Canonical Allele Identifier: CA5136140

Gene: FBP1

Linked Data

• ClinVar Variation Id: 913515
• ClinVar RCV Id: RCV001167161
• dbSNP Id: rs757338386
• ExAC: 9:97367843 A / G
• gnomAD v2: 9-97367843-A-G
• gnomAD v3: 9-94605561-A-G
• gnomAD v4: 9-94605561-A-G
• MyVariant Identifiers: chr9:g.97367843A>G (hg19) ; chr9:g.94605561A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94605561A>G , CM000671.2:g.94605561A>G	GRCh38
NC_000009.11:g.97367843A>G , CM000671.1:g.97367843A>G	GRCh37
NC_000009.10:g.96407664A>G	NCBI36
NG_008174.1:g.39689T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682520.1:c.881T>C	ENSP00000507547.1:n.881T>C
ENST00000375326.9:c.721T>C MANE Select	ENSP00000364475.5:p.Tyr241His
ENST00000648117.1:c.526T>C	ENSP00000498145.1:p.Tyr176His
ENST00000375326.8:c.721T>C	ENSP00000364475.4:p.Tyr241His
ENST00000415431.5:c.721T>C	ENSP00000408025.1:p.Tyr241His
NM_000507.3:c.721T>C	NP_000498.2:p.Tyr241His
NM_001127628.1:c.721T>C	NP_001121100.1:p.Tyr241His
XM_006717005.2:c.475T>C	XP_006717068.1:p.Tyr159His
XM_006717005.4:c.475T>C	XP_006717068.1:p.Tyr159His
NM_000507.4:c.721T>C MANE Select	NP_000498.2:p.Tyr241His
NM_001127628.2:c.721T>C	NP_001121100.1:p.Tyr241His