Canonical Allele Identifier: CA5136118

Gene: FBP1

Linked Data

• ClinVar Variation Id: 1557878
• ClinVar RCV Id: RCV002190510
• dbSNP Id: rs143965326
• ExAC: 9:97367746 T / C
• gnomAD v2: 9-97367746-T-C
• gnomAD v3: 9-94605464-T-C
• gnomAD v4: 9-94605464-T-C
• MyVariant Identifiers: chr9:g.97367746T>C (hg19) ; chr9:g.94605464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94605464T>C , CM000671.2:g.94605464T>C	GRCh38
NC_000009.11:g.97367746T>C , CM000671.1:g.97367746T>C	GRCh37
NC_000009.10:g.96407567T>C	NCBI36
NG_008174.1:g.39786A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682520.1:c.978A>G	ENSP00000507547.1:n.978A>G
ENST00000375326.9:c.818A>G MANE Select	ENSP00000364475.5:p.Asn273Ser
ENST00000648117.1:c.623A>G	ENSP00000498145.1:p.Asn208Ser
ENST00000375326.8:c.818A>G	ENSP00000364475.4:p.Asn273Ser
ENST00000415431.5:c.818A>G	ENSP00000408025.1:p.Asn273Ser
NM_000507.3:c.818A>G	NP_000498.2:p.Asn273Ser
NM_001127628.1:c.818A>G	NP_001121100.1:p.Asn273Ser
XM_006717005.2:c.572A>G	XP_006717068.1:p.Asn191Ser
XM_006717005.4:c.572A>G	XP_006717068.1:p.Asn191Ser
NM_000507.4:c.818A>G MANE Select	NP_000498.2:p.Asn273Ser
NM_001127628.2:c.818A>G	NP_001121100.1:p.Asn273Ser