Canonical Allele Identifier: CA321578

Gene: FBP1

Linked Data

• ClinVar Variation Id: 214358
• ClinVar RCV Id: RCV001167738
• dbSNP Id: rs199531187
• ExAC: 9:97372293 G / C
• gnomAD v2: 9-97372293-G-C
• gnomAD v3: 9-94610011-G-C
• gnomAD v4: 9-94610011-G-C
• COSMIC: COSM2732916
• MyVariant Identifiers: chr9:g.97372293G>C (hg19) ; chr9:g.94610011G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94610011G>C , CM000671.2:g.94610011G>C	GRCh38
NC_000009.11:g.97372293G>C , CM000671.1:g.97372293G>C	GRCh37
NC_000009.10:g.96412114G>C	NCBI36
NG_008174.1:g.35239C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682520.1:c.477C>G	ENSP00000507547.1:p.Asn159Lys
ENST00000375326.9:c.477C>G MANE Select	ENSP00000364475.5:p.Asn159Lys
ENST00000648117.1:c.282C>G	ENSP00000498145.1:p.Asn94Lys
ENST00000375326.8:c.477C>G	ENSP00000364475.4:p.Asn159Lys
ENST00000414122.1:c.225C>G	ENSP00000411619.1:p.Asn75Lys
ENST00000415431.5:c.477C>G	ENSP00000408025.1:p.Asn159Lys
NM_000507.3:c.477C>G	NP_000498.2:p.Asn159Lys
NM_001127628.1:c.477C>G	NP_001121100.1:p.Asn159Lys
XM_006717005.2:c.231C>G	XP_006717068.1:p.Asn77Lys
XM_006717005.4:c.231C>G	XP_006717068.1:p.Asn77Lys
NM_000507.4:c.477C>G MANE Select	NP_000498.2:p.Asn159Lys
NM_001127628.2:c.477C>G	NP_001121100.1:p.Asn159Lys