Canonical Allele Identifier: CA5136349

Gene: FBP1

Linked Data

• ClinVar Variation Id: 2873098
• ClinVar RCV Id: RCV003600151
• dbSNP Id: rs578183426
• ExAC: 9:97401530 C / T
• gnomAD v2: 9-97401530-C-T
• gnomAD v3: 9-94639248-C-T
• gnomAD v4: 9-94639248-C-T
• MyVariant Identifiers: chr9:g.97401530C>T (hg19) ; chr9:g.94639248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639248C>T , CM000671.2:g.94639248C>T	GRCh38
NC_000009.11:g.97401530C>T , CM000671.1:g.97401530C>T	GRCh37
NC_000009.10:g.96441351C>T	NCBI36
NG_008174.1:g.6002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.63G>A	ENSP00000507547.1:p.Glu21=
ENST00000375326.9:c.63G>A MANE Select	ENSP00000364475.5:p.Glu21=
ENST00000375326.8:c.63G>A	ENSP00000364475.4:p.Glu21=
ENST00000414122.1:c.-83+796G>A	ENSP00000411619.1:n.-83+796G>A
ENST00000415431.5:c.63G>A	ENSP00000408025.1:p.Glu21=
NM_000507.3:c.63G>A	NP_000498.2:p.Glu21=
NM_001127628.1:c.63G>A	NP_001121100.1:p.Glu21=
XM_006717005.2:c.-77+796G>A	XP_006717068.1:n.-77+796G>A
XM_006717005.4:c.-77+796G>A	XP_006717068.1:n.-77+796G>A
NM_000507.4:c.63G>A MANE Select	NP_000498.2:p.Glu21=
NM_001127628.2:c.63G>A	NP_001121100.1:p.Glu21=