Canonical Allele Identifier: CA5136199

Gene: FBP1

Linked Data

• ClinVar Variation Id: 1384771
• ClinVar RCV Id: RCV001902627 ; RCV003481163
• dbSNP Id: rs376631329
• ExAC: 9:97372203 C / T
• gnomAD v2: 9-97372203-C-T
• gnomAD v3: 9-94609921-C-T
• gnomAD v4: 9-94609921-C-T
• MyVariant Identifiers: chr9:g.97372203C>T (hg19) ; chr9:g.94609921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94609921C>T , CM000671.2:g.94609921C>T	GRCh38
NC_000009.11:g.97372203C>T , CM000671.1:g.97372203C>T	GRCh37
NC_000009.10:g.96412024C>T	NCBI36
NG_008174.1:g.35329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.567G>A	ENSP00000507547.1:p.Pro189=
ENST00000375326.9:c.567G>A MANE Select	ENSP00000364475.5:p.Pro189=
ENST00000648117.1:c.372G>A	ENSP00000498145.1:p.Pro124=
ENST00000375326.8:c.567G>A	ENSP00000364475.4:p.Pro189=
ENST00000414122.1:c.315G>A	ENSP00000411619.1:p.Pro105=
ENST00000415431.5:c.567G>A	ENSP00000408025.1:p.Pro189=
NM_000507.3:c.567G>A	NP_000498.2:p.Pro189=
NM_001127628.1:c.567G>A	NP_001121100.1:p.Pro189=
XM_006717005.2:c.321G>A	XP_006717068.1:p.Pro107=
XM_006717005.4:c.321G>A	XP_006717068.1:p.Pro107=
NM_000507.4:c.567G>A MANE Select	NP_000498.2:p.Pro189=
NM_001127628.2:c.567G>A	NP_001121100.1:p.Pro189=