8:c.39C>T	ENSP00000364475.4:p.Thr13=
ENST00000414122.1:c.-83+772C>T	ENSP00000411619.1:n.-83+772C>T
ENST00000415431.5:c.39C>T	ENSP00000408025.1:p.Thr13=
NM_000507.3:c.39C>T	NP_000498.2:p.Thr13=
NM_001127628.1:c.39C>T	NP_001121100.1:p.Thr13=
XM_006717005.2:c.-77+772C>T	XP_006717068.1:n.-77+772C>T
XM_006717005.4:c.-77+772C>T	XP_006717068.1:n.-77+772C>T
NM_000507.4:c.39C>T MANE Select	NP_000498.2:p.Thr13=
NM_001127628.2:c.39C>T	NP_001121100.1:p.Thr13=