Canonical Allele Identifier: CA374335227
Gene: FBP1 HGNC NCBI

Linked Data

gnomAD v4: 9-94639253-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639253C>G , CM000671.2:g.94639253C>G GRCh38
NC_000009.11:g.97401535C>G , CM000671.1:g.97401535C>G GRCh37
NC_000009.10:g.96441356C>G NCBI36
NG_008174.1:g.5997G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.58G>C ENSP00000507547.1:p.Glu20Gln
ENST00000375326.9:c.58G>C MANE Select ENSP00000364475.5:p.Glu20Gln
ENST00000375326.8:c.58G>C ENSP00000364475.4:p.Glu20Gln
ENST00000414122.1:c.-83+791G>C ENSP00000411619.1:n.-83+791G>C
ENST00000415431.5:c.58G>C ENSP00000408025.1:p.Glu20Gln
NM_000507.3:c.58G>C NP_000498.2:p.Glu20Gln
NM_001127628.1:c.58G>C NP_001121100.1:p.Glu20Gln
XM_006717005.2:c.-77+791G>C XP_006717068.1:n.-77+791G>C
XM_006717005.4:c.-77+791G>C XP_006717068.1:n.-77+791G>C
NM_000507.4:c.58G>C MANE Select NP_000498.2:p.Glu20Gln
NM_001127628.2:c.58G>C NP_001121100.1:p.Glu20Gln