Canonical Allele Identifier: CA374335249

Gene: FBP1

Linked Data

• gnomAD v4: 9-94639265-G-A
• MyVariant Identifiers: chr9:g.97401547G>A (hg19) ; chr9:g.94639265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639265G>A , CM000671.2:g.94639265G>A	GRCh38
NC_000009.11:g.97401547G>A , CM000671.1:g.97401547G>A	GRCh37
NC_000009.10:g.96441368G>A	NCBI36
NG_008174.1:g.5985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.46C>T	ENSP00000507547.1:p.Arg16Cys
ENST00000375326.9:c.46C>T MANE Select	ENSP00000364475.5:p.Arg16Cys
ENST00000375326.8:c.46C>T	ENSP00000364475.4:p.Arg16Cys
ENST00000414122.1:c.-83+779C>T	ENSP00000411619.1:n.-83+779C>T
ENST00000415431.5:c.46C>T	ENSP00000408025.1:p.Arg16Cys
NM_000507.3:c.46C>T	NP_000498.2:p.Arg16Cys
NM_001127628.1:c.46C>T	NP_001121100.1:p.Arg16Cys
XM_006717005.2:c.-77+779C>T	XP_006717068.1:n.-77+779C>T
XM_006717005.4:c.-77+779C>T	XP_006717068.1:n.-77+779C>T
NM_000507.4:c.46C>T MANE Select	NP_000498.2:p.Arg16Cys
NM_001127628.2:c.46C>T	NP_001121100.1:p.Arg16Cys