Canonical Allele Identifier: CA5136138
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs764292673
gnomAD v2: 9-97367841-A-T
gnomAD v4: 9-94605559-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94605559A>T , CM000671.2:g.94605559A>T GRCh38
NC_000009.11:g.97367841A>T , CM000671.1:g.97367841A>T GRCh37
NC_000009.10:g.96407662A>T NCBI36
NG_008174.1:g.39691T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.883T>A ENSP00000507547.1:n.883T>A
ENST00000375326.9:c.723T>A MANE Select ENSP00000364475.5:p.Tyr241Ter
ENST00000648117.1:c.528T>A ENSP00000498145.1:p.Tyr176Ter
ENST00000375326.8:c.723T>A ENSP00000364475.4:p.Tyr241Ter
ENST00000415431.5:c.723T>A ENSP00000408025.1:p.Tyr241Ter
NM_000507.3:c.723T>A NP_000498.2:p.Tyr241Ter
NM_001127628.1:c.723T>A NP_001121100.1:p.Tyr241Ter
XM_006717005.2:c.477T>A XP_006717068.1:p.Tyr159Ter
XM_006717005.4:c.477T>A XP_006717068.1:p.Tyr159Ter
NM_000507.4:c.723T>A MANE Select NP_000498.2:p.Tyr241Ter
NM_001127628.2:c.723T>A NP_001121100.1:p.Tyr241Ter