Canonical Allele Identifier: CA196572226
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs200720843
gnomAD v2: 9-97401546-C-A
gnomAD v4: 9-94639264-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639264C>A , CM000671.2:g.94639264C>A GRCh38
NC_000009.11:g.97401546C>A , CM000671.1:g.97401546C>A GRCh37
NC_000009.10:g.96441367C>A NCBI36
NG_008174.1:g.5986G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.47G>T ENSP00000507547.1:p.Arg16Leu
ENST00000375326.9:c.47G>T MANE Select ENSP00000364475.5:p.Arg16Leu
ENST00000375326.8:c.47G>T ENSP00000364475.4:p.Arg16Leu
ENST00000414122.1:c.-83+780G>T ENSP00000411619.1:n.-83+780G>T
ENST00000415431.5:c.47G>T ENSP00000408025.1:p.Arg16Leu
NM_000507.3:c.47G>T NP_000498.2:p.Arg16Leu
NM_001127628.1:c.47G>T NP_001121100.1:p.Arg16Leu
XM_006717005.2:c.-77+780G>T XP_006717068.1:n.-77+780G>T
XM_006717005.4:c.-77+780G>T XP_006717068.1:n.-77+780G>T
NM_000507.4:c.47G>T MANE Select NP_000498.2:p.Arg16Leu
NM_001127628.2:c.47G>T NP_001121100.1:p.Arg16Leu