Canonical Allele Identifier: CA196553536

Gene: FBP1

Linked Data

• ClinVar Variation Id: 2913863
• ClinVar RCV Id: RCV003601895
• dbSNP Id: rs923972304
• gnomAD v2: 9-97369133-G-A
• gnomAD v3: 9-94606851-G-A
• gnomAD v4: 9-94606851-G-A
• MyVariant Identifiers: chr9:g.97369133G>A (hg19) ; chr9:g.94606851G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94606851G>A , CM000671.2:g.94606851G>A	GRCh38
NC_000009.11:g.97369133G>A , CM000671.1:g.97369133G>A	GRCh37
NC_000009.10:g.96408954G>A	NCBI36
NG_008174.1:g.38399C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682520.1:c.829C>T	ENSP00000507547.1:n.829C>T
ENST00000375326.9:c.669C>T MANE Select	ENSP00000364475.5:p.Ala223=
ENST00000648117.1:c.474C>T	ENSP00000498145.1:p.Ala158=
ENST00000375326.8:c.669C>T	ENSP00000364475.4:p.Ala223=
ENST00000414122.1:c.417C>T	ENSP00000411619.1:p.Ala139=
ENST00000415431.5:c.669C>T	ENSP00000408025.1:p.Ala223=
NM_000507.3:c.669C>T	NP_000498.2:p.Ala223=
NM_001127628.1:c.669C>T	NP_001121100.1:p.Ala223=
XM_006717005.2:c.423C>T	XP_006717068.1:p.Ala141=
XM_006717005.4:c.423C>T	XP_006717068.1:p.Ala141=
NM_000507.4:c.669C>T MANE Select	NP_000498.2:p.Ala223=
NM_001127628.2:c.669C>T	NP_001121100.1:p.Ala223=