Canonical Allele Identifier: CA5136172
Gene: FBP1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.94606867C>T
GRCh37 chr9:g.97369149C>T
Revel Score:
ENST00000375326 (MANE Select) 0.083
ENST00000415431 0.083
ENST00000414122 0.083
gnomAD v2:
9:97369149 C / T
gnomAD v3:
9:94606867 C / T
gnomAD v4:
chr9-94606867-C-T
Joint Max Group AF 0.9919365 (EAS)
Genomes Max Group AF 0.97873103 (AFR)
Exomes Max Group AF 0.99148265 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94606867C>T , CM000671.2:g.94606867C>T GRCh38
NC_000009.11:g.97369149C>T , CM000671.1:g.97369149C>T GRCh37
NC_000009.10:g.96408970C>T NCBI36
NG_008174.1:g.38383G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.813G>A ENSP00000507547.1:n.813G>A
ENST00000375326.9:c.653G>A MANE Select ENSP00000364475.5:p.Arg218Lys
ENST00000648117.1:c.458G>A ENSP00000498145.1:p.Arg153Lys
ENST00000375326.8:c.653G>A ENSP00000364475.4:p.Arg218Lys
ENST00000414122.1:c.401G>A ENSP00000411619.1:p.Arg134Lys
ENST00000415431.5:c.653G>A ENSP00000408025.1:p.Arg218Lys
NM_000507.3:c.653G>A NP_000498.2:p.Arg218Lys
NM_001127628.1:c.653G>A NP_001121100.1:p.Arg218Lys
XM_006717005.2:c.407G>A XP_006717068.1:p.Arg136Lys
XM_006717005.4:c.407G>A XP_006717068.1:p.Arg136Lys
NM_000507.4:c.653G>A MANE Select NP_000498.2:p.Arg218Lys
NM_001127628.2:c.653G>A NP_001121100.1:p.Arg218Lys
Search 100 bp 5'
Search 100 bp 3'