Canonical Allele Identifier: CA196564432
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs911681682
gnomAD v3: 9-94620409-T-A
gnomAD v4: 9-94620409-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94620409T>A , CM000671.2:g.94620409T>A GRCh38
NC_000009.11:g.97382691T>A , CM000671.1:g.97382691T>A GRCh37
NC_000009.10:g.96422512T>A NCBI36
NG_008174.1:g.24841A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.253A>T ENSP00000507547.1:p.Met85Leu
ENST00000375326.9:c.253A>T MANE Select ENSP00000364475.5:p.Met85Leu
ENST00000648117.1:c.151A>T ENSP00000498145.1:p.Met51Leu
ENST00000375326.8:c.253A>T ENSP00000364475.4:p.Met85Leu
ENST00000414122.1:c.1A>T ENSP00000411619.1:p.Met1Leu
ENST00000415431.5:c.253A>T ENSP00000408025.1:p.Met85Leu
NM_000507.3:c.253A>T NP_000498.2:p.Met85Leu
NM_001127628.1:c.253A>T NP_001121100.1:p.Met85Leu
XM_006717005.2:c.7A>T XP_006717068.1:p.Met3Leu
XM_006717005.4:c.7A>T XP_006717068.1:p.Met3Leu
NM_000507.4:c.253A>T MANE Select NP_000498.2:p.Met85Leu
NM_001127628.2:c.253A>T NP_001121100.1:p.Met85Leu