Canonical Allele Identifier: CA374106511
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1388609291
gnomAD v3: 9-94605555-C-T
gnomAD v4: 9-94605555-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94605555C>T , CM000671.2:g.94605555C>T GRCh38
NC_000009.11:g.97367837C>T , CM000671.1:g.97367837C>T GRCh37
NC_000009.10:g.96407658C>T NCBI36
NG_008174.1:g.39695G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.887G>A ENSP00000507547.1:n.887G>A
ENST00000375326.9:c.727G>A MANE Select ENSP00000364475.5:p.Ala243Thr
ENST00000648117.1:c.532G>A ENSP00000498145.1:p.Ala178Thr
ENST00000375326.8:c.727G>A ENSP00000364475.4:p.Ala243Thr
ENST00000415431.5:c.727G>A ENSP00000408025.1:p.Ala243Thr
NM_000507.3:c.727G>A NP_000498.2:p.Ala243Thr
NM_001127628.1:c.727G>A NP_001121100.1:p.Ala243Thr
XM_006717005.2:c.481G>A XP_006717068.1:p.Ala161Thr
XM_006717005.4:c.481G>A XP_006717068.1:p.Ala161Thr
NM_000507.4:c.727G>A MANE Select NP_000498.2:p.Ala243Thr
NM_001127628.2:c.727G>A NP_001121100.1:p.Ala243Thr