Canonical Allele Identifier: CA5136356
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs747358501
gnomAD v2: 9-97401553-G-C
gnomAD v3: 9-94639271-G-C
gnomAD v4: 9-94639271-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639271G>C , CM000671.2:g.94639271G>C GRCh38
NC_000009.11:g.97401553G>C , CM000671.1:g.97401553G>C GRCh37
NC_000009.10:g.96441374G>C NCBI36
NG_008174.1:g.5979C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.40C>G ENSP00000507547.1:p.Leu14Val
ENST00000375326.9:c.40C>G MANE Select ENSP00000364475.5:p.Leu14Val
ENST00000375326.8:c.40C>G ENSP00000364475.4:p.Leu14Val
ENST00000414122.1:c.-83+773C>G ENSP00000411619.1:n.-83+773C>G
ENST00000415431.5:c.40C>G ENSP00000408025.1:p.Leu14Val
NM_000507.3:c.40C>G NP_000498.2:p.Leu14Val
NM_001127628.1:c.40C>G NP_001121100.1:p.Leu14Val
XM_006717005.2:c.-77+773C>G XP_006717068.1:n.-77+773C>G
XM_006717005.4:c.-77+773C>G XP_006717068.1:n.-77+773C>G
NM_000507.4:c.40C>G MANE Select NP_000498.2:p.Leu14Val
NM_001127628.2:c.40C>G NP_001121100.1:p.Leu14Val