Canonical Allele Identifier: CA114586
Community Standard Title: NM_000507.4(FBP1):c.530C>A (p.Ala177Asp)
Gene: FBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94609958G>T , CM000671.2:g.94609958G>T GRCh38
NC_000009.11:g.97372240G>T , CM000671.1:g.97372240G>T GRCh37
NC_000009.10:g.96412061G>T NCBI36
NG_008174.1:g.35292C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000507.4:c.530C>A MANE Select NP_000498.2:p.Ala177Asp
ENST00000375326.9:c.530C>A MANE Select ENSP00000364475.5:p.Ala177Asp
NM_000507.3:c.530C>A NP_000498.2:p.Ala177Asp
NM_001127628.1:c.530C>A NP_001121100.1:p.Ala177Asp
NM_001127628.2:c.530C>A NP_001121100.1:p.Ala177Asp
ENST00000375326.8:c.530C>A ENSP00000364475.4:p.Ala177Asp
ENST00000414122.1:c.278C>A ENSP00000411619.1:p.Ala93Asp
ENST00000415431.5:c.530C>A ENSP00000408025.1:p.Ala177Asp
ENST00000648117.1:c.335C>A ENSP00000498145.1:p.Ala112Asp
ENST00000682520.1:c.530C>A ENSP00000507547.1:p.Ala177Asp
XM_006717005.2:c.284C>A XP_006717068.1:p.Ala95Asp
XM_006717005.4:c.284C>A XP_006717068.1:p.Ala95Asp