Canonical Allele Identifier: CA374335069
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1354087816
gnomAD v2: 9-97401463-C-T
gnomAD v4: 9-94639181-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639181C>T , CM000671.2:g.94639181C>T GRCh38
NC_000009.11:g.97401463C>T , CM000671.1:g.97401463C>T GRCh37
NC_000009.10:g.96441284C>T NCBI36
NG_008174.1:g.6069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.130G>A ENSP00000507547.1:p.Ala44Thr
ENST00000375326.9:c.130G>A MANE Select ENSP00000364475.5:p.Ala44Thr
ENST00000375326.8:c.130G>A ENSP00000364475.4:p.Ala44Thr
ENST00000414122.1:c.-83+863G>A ENSP00000411619.1:n.-83+863G>A
ENST00000415431.5:c.130G>A ENSP00000408025.1:p.Ala44Thr
NM_000507.3:c.130G>A NP_000498.2:p.Ala44Thr
NM_001127628.1:c.130G>A NP_001121100.1:p.Ala44Thr
XM_006717005.2:c.-77+863G>A XP_006717068.1:n.-77+863G>A
XM_006717005.4:c.-77+863G>A XP_006717068.1:n.-77+863G>A
NM_000507.4:c.130G>A MANE Select NP_000498.2:p.Ala44Thr
NM_001127628.2:c.130G>A NP_001121100.1:p.Ala44Thr