Canonical Allele Identifier: CA466099961
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1354883530
gnomAD v3: 9-94606839-G-A
gnomAD v4: 9-94606839-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94606839G>A , CM000671.2:g.94606839G>A GRCh38
NC_000009.11:g.97369121G>A , CM000671.1:g.97369121G>A GRCh37
NC_000009.10:g.96408942G>A NCBI36
NG_008174.1:g.38411C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.841C>T ENSP00000507547.1:n.841C>T
ENST00000375326.9:c.681C>T MANE Select ENSP00000364475.5:p.Tyr227=
ENST00000648117.1:c.486C>T ENSP00000498145.1:p.Tyr162=
ENST00000375326.8:c.681C>T ENSP00000364475.4:p.Tyr227=
ENST00000414122.1:c.429C>T ENSP00000411619.1:p.Tyr143=
ENST00000415431.5:c.681C>T ENSP00000408025.1:p.Tyr227=
NM_000507.3:c.681C>T NP_000498.2:p.Tyr227=
NM_001127628.1:c.681C>T NP_001121100.1:p.Tyr227=
XM_006717005.2:c.435C>T XP_006717068.1:p.Tyr145=
XM_006717005.4:c.435C>T XP_006717068.1:p.Tyr145=
NM_000507.4:c.681C>T MANE Select NP_000498.2:p.Tyr227=
NM_001127628.2:c.681C>T NP_001121100.1:p.Tyr227=