Canonical Allele Identifier: CA374106098
Gene: FBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2758463
ClinVar RCV Id: RCV003495910

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.1006C>A ENSP00000507547.1:n.1006C>A
ENST00000375326.9:c.846C>A MANE Select ENSP00000364475.5:p.Cys282Ter
ENST00000648117.1:c.651C>A ENSP00000498145.1:p.Cys217Ter
ENST00000375326.8:c.846C>A ENSP00000364475.4:p.Cys282Ter
ENST00000415431.5:c.846C>A ENSP00000408025.1:p.Cys282Ter
NM_000507.3:c.846C>A NP_000498.2:p.Cys282Ter
NM_001127628.1:c.846C>A NP_001121100.1:p.Cys282Ter
XM_006717005.2:c.600C>A XP_006717068.1:p.Cys200Ter
XM_006717005.4:c.600C>A XP_006717068.1:p.Cys200Ter
NM_000507.4:c.846C>A MANE Select NP_000498.2:p.Cys282Ter
NM_001127628.2:c.846C>A NP_001121100.1:p.Cys282Ter