Canonical Allele Identifier: CA2690769912

Gene: FBP1

Linked Data

• gnomAD v4: 9-94639125-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639125C>A , CM000671.2:g.94639125C>A	GRCh38
NC_000009.11:g.97401407C>A , CM000671.1:g.97401407C>A	GRCh37
NC_000009.10:g.96441228C>A	NCBI36
NG_008174.1:g.6125G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.170+16G>T	ENSP00000507547.1:n.170+16G>T
ENST00000375326.9:c.170+16G>T MANE Select	ENSP00000364475.5:n.170+16G>T
ENST00000375326.8:c.170+16G>T	ENSP00000364475.4:n.170+16G>T
ENST00000414122.1:c.-83+919G>T	ENSP00000411619.1:n.-83+919G>T
ENST00000415431.5:c.170+16G>T	ENSP00000408025.1:n.170+16G>T
NM_000507.3:c.170+16G>T	NP_000498.2:n.170+16G>T
NM_001127628.1:c.170+16G>T	NP_001121100.1:n.170+16G>T
XM_006717005.2:c.-77+919G>T	XP_006717068.1:n.-77+919G>T
XM_006717005.4:c.-77+919G>T	XP_006717068.1:n.-77+919G>T
NM_000507.4:c.170+16G>T MANE Select	NP_000498.2:n.170+16G>T
NM_001127628.2:c.170+16G>T	NP_001121100.1:n.170+16G>T