Canonical Allele Identifier: CA374107601
Gene: FBP1 HGNC NCBI

Linked Data

gnomAD v4: 9-94609923-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94609923G>A , CM000671.2:g.94609923G>A GRCh38
NC_000009.11:g.97372205G>A , CM000671.1:g.97372205G>A GRCh37
NC_000009.10:g.96412026G>A NCBI36
NG_008174.1:g.35327C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.565C>T ENSP00000507547.1:p.Pro189Ser
ENST00000375326.9:c.565C>T MANE Select ENSP00000364475.5:p.Pro189Ser
ENST00000648117.1:c.370C>T ENSP00000498145.1:p.Pro124Ser
ENST00000375326.8:c.565C>T ENSP00000364475.4:p.Pro189Ser
ENST00000414122.1:c.313C>T ENSP00000411619.1:p.Pro105Ser
ENST00000415431.5:c.565C>T ENSP00000408025.1:p.Pro189Ser
NM_000507.3:c.565C>T NP_000498.2:p.Pro189Ser
NM_001127628.1:c.565C>T NP_001121100.1:p.Pro189Ser
XM_006717005.2:c.319C>T XP_006717068.1:p.Pro107Ser
XM_006717005.4:c.319C>T XP_006717068.1:p.Pro107Ser
NM_000507.4:c.565C>T MANE Select NP_000498.2:p.Pro189Ser
NM_001127628.2:c.565C>T NP_001121100.1:p.Pro189Ser