Canonical Allele Identifier: CA374108638
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1252797952
gnomAD v2: 9-97382689-C-T
gnomAD v3: 9-94620407-C-T
gnomAD v4: 9-94620407-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94620407C>T , CM000671.2:g.94620407C>T GRCh38
NC_000009.11:g.97382689C>T , CM000671.1:g.97382689C>T GRCh37
NC_000009.10:g.96422510C>T NCBI36
NG_008174.1:g.24843G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.255G>A ENSP00000507547.1:p.Met85Ile
ENST00000375326.9:c.255G>A MANE Select ENSP00000364475.5:p.Met85Ile
ENST00000648117.1:c.153G>A ENSP00000498145.1:p.Met51Ile
ENST00000375326.8:c.255G>A ENSP00000364475.4:p.Met85Ile
ENST00000414122.1:c.3G>A ENSP00000411619.1:p.Met1Ile
ENST00000415431.5:c.255G>A ENSP00000408025.1:p.Met85Ile
NM_000507.3:c.255G>A NP_000498.2:p.Met85Ile
NM_001127628.1:c.255G>A NP_001121100.1:p.Met85Ile
XM_006717005.2:c.9G>A XP_006717068.1:p.Met3Ile
XM_006717005.4:c.9G>A XP_006717068.1:p.Met3Ile
NM_000507.4:c.255G>A MANE Select NP_000498.2:p.Met85Ile
NM_001127628.2:c.255G>A NP_001121100.1:p.Met85Ile