Canonical Allele Identifier: CA2600260891
Gene: FBP1 HGNC NCBI

Linked Data

gnomAD v3: 9-94639445-G-A
gnomAD v4: 9-94639445-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639445G>A , CM000671.2:g.94639445G>A GRCh38
NC_000009.11:g.97401727G>A , CM000671.1:g.97401727G>A GRCh37
NC_000009.10:g.96441548G>A NCBI36
NG_008174.1:g.5805C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375326.9:c.-135C>T MANE Select ENSP00000364475.5:n.-135C>T
ENST00000375326.8:c.-135C>T ENSP00000364475.4:n.-135C>T
ENST00000414122.1:c.-83+599C>T ENSP00000411619.1:n.-83+599C>T
ENST00000415431.5:c.-24-111C>T ENSP00000408025.1:n.-24-111C>T
NM_000507.3:c.-135C>T NP_000498.2:n.-135C>T
NM_001127628.1:c.-24-111C>T NP_001121100.1:n.-24-111C>T
XM_006717005.2:c.-77+599C>T XP_006717068.1:n.-77+599C>T
XM_006717005.4:c.-77+599C>T XP_006717068.1:n.-77+599C>T
NM_000507.4:c.-135C>T MANE Select NP_000498.2:n.-135C>T
NM_001127628.2:c.-24-111C>T NP_001121100.1:n.-24-111C>T