Canonical Allele Identifier: CA374108634
Gene: FBP1 HGNC NCBI

Linked Data

gnomAD v3: 9-94620406-A-C
gnomAD v4: 9-94620406-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94620406A>C , CM000671.2:g.94620406A>C GRCh38
NC_000009.11:g.97382688A>C , CM000671.1:g.97382688A>C GRCh37
NC_000009.10:g.96422509A>C NCBI36
NG_008174.1:g.24844T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.256T>G ENSP00000507547.1:p.Leu86Val
ENST00000375326.9:c.256T>G MANE Select ENSP00000364475.5:p.Leu86Val
ENST00000648117.1:c.154T>G ENSP00000498145.1:p.Leu52Val
ENST00000375326.8:c.256T>G ENSP00000364475.4:p.Leu86Val
ENST00000414122.1:c.4T>G ENSP00000411619.1:p.Leu2Val
ENST00000415431.5:c.256T>G ENSP00000408025.1:p.Leu86Val
NM_000507.3:c.256T>G NP_000498.2:p.Leu86Val
NM_001127628.1:c.256T>G NP_001121100.1:p.Leu86Val
XM_006717005.2:c.10T>G XP_006717068.1:p.Leu4Val
XM_006717005.4:c.10T>G XP_006717068.1:p.Leu4Val
NM_000507.4:c.256T>G MANE Select NP_000498.2:p.Leu86Val
NM_001127628.2:c.256T>G NP_001121100.1:p.Leu86Val