Canonical Allele Identifier: CA122423
Gene: TPI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12468
dbSNP Id: rs121964845
gnomAD v2: 12-6978338-G-C
gnomAD v3: 12-6869174-G-C
gnomAD v4: 12-6869174-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6869174G>C , CM000674.2:g.6869174G>C GRCh38
NC_000012.11:g.6978338G>C , CM000674.1:g.6978338G>C GRCh37
NC_000012.10:g.6848599G>C NCBI36
NG_011948.1:g.6755G>C
NG_013308.1:g.9184C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396705.10:c.315G>C MANE Select ENSP00000379933.4:p.Glu105Asp
ENST00000229270.8:c.426G>C ENSP00000229270.4:p.Glu142Asp
ENST00000396705.9:c.315G>C ENSP00000379933.4:p.Glu105Asp
ENST00000462761.5:c.69G>C ENSP00000475184.1:p.Glu23Asp
ENST00000488464.6:c.69G>C ENSP00000475620.1:p.Glu23Asp
ENST00000493987.5:c.69G>C ENSP00000475364.1:p.Glu23Asp
ENST00000495834.1:c.69G>C ENSP00000475829.1:p.Glu23Asp
ENST00000535434.5:c.69G>C ENSP00000443599.1:p.Glu23Asp
ENST00000613953.4:c.426G>C ENSP00000484435.1:p.Glu142Asp
NM_000365.5:c.315G>C NP_000356.1:p.Glu105Asp
NM_001159287.1:c.426G>C NP_001152759.1:p.Glu142Asp
NM_001258026.1:c.69G>C NP_001244955.1:p.Glu23Asp
XR_002957378.1:n.1048G>C
NM_000365.6:c.315G>C MANE Select NP_000356.1:p.Glu105Asp
NM_001258026.2:c.69G>C NP_001244955.1:p.Glu23Asp