Canonical Allele Identifier: CA5136042
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs756684836
gnomAD v2: 9-97365632-G-A
gnomAD v4: 9-94603350-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94603350G>A , CM000671.2:g.94603350G>A GRCh38
NC_000009.11:g.97365632G>A , CM000671.1:g.97365632G>A GRCh37
NC_000009.10:g.96405453G>A NCBI36
NG_008174.1:g.41900C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.1208C>T ENSP00000507547.1:n.1208C>T
ENST00000375326.9:c.*31C>T MANE Select ENSP00000364475.5:n.*31C>T
ENST00000648117.1:c.*31C>T ENSP00000498145.1:n.*31C>T
ENST00000375326.8:c.*31C>T ENSP00000364475.4:n.*31C>T
ENST00000415431.5:c.*31C>T ENSP00000408025.1:n.*31C>T
NM_000507.3:c.*31C>T NP_000498.2:n.*31C>T
NM_001127628.1:c.*31C>T NP_001121100.1:n.*31C>T
XM_006717005.2:c.*31C>T XP_006717068.1:n.*31C>T
XM_006717005.4:c.*31C>T XP_006717068.1:n.*31C>T
NM_000507.4:c.*31C>T MANE Select NP_000498.2:n.*31C>T
NM_001127628.2:c.*31C>T NP_001121100.1:n.*31C>T