Canonical Allele Identifier: CA374106110
Gene: FBP1 HGNC NCBI

Linked Data

gnomAD v4: 9-94603554-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94603554A>G , CM000671.2:g.94603554A>G GRCh38
NC_000009.11:g.97365836A>G , CM000671.1:g.97365836A>G GRCh37
NC_000009.10:g.96405657A>G NCBI36
NG_008174.1:g.41696T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.1004T>C ENSP00000507547.1:n.1004T>C
ENST00000375326.9:c.844T>C MANE Select ENSP00000364475.5:p.Cys282Arg
ENST00000648117.1:c.649T>C ENSP00000498145.1:p.Cys217Arg
ENST00000375326.8:c.844T>C ENSP00000364475.4:p.Cys282Arg
ENST00000415431.5:c.844T>C ENSP00000408025.1:p.Cys282Arg
NM_000507.3:c.844T>C NP_000498.2:p.Cys282Arg
NM_001127628.1:c.844T>C NP_001121100.1:p.Cys282Arg
XM_006717005.2:c.598T>C XP_006717068.1:p.Cys200Arg
XM_006717005.4:c.598T>C XP_006717068.1:p.Cys200Arg
NM_000507.4:c.844T>C MANE Select NP_000498.2:p.Cys282Arg
NM_001127628.2:c.844T>C NP_001121100.1:p.Cys282Arg