Canonical Allele Identifier: CA466098917

Gene: FBP1

Linked Data

• ClinVar Variation Id: 2809283
• ClinVar RCV Id: RCV003601511
• dbSNP Id: rs1211553665
• gnomAD v2: 9-97365834-G-A
• gnomAD v3: 9-94603552-G-A
• gnomAD v4: 9-94603552-G-A
• MyVariant Identifiers: chr9:g.97365834G>A (hg19) ; chr9:g.94603552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94603552G>A , CM000671.2:g.94603552G>A	GRCh38
NC_000009.11:g.97365834G>A , CM000671.1:g.97365834G>A	GRCh37
NC_000009.10:g.96405655G>A	NCBI36
NG_008174.1:g.41698C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.1006C>T	ENSP00000507547.1:n.1006C>T
ENST00000375326.9:c.846C>T MANE Select	ENSP00000364475.5:p.Cys282=
ENST00000648117.1:c.651C>T	ENSP00000498145.1:p.Cys217=
ENST00000375326.8:c.846C>T	ENSP00000364475.4:p.Cys282=
ENST00000415431.5:c.846C>T	ENSP00000408025.1:p.Cys282=
NM_000507.3:c.846C>T	NP_000498.2:p.Cys282=
NM_001127628.1:c.846C>T	NP_001121100.1:p.Cys282=
XM_006717005.2:c.600C>T	XP_006717068.1:p.Cys200=
XM_006717005.4:c.600C>T	XP_006717068.1:p.Cys200=
NM_000507.4:c.846C>T MANE Select	NP_000498.2:p.Cys282=
NM_001127628.2:c.846C>T	NP_001121100.1:p.Cys282=