Canonical Allele Identifier: CA374335066
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1290985405
gnomAD v2: 9-97401462-G-T
gnomAD v4: 9-94639180-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639180G>T , CM000671.2:g.94639180G>T GRCh38
NC_000009.11:g.97401462G>T , CM000671.1:g.97401462G>T GRCh37
NC_000009.10:g.96441283G>T NCBI36
NG_008174.1:g.6070C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.131C>A ENSP00000507547.1:p.Ala44Asp
ENST00000375326.9:c.131C>A MANE Select ENSP00000364475.5:p.Ala44Asp
ENST00000375326.8:c.131C>A ENSP00000364475.4:p.Ala44Asp
ENST00000414122.1:c.-83+864C>A ENSP00000411619.1:n.-83+864C>A
ENST00000415431.5:c.131C>A ENSP00000408025.1:p.Ala44Asp
NM_000507.3:c.131C>A NP_000498.2:p.Ala44Asp
NM_001127628.1:c.131C>A NP_001121100.1:p.Ala44Asp
XM_006717005.2:c.-77+864C>A XP_006717068.1:n.-77+864C>A
XM_006717005.4:c.-77+864C>A XP_006717068.1:n.-77+864C>A
NM_000507.4:c.131C>A MANE Select NP_000498.2:p.Ala44Asp
NM_001127628.2:c.131C>A NP_001121100.1:p.Ala44Asp